CHEK2 c.470T>G ;(p.I157S)

Variant ID: 22-29121087-A-C

NM_007194.3(CHEK2):c.470T>G;(p.I157S)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics
Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E
Publication Date: 2022-10-17

Variant appearance in text: CHEK2: 470T>G; Ile157Ser; rs17879961
PubMed Link: 36253817
Variant Present in the following documents:
  • 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: rs17879961
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18

Variant appearance in text: CHEK2: 470T>G; Ile157Ser
PubMed Link: 35585550
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1052.pdf
View BVdb publication page



Genetic associations of protein-coding variants in human disease.

Nature
Sun, Benjamin B BB; Kurki, Mitja I MI; Foley, Christopher N CN; Mechakra, Asma A; Chen, Chia-Yen CY; Marshall, Eric E; Wilk, Jemma B JB; , ; Chahine, Mohamed M; Chevalier, Philippe P; Christé, Georges G; , ; Palotie, Aarno A; Daly, Mark J MJ; Runz, Heiko H
Publication Date: 2022-03

Variant appearance in text: rs17879961
PubMed Link: 35197637
Variant Present in the following documents:
  • Main text
  • 41586_2022_Article_4394.pdf
View BVdb publication page



Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research
Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,
Publication Date: 2022-01-31

Variant appearance in text: rs17879961
PubMed Link: 35101137
Variant Present in the following documents:
  • 40001_2022_638_MOESM1_ESM.pdf
View BVdb publication page



Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research
Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,
Publication Date: 2022-01-31

Variant appearance in text: rs17879961
PubMed Link: 35101137
Variant Present in the following documents:
  • 40001_2022_638_MOESM1_ESM.pdf
View BVdb publication page



Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast Cancer Research : Bcr
Ahearn, Thomas U TU; Zhang, Haoyu H; Michailidou, Kyriaki K; Milne, Roger L RL; Bolla, Manjeet K MK; Dennis, Joe J; Dunning, Alison M AM; Lush, Michael M; Wang, Qin Q; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Aronson, Kristan J KJ; Auer, Paul L PL; Augustinsson, Annelie A; Baten, Adinda A; Becher, Heiko H; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Blomqvist, Carl C; Bojesen, Stig E SE; Bonanni, Bernardo B; Børresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Brenner, Hermann H; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; Clarke, Christine L CL; , ; Collée, J Margriet JM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Dörk, Thilo T; Dwek, Miriam M; Eccles, Diana M DM; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Floris, Giuseppe G; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; García-Sáenz, José A JA; Gaudet, Mia M MM; Giles, Graham G GG; Goldberg, Mark S MS; González-Neira, Anna A; Alnæs, Grethe I Grenaker GIG; Grip, Mervi M; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Heemskerk-Gerritsen, Bernadette A M BAM; Holleczek, Bernd B; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hoover, Robert N RN; Hopper, John L JL; Howell, Anthony A; , ; , ; Jakimovska, Milena M; Jakubowska, Anna A; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Kauppila, Saila S; Keeman, Renske R; Khusnutdinova, Elza E; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Koutros, Stella S; Kristensen, Vessela N VN; Krüger, Ute U; Kubelka-Sabit, Katerina K; Kurian, Allison W AW; Kyriacou, Kyriacos K; Lambrechts, Diether D; Lee, Derrick G DG; Lindblom, Annika A; Linet, Martha M; Lissowska, Jolanta J; Llaneza, Ana A; Lo, Wing-Yee WY; MacInnis, Robert J RJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Martinez, Maria Elena ME; McLean, Catriona C; Meindl, Alfons A; Menon, Usha U; Nevanlinna, Heli H; Newman, William G WG; Nodora, Jesse J; Offit, Kenneth K; Olsson, Håkan H; Orr, Nick N; Park-Simon, Tjoung-Won TW; Patel, Alpa V AV; Peto, Julian J; Pita, Guillermo G; Plaseska-Karanfilska, Dijana D; Prentice, Ross R; Punie, Kevin K; Pylkäs, Katri K; Radice, Paolo P; Rennert, Gad G; Romero, Atocha A; Rüdiger, Thomas T; Saloustros, Emmanouil E; Sampson, Sarah S; Sandler, Dale P DP; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Schöttker, Ben B; Sherman, Mark E ME; Shu, Xiao-Ou XO; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Taylor, Jack A JA; Teras, Lauren R LR; Terry, Mary Beth MB; Torres, Diana D; Troester, Melissa A MA; Vachon, Celine M CM; van Deurzen, Carolien H M CHM; van Veen, Elke M EM; Wagner, Philippe P; Weinberg, Clarice R CR; Wendt, Camilla C; Wesseling, Jelle J; Winqvist, Robert R; Wolk, Alicja A; Yang, Xiaohong R XR; Zheng, Wei W; Couch, Fergus J FJ; Simard, Jacques J; Kraft, Peter P; Easton, Douglas F DF; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; García-Closas, Montserrat M; Chatterjee, Nilanjan N
Publication Date: 2022-01-04

Variant appearance in text: rs17879961
PubMed Link: 34983606
Variant Present in the following documents:
  • Main text
  • 13058_2021_Article_1484.pdf
View BVdb publication page



Common variants in breast cancer risk loci predispose to distinct tumor subtypes.

Breast Cancer Research : Bcr
Ahearn, Thomas U TU; Zhang, Haoyu H; Michailidou, Kyriaki K; Milne, Roger L RL; Bolla, Manjeet K MK; Dennis, Joe J; Dunning, Alison M AM; Lush, Michael M; Wang, Qin Q; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Aronson, Kristan J KJ; Auer, Paul L PL; Augustinsson, Annelie A; Baten, Adinda A; Becher, Heiko H; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Blomqvist, Carl C; Bojesen, Stig E SE; Bonanni, Bernardo B; Børresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Brenner, Hermann H; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Canzian, Federico F; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; Clarke, Christine L CL; , ; Collée, J Margriet JM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Dörk, Thilo T; Dwek, Miriam M; Eccles, Diana M DM; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Floris, Giuseppe G; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; García-Sáenz, José A JA; Gaudet, Mia M MM; Giles, Graham G GG; Goldberg, Mark S MS; González-Neira, Anna A; Alnæs, Grethe I Grenaker GIG; Grip, Mervi M; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Heemskerk-Gerritsen, Bernadette A M BAM; Holleczek, Bernd B; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hoover, Robert N RN; Hopper, John L JL; Howell, Anthony A; , ; , ; Jakimovska, Milena M; Jakubowska, Anna A; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Kauppila, Saila S; Keeman, Renske R; Khusnutdinova, Elza E; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Koutros, Stella S; Kristensen, Vessela N VN; Krüger, Ute U; Kubelka-Sabit, Katerina K; Kurian, Allison W AW; Kyriacou, Kyriacos K; Lambrechts, Diether D; Lee, Derrick G DG; Lindblom, Annika A; Linet, Martha M; Lissowska, Jolanta J; Llaneza, Ana A; Lo, Wing-Yee WY; MacInnis, Robert J RJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Martinez, Maria Elena ME; McLean, Catriona C; Meindl, Alfons A; Menon, Usha U; Nevanlinna, Heli H; Newman, William G WG; Nodora, Jesse J; Offit, Kenneth K; Olsson, Håkan H; Orr, Nick N; Park-Simon, Tjoung-Won TW; Patel, Alpa V AV; Peto, Julian J; Pita, Guillermo G; Plaseska-Karanfilska, Dijana D; Prentice, Ross R; Punie, Kevin K; Pylkäs, Katri K; Radice, Paolo P; Rennert, Gad G; Romero, Atocha A; Rüdiger, Thomas T; Saloustros, Emmanouil E; Sampson, Sarah S; Sandler, Dale P DP; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Schöttker, Ben B; Sherman, Mark E ME; Shu, Xiao-Ou XO; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Taylor, Jack A JA; Teras, Lauren R LR; Terry, Mary Beth MB; Torres, Diana D; Troester, Melissa A MA; Vachon, Celine M CM; van Deurzen, Carolien H M CHM; van Veen, Elke M EM; Wagner, Philippe P; Weinberg, Clarice R CR; Wendt, Camilla C; Wesseling, Jelle J; Winqvist, Robert R; Wolk, Alicja A; Yang, Xiaohong R XR; Zheng, Wei W; Couch, Fergus J FJ; Simard, Jacques J; Kraft, Peter P; Easton, Douglas F DF; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; García-Closas, Montserrat M; Chatterjee, Nilanjan N
Publication Date: 2022-01-04

Variant appearance in text: rs17879961
PubMed Link: 34983606
Variant Present in the following documents:
  • Main text
  • 13058_2021_Article_1484.pdf
View BVdb publication page



Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Cancer Research
Boonen, Rick A C M RACM; Wiegant, Wouter W WW; Celosse, Nandi N; Vroling, Bas B; Heijl, Stephan S; Kote-Jarai, Zsofia Z; Mijuskovic, Martina M; Cristea, Simona S; Solleveld-Westerink, Nienke N; van Wezel, Tom T; Beerenwinkel, Niko N; Eeles, Rosalind R; Devilee, Peter P; Vreeswijk, Maaike P G MPG; Marra, Giancarlo G; van Attikum, Haico H
Publication Date: 2022-02-15

Variant appearance in text: CHEK2: 470T>G; I157S
PubMed Link: 34903604
Variant Present in the following documents:
  • Main text
  • 615.pdf
  • can-21-1845_supplementary_table_s3_supps3.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: CHEK2: 470T>G; Ile157Ser
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).

Cancers
Diquigiovanni, Chiara C; Bonora, Elena E
Publication Date: 2021-04-30

Variant appearance in text: rs17879961
PubMed Link: 33946592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: rs17879961
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: rs17879961
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Variable expression quantitative trait loci analysis of breast cancer risk variants.

Scientific Reports
Wiggins, George A R GAR; Black, Michael A MA; Dunbier, Anita A; Merriman, Tony R TR; Pearson, John F JF; Walker, Logan C LC
Publication Date: 2021-03-30

Variant appearance in text: rs17879961
PubMed Link: 33785833
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_86690.pdf
View BVdb publication page



The association of three DNA repair genes polymorphisms on the frequency of chromosomal alterations detected by fluorescence in situ hybridization.

International Archives Of Occupational And Environmental Health
Santiago, Fábio F; Silvestre, Rafaele Tavares RT; Otero, Ubirani Barros UB; Tabalipa, Marianne Medeiros MM; de Moura Ribeiro-Carvalho, Marilza M; Scherrer, Luciano Rios LR; Al-Rikabi, Ahmed A; Liehr, Thomas T; Alves, Gilda G; Ornellas, Maria Helena MH
Publication Date: 2021-10

Variant appearance in text: rs17879961
PubMed Link: 33778923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Human Genome Variation
Moradian, Mike M MM; Babikyan, Davit T DT; Markarian, Sione S; Petrosyan, Jonny G JG; Avanesian, Nare N; Arutunyan, Tereza T; Sarkisian, Tamara F TF
Publication Date: 2021-02-09

Variant appearance in text: CHEK2: Ile157Ser
PubMed Link: 33558524
Variant Present in the following documents:
  • 41439_2021_140_MOESM3_ESM.pdf
View BVdb publication page



Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs17879961
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
  • pone.0243084.pdf
View BVdb publication page



Monogenic and polygenic inheritance become instruments for clonal selection.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08

Variant appearance in text: rs17879961
PubMed Link: 32581363
Variant Present in the following documents:
  • NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
View BVdb publication page



Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

International Journal Of Cancer
Hilbers, Florentine S FS; van 't Hof, Peter J PJ; Meijers, Caro M CM; Mei, Hailiang H; Michailidou, Kyriaki K; Dennis, Joe J; Hogervorst, Frans B L FBL; Nederlof, Petra M PM; van Asperen, Christi J CJ; Devilee, Peter P
Publication Date: 2020-11-15

Variant appearance in text: rs17879961
PubMed Link: 32383162
Variant Present in the following documents:
  • IJC-147-2708-s001.pdf
View BVdb publication page



Association Analysis of Driver Gene-Related Genetic Variants Identified Novel Lung Cancer Susceptibility Loci with 20,871 Lung Cancer Cases and 15,971 Controls.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wang, Yuzhuo Y; Gorlova, Olga Y OY; Gorlov, Ivan P IP; Zhu, Meng M; Dai, Juncheng J; Albanes, Demetrius D; Lam, Stephen S; Tardon, Adonina A; Chen, Chu C; Goodman, Gary E GE; Bojesen, Stig E SE; Landi, Maria Teresa MT; Johansson, Mattias M; Risch, Angela A; Wichmann, Heunz-Erich HE; Bickeboller, Heike H; Christiani, David C DC; Rennert, Gad G; Arnold, Susanne M SM; Brennan, Paul P; Field, John K JK; Shete, Sanjay S; Le Marchand, Loïc L; Melander, Olle O; Brunnstrom, Hans H; Liu, Geoffrey G; Hung, Rayjean J RJ; Andrew, Angeline S AS; Kiemeney, Lambertus A LA; Zienolddiny, Shanbeh S; Grankvist, Kjell K; Johansson, Mikael M; Caporaso, Neil E NE; Woll, Penella J PJ; Lazarus, Philip P; Schabath, Matthew B MB; Aldrich, Melinda C MC; Stevens, Victoria L VL; Ma, Hongxia H; Jin, Guangfu G; Hu, Zhibin Z; Amos, Christopher I CI; Shen, Hongbing H
Publication Date: 2020-07

Variant appearance in text: rs17879961
PubMed Link: 32277007
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Balkan Journal Of Medical Genetics : Bjmg
Staninova-Stojovska, M M; Matevska-Geskovska, N N; Panovski, M M; Angelovska, B B; Mitrevski, N N; Ristevski, M M; Jovanovic, R R; Dimovski, A J AJ
Publication Date: 2019-12

Variant appearance in text: CHEK2: 470T>G; Ile157Ser
PubMed Link: 31942411
Variant Present in the following documents:
  • Main text
  • bjmg-22-005.pdf
View BVdb publication page



Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01

Variant appearance in text: rs17879961
PubMed Link: 31911677
Variant Present in the following documents:
  • Main text
  • EMS84721.pdf
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A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.

Molecular Genetics & Genomic Medicine
Dawson, Lesa M LM; Smith, Kerri N KN; Werdyani, Salem S; Ndikumana, Robyn R; Penney, Cindy C; Wiede, Louisa L LL; Smith, Kendra L KL; Pater, Justin A JA; MacMillan, Andrée A; Green, Jane J; Drover, Sheila S; Young, Terry-Lynn TL; O'Rielly, Darren D DD
Publication Date: 2020-02

Variant appearance in text: rs17879961
PubMed Link: 31782267
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  • Main text
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Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry.

Ebiomedicine
Yang, Yaohua Y; Shu, Xiang X; Shu, Xiao-Ou XO; Bolla, Manjeet K MK; Kweon, Sun-Seog SS; Cai, Qiuyin Q; Michailidou, Kyriaki K; Wang, Qin Q; Dennis, Joe J; Park, Boyoung B; Matsuo, Keitaro K; Kwong, Ava A; Park, Sue Kyung SK; Wu, Anna H AH; Teo, Soo Hwang SH; Iwasaki, Motoki M; Choi, Ji-Yeob JY; Li, Jingmei J; Hartman, Mikael M; Shen, Chen-Yang CY; Muir, Kenneth K; Lophatananon, Artitaya A; Li, Bingshan B; Wen, Wanqing W; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Aronson, Kristan J KJ; Spinell, John J JJ; Gago-Dominguez, Manuela M; John, Esther M EM; Kurian, Allison W AW; Chang-Claude, Jenny J; Chen, Shou-Tung ST; Dörk, Thilo T; Evans, D Gareth R DGR; Schmidt, Marjanka K MK; Shin, Min-Ho MH; Giles, Graham G GG; Milne, Roger L RL; Simard, Jacques J; Kubo, Michiaki M; Kraft, Peter P; Kang, Daehee D; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J
Publication Date: 2019-10

Variant appearance in text: rs17879961
PubMed Link: 31629678
Variant Present in the following documents:
  • Main text
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A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.

Journal Of The National Cancer Institute
Shieh, Yiwey Y; Fejerman, Laura L; Lott, Paul C PC; Marker, Katie K; Sawyer, Sarah D SD; Hu, Donglei D; Huntsman, Scott S; Torres, Javier J; Echeverry, Magdalena M; Bohórquez, Mabel E ME; Martínez-Chéquer, Juan Carlos JC; Polanco-Echeverry, Guadalupe G; Estrada-Flórez, Ana P AP; , ; Haiman, Christopher A CA; John, Esther M EM; Kushi, Lawrence H LH; Torres-Mejía, Gabriela G; Vidaurre, Tatianna T; Weitzel, Jeffrey N JN; Zambrano, Sandro Casavilca SC; Carvajal-Carmona, Luis G LG; Ziv, Elad E; Neuhausen, Susan L SL
Publication Date: 2020-06-01

Variant appearance in text: rs17879961
PubMed Link: 31553449
Variant Present in the following documents:
  • Main text
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Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

Frontiers In Oncology
Zhunussova, Gulnur G; Afonin, Georgiy G; Abdikerim, Saltanat S; Jumanov, Abai A; Perfilyeva, Anastassiya A; Kaidarova, Dilyara D; Djansugurova, Leyla L
Publication Date: 2019

Variant appearance in text: rs17879961
PubMed Link: 31428572
Variant Present in the following documents:
  • Main text
  • fonc-09-00673.pdf
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Genetically Predicted Levels of DNA Methylation Biomarkers and Breast Cancer Risk: Data From 228 951 Women of European Descent.

Journal Of The National Cancer Institute
Yang, Yaohua Y; Wu, Lang L; Shu, Xiao-Ou XO; Cai, Qiuyin Q; Shu, Xiang X; Li, Bingshan B; Guo, Xingyi X; Ye, Fei F; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Andrulis, Irene L IL; Brenner, Hermann H; Chenevix-Trench, Georgia G; Campa, Daniele D; Castelao, Jose E JE; Gago-Dominguez, Manuela M; Dörk, Thilo T; Hollestelle, Antoinette A; Lophatananon, Artitaya A; Muir, Kenneth K; Neuhausen, Susan L SL; Olsson, Håkan H; Sandler, Dale P DP; Simard, Jacques J; Kraft, Peter P; Pharoah, Paul D P PDP; Easton, Douglas F DF; Zheng, Wei W; Long, Jirong J
Publication Date: 2020-03-01

Variant appearance in text: rs17879961
PubMed Link: 31143935
Variant Present in the following documents:
  • Main text
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Exome-wide survey of the Siberian Caucasian population.

Bmc Medical Genetics
Yurchenko, Andrey A AA; Yudin, Nikolai S NS; Voevoda, Mikhail I MI
Publication Date: 2019-04-09

Variant appearance in text: rs17879961
PubMed Link: 30967127
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_772.pdf
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

American Journal Of Human Genetics
Mavaddat, Nasim N; Michailidou, Kyriaki K; Dennis, Joe J; Lush, Michael M; Fachal, Laura L; Lee, Andrew A; Tyrer, Jonathan P JP; Chen, Ting-Huei TH; Wang, Qin Q; Bolla, Manjeet K MK; Yang, Xin X; Adank, Muriel A MA; Ahearn, Thomas T; Aittomäki, Kristiina K; Allen, Jamie J; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arndt, Volker V; Aronson, Kristan J KJ; Auer, Paul L PL; Auvinen, Päivi P; Barrdahl, Myrto M; Beane Freeman, Laura E LE; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Bernstein, Leslie L; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Børresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Bremer, Michael M; Brenner, Hermann H; Brentnall, Adam A; Brock, Ian W IW; Brooks-Wilson, Angela A; Brucker, Sara Y SY; Brüning, Thomas T; Burwinkel, Barbara B; Campa, Daniele D; Carter, Brian D BD; Castelao, Jose E JE; Chanock, Stephen J SJ; Chlebowski, Rowan R; Christiansen, Hans H; Clarke, Christine L CL; Collée, J Margriet JM; Cordina-Duverger, Emilie E; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dumont, Martine M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Eliassen, A Heather AH; Ellberg, Carolina C; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Fletcher, Olivia O; Flyger, Henrik H; Försti, Asta A; Fritschi, Lin L; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Gilyazova, Irina R IR; Glendon, Gord G; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Grenaker Alnæs, Grethe I GI; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Haeberle, Lothar L; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hamann, Ute U; Hankinson, Susan E SE; Harkness, Elaine F EF; Hart, Steven N SN; He, Wei W; Hein, Alexander A; Heyworth, Jane J; Hillemanns, Peter P; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hoover, Robert N RN; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Humphreys, Keith K; Hunter, David J DJ; Jakimovska, Milena M; Jakubowska, Anna A; Janni, Wolfgang W; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kaczmarek, Katarzyna K; Kataja, Vesa V; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Knight, Julia A JA; Ko, Yon-Dschun YD; Kosma, Veli-Matti VM; Koutros, Stella S; Kristensen, Vessela N VN; Krüger, Ute U; Kühl, Tabea T; Lambrechts, Diether D; Le Marchand, Loic L; Lee, Eunjung E; Lejbkowicz, Flavio F; Lilyquist, Jenna J; Lindblom, Annika A; Lindström, Sara S; Lissowska, Jolanta J; Lo, Wing-Yee WY; Loibl, Sibylle S; Long, Jirong J; Lubiński, Jan J; Lux, Michael P MP; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Maleva Kostovska, Ivana I; Mannermaa, Arto A; Manoukian, Siranoush S; Margolin, Sara S; Martens, John W M JWM; Martinez, Maria Elena ME; Mavroudis, Dimitrios D; McLean, Catriona C; Meindl, Alfons A; Menon, Usha U; Middha, Pooja P; Miller, Nicola N; Moreno, Fernando F; Mulligan, Anna Marie AM; Mulot, Claire C; Muñoz-Garzon, Victor M VM; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Newman, William G WG; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Norman, Aaron A; Offit, Kenneth K; Olson, Janet E JE; Olsson, Håkan H; Orr, Nick N; Pankratz, V Shane VS; Park-Simon, Tjoung-Won TW; Perez, Jose I A JIA; Pérez-Barrios, Clara C; Peterlongo, Paolo P; Peto, Julian J; Pinchev, Mila M; Plaseska-Karanfilska, Dijana D; Polley, Eric C EC; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Purrington, Kristen K; Pylkäs, Katri K; Rack, Brigitte B; Radice, Paolo P; Rau-Murthy, Rohini R; Rennert, Gad G; Rennert, Hedy S HS; Rhenius, Valerie V; Robson, Mark M; Romero, Atocha A; Ruddy, Kathryn J KJ; Ruebner, Matthias M; Saloustros, Emmanouil E; Sandler, Dale P DP; Sawyer, Elinor J EJ; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schumacher, Fredrick F; Schürmann, Peter P; Schwentner, Lukas L; Scott, Christopher C; Scott, Rodney J RJ; Seynaeve, Caroline C; Shah, Mitul M; Sherman, Mark E ME; Shrubsole, Martha J MJ; Shu, Xiao-Ou XO; Slager, Susan S; Smeets, Ann A; Sohn, Christof C; Soucy, Penny P; Southey, Melissa C MC; Spinelli, John J JJ; Stegmaier, Christa C; Stone, Jennifer J; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tapper, William J WJ; Taylor, Jack A JA; Terry, Mary Beth MB; Thöne, Kathrin K; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Truong, Thérèse T; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Untch, Michael M; Vachon, Celine M CM; van Veen, Elke M EM; Vijai, Joseph J; Weinberg, Clarice R CR; Wendt, Camilla C; Whittemore, Alice S AS; Wildiers, Hans H; Willett, Walter W; Winqvist, Robert R; Wolk, Alicja A; Yang, Xiaohong R XR; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Ziogas, Argyrios A; , ; , ; , ; Dunning, Alison M AM; Thompson, Deborah J DJ; Chenevix-Trench, Georgia G; Chang-Claude, Jenny J; Schmidt, Marjanka K MK; Hall, Per P; Milne, Roger L RL; Pharoah, Paul D P PDP; Antoniou, Antonis C AC; Chatterjee, Nilanjan N; Kraft, Peter P; García-Closas, Montserrat M; Simard, Jacques J; Easton, Douglas F DF
Publication Date: 2019-01-03

Variant appearance in text: CHEK2: Ile157Ser
PubMed Link: 30554720
Variant Present in the following documents:
  • mmc1.pdf
  • mmc5.pdf
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Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.

Genes, Chromosomes & Cancer
Bastidas Torres, Armando N AN; Cats, Davy D; Mei, Hailiang H; Szuhai, Karoly K; Willemze, Rein R; Vermeer, Maarten H MH; Tensen, Cornelis P CP
Publication Date: 2018-12

Variant appearance in text: rs17879961
PubMed Link: 30144205
Variant Present in the following documents:
  • GCC-57-653-s002.xlsx, sheet 13
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Genome-wide association study of familial lung cancer.

Carcinogenesis
Byun, Jinyoung J; Schwartz, Ann G AG; Lusk, Christine C; Wenzlaff, Angela S AS; de Andrade, Mariza M; Mandal, Diptasri D; Gaba, Colette C; Yang, Ping P; You, Ming M; Kupert, Elena Y EY; Anderson, Marshall W MW; Han, Younghun Y; Li, Yafang Y; Qian, David D; Stilp, Adrienne A; Laurie, Cathy C; Nelson, Sarah S; Zheng, Wenying W; Hung, Rayjean J RJ; Gaborieau, Valerie V; Mckay, James J; Brennan, Paul P; Caporaso, Neil E NE; Landi, Maria Teresa MT; Wu, Xifeng X; McLaughlin, John R JR; Brhane, Yonathan Y; Bossé, Yohan Y; Pinney, Susan M SM; Bailey-Wilson, Joan E JE; Amos, Christopher I CI
Publication Date: 2018-09-21

Variant appearance in text: rs17879961
PubMed Link: 29924316
Variant Present in the following documents:
  • Main text
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Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.

Nature Communications
Baxter, Joseph S JS; Leavy, Olivia C OC; Dryden, Nicola H NH; Maguire, Sarah S; Johnson, Nichola N; Fedele, Vita V; Simigdala, Nikiana N; Martin, Lesley-Ann LA; Andrews, Simon S; Wingett, Steven W SW; Assiotis, Ioannis I; Fenwick, Kerry K; Chauhan, Ritika R; Rust, Alistair G AG; Orr, Nick N; Dudbridge, Frank F; Haider, Syed S; Fletcher, Olivia O
Publication Date: 2018-03-12

Variant appearance in text: rs17879961
PubMed Link: 29531215
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_3411.pdf
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Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Lilyquist, Jenna J; Ruddy, Kathryn J KJ; Vachon, Celine M CM; Couch, Fergus J FJ
Publication Date: 2018-04

Variant appearance in text: rs17879961
PubMed Link: 29382703
Variant Present in the following documents:
  • Main text
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Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

Nature Genetics
McKay, James D JD; Hung, Rayjean J RJ; Han, Younghun Y; Zong, Xuchen X; Carreras-Torres, Robert R; Christiani, David C DC; Caporaso, Neil E NE; Johansson, Mattias M; Xiao, Xiangjun X; Li, Yafang Y; Byun, Jinyoung J; Dunning, Alison A; Pooley, Karen A KA; Qian, David C DC; Ji, Xuemei X; Liu, Geoffrey G; Timofeeva, Maria N MN; Bojesen, Stig E SE; Wu, Xifeng X; Le Marchand, Loic L; Albanes, Demetrios D; Bickeböller, Heike H; Aldrich, Melinda C MC; Bush, William S WS; Tardon, Adonina A; Rennert, Gad G; Teare, M Dawn MD; Field, John K JK; Kiemeney, Lambertus A LA; Lazarus, Philip P; Haugen, Aage A; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Shen, Hongbing H; Hong, Yun-Chul YC; Yuan, Jian-Min JM; Bertazzi, Pier Alberto PA; Pesatori, Angela C AC; Ye, Yuanqing Y; Diao, Nancy N; Su, Li L; Zhang, Ruyang R; Brhane, Yonathan Y; Leighl, Natasha N; Johansen, Jakob S JS; Mellemgaard, Anders A; Saliba, Walid W; Haiman, Christopher A CA; Wilkens, Lynne R LR; Fernandez-Somoano, Ana A; Fernandez-Tardon, Guillermo G; van der Heijden, Henricus F M HFM; Kim, Jin Hee JH; Dai, Juncheng J; Hu, Zhibin Z; Davies, Michael P A MPA; Marcus, Michael W MW; Brunnström, Hans H; Manjer, Jonas J; Melander, Olle O; Muller, David C DC; Overvad, Kim K; Trichopoulou, Antonia A; Tumino, Rosario R; Doherty, Jennifer A JA; Barnett, Matt P MP; Chen, Chu C; Goodman, Gary E GE; Cox, Angela A; Taylor, Fiona F; Woll, Penella P; Brüske, Irene I; Wichmann, H-Erich HE; Manz, Judith J; Muley, Thomas R TR; Risch, Angela A; Rosenberger, Albert A; Grankvist, Kjell K; Johansson, Mikael M; Shepherd, Frances A FA; Tsao, Ming-Sound MS; Arnold, Susanne M SM; Haura, Eric B EB; Bolca, Ciprian C; Holcatova, Ivana I; Janout, Vladimir V; Kontic, Milica M; Lissowska, Jolanta J; Mukeria, Anush A; Ognjanovic, Simona S; Orlowski, Tadeusz M TM; Scelo, Ghislaine G; Swiatkowska, Beata B; Zaridze, David D; Bakke, Per P; Skaug, Vidar V; Zienolddiny, Shanbeh S; Duell, Eric J EJ; Butler, Lesley M LM; Koh, Woon-Puay WP; Gao, Yu-Tang YT; Houlston, Richard S RS; McLaughlin, John J; Stevens, Victoria L VL; Joubert, Philippe P; Lamontagne, Maxime M; Nickle, David C DC; Obeidat, Ma'en M; Timens, Wim W; Zhu, Bin B; Song, Lei L; Kachuri, Linda L; Artigas, María Soler MS; Tobin, Martin D MD; Wain, Louise V LV; , ; Rafnar, Thorunn T; Thorgeirsson, Thorgeir E TE; Reginsson, Gunnar W GW; Stefansson, Kari K; Hancock, Dana B DB; Bierut, Laura J LJ; Spitz, Margaret R MR; Gaddis, Nathan C NC; Lutz, Sharon M SM; Gu, Fangyi F; Johnson, Eric O EO; Kamal, Ahsan A; Pikielny, Claudio C; Zhu, Dakai D; Lindströem, Sara S; Jiang, Xia X; Tyndale, Rachel F RF; Chenevix-Trench, Georgia G; Beesley, Jonathan J; Bossé, Yohan Y; Chanock, Stephen S; Brennan, Paul P; Landi, Maria Teresa MT; Amos, Christopher I CI
Publication Date: 2017-07

Variant appearance in text: rs17879961
PubMed Link: 28604730
Variant Present in the following documents:
  • Main text
  • nihms875731.pdf
  • NIHMS875731-supplement-1.pdf
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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: rs17879961
PubMed Link: 28569218
Variant Present in the following documents:
  • 13058_2017_854_MOESM2_ESM.xlsx, sheet 5
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A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific Reports
Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ
Publication Date: 2017-05-26

Variant appearance in text: rs17879961
PubMed Link: 28550306
Variant Present in the following documents:
  • 41598_2017_2655_MOESM2_ESM.xls, sheet 1
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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science
Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR
Publication Date: 2017-02

Variant appearance in text: rs17879961
PubMed Link: 28386409
Variant Present in the following documents:
  • rsos160254supp3.xlsx, sheet 1
  • rsos160254supp3.xlsx, sheet 10
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Poor replication validity of biomedical association studies reported by newspapers.

Plos One
Dumas-Mallet, Estelle E; Smith, Andy A; Boraud, Thomas T; Gonon, François F
Publication Date: 2017

Variant appearance in text: rs17879961
PubMed Link: 28222122
Variant Present in the following documents:
  • pone.0172650.s003.xlsx, sheet 8
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Clustering of 770,000 genomes reveals post-colonial population structure of North America.

Nature Communications
Han, Eunjung E; Carbonetto, Peter P; Curtis, Ross E RE; Wang, Yong Y; Granka, Julie M JM; Byrnes, Jake J; Noto, Keith K; Kermany, Amir R AR; Myres, Natalie M NM; Barber, Mathew J MJ; Rand, Kristin A KA; Song, Shiya S; Roman, Theodore T; Battat, Erin E; Elyashiv, Eyal E; Guturu, Harendra H; Hong, Eurie L EL; Chahine, Kenneth G KG; Ball, Catherine A CA
Publication Date: 2017-02-07

Variant appearance in text: rs17879961
PubMed Link: 28169989
Variant Present in the following documents:
  • ncomms14238-s1.pdf
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Association of CHEK2 polymorphisms with the efficacy of platinum-based chemotherapy for advanced non-small-cell lung cancer in Chinese never-smoking women.

Journal Of Thoracic Disease
Xu, Wen W; Liu, Di D; Yang, Yang Y; Ding, Xi X; Sun, Yifeng Y; Zhang, Baohong B; Xu, Jinfu J; Su, Bo B
Publication Date: 2016-09

Variant appearance in text: rs17879961
PubMed Link: 27747004
Variant Present in the following documents:
  • Main text
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Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium.

Breast Cancer Research : Bcr
Muranen, Taru A TA; Blomqvist, Carl C; Dörk, Thilo T; Jakubowska, Anna A; Heikkilä, Päivi P; Fagerholm, Rainer R; Greco, Dario D; Aittomäki, Kristiina K; Bojesen, Stig E SE; Shah, Mitul M; Dunning, Alison M AM; Rhenius, Valerie V; Hall, Per P; Czene, Kamila K; Brand, Judith S JS; Darabi, Hatef H; Chang-Claude, Jenny J; Rudolph, Anja A; Nordestgaard, Børge G BG; Couch, Fergus J FJ; Hart, Steven N SN; Figueroa, Jonine J; García-Closas, Montserrat M; Fasching, Peter A PA; Beckmann, Matthias W MW; Li, Jingmei J; Liu, Jianjun J; Andrulis, Irene L IL; Winqvist, Robert R; Pylkäs, Katri K; Mannermaa, Arto A; Kataja, Vesa V; Lindblom, Annika A; Margolin, Sara S; Lubinski, Jan J; Dubrowinskaja, Natalia N; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Easton, Douglas F DF; Pharoah, Paul D P PD; Schmidt, Marjanka K MK; Nevanlinna, Heli H
Publication Date: 2016-10-03

Variant appearance in text: rs17879961
PubMed Link: 27716369
Variant Present in the following documents:
  • Main text
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Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Familial Cancer
Rohlin, Anna A; Rambech, Eva E; Kvist, Anders A; Törngren, Therese T; Eiengård, Frida F; Lundstam, Ulf U; Zagoras, Theofanis T; Gebre-Medhin, Samuel S; Borg, Åke Å; Björk, Jan J; Nilbert, Mef M; Nordling, Margareta M
Publication Date: 2017-04

Variant appearance in text: rs17879961
PubMed Link: 27696107
Variant Present in the following documents:
  • Main text
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An investigation of the association of genetic susceptibility risk with somatic mutation burden in breast cancer.

British Journal Of Cancer
Zhu, Bin B; Mukherjee, Anwesha A; Machiela, Mitchell J MJ; Song, Lei L; Hua, Xing X; Shi, Jianxin J; Garcia-Closas, Montserrat M; Chanock, Stephen J SJ; Chatterjee, Nilanjan N
Publication Date: 2016-09-06

Variant appearance in text: rs17879961
PubMed Link: 27467053
Variant Present in the following documents:
  • Main text
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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs17879961
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families.

Breast Cancer Research And Treatment
Muranen, Taru A TA; Mavaddat, Nasim N; Khan, Sofia S; Fagerholm, Rainer R; Pelttari, Liisa L; Lee, Andrew A; Aittomäki, Kristiina K; Blomqvist, Carl C; Easton, Douglas F DF; Nevanlinna, Heli H
Publication Date: 2016-08

Variant appearance in text: rs17879961
PubMed Link: 27438779
Variant Present in the following documents:
  • Main text
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Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers.

Journal Of Postgraduate Medicine
Pranavchand, R R; Reddy, B M BM
Publication Date: 2016

Variant appearance in text: rs17879961
PubMed Link: 27424552
Variant Present in the following documents:
  • Main text
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The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study.

Plos One
Dorling, Leila L; Kar, Siddhartha S; Michailidou, Kyriaki K; Hiller, Louise L; Vallier, Anne-Laure AL; Ingle, Susan S; Hardy, Richard R; Bowden, Sarah J SJ; Dunn, Janet A JA; Twelves, Chris C; Poole, Christopher J CJ; Caldas, Carlos C; Earl, Helena M HM; Pharoah, Paul D P PD; Abraham, Jean E JE
Publication Date: 2016

Variant appearance in text: rs17879961
PubMed Link: 27392074
Variant Present in the following documents:
  • Main text
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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One
Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F
Publication Date: 2016

Variant appearance in text: rs17879961
PubMed Link: 27336301
Variant Present in the following documents:
  • pone.0158064.s002.xlsx, sheet 9
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Different dietary patterns and reduction of lung cancer risk: A large case-control study in the U.S.

Scientific Reports
Tu, Huakang H; Heymach, John V JV; Wen, Chi-Pang CP; Ye, Yuanqing Y; Pierzynski, Jeanne A JA; Roth, Jack A JA; Wu, Xifeng X
Publication Date: 2016-05-27

Variant appearance in text: rs17879961
PubMed Link: 27230571
Variant Present in the following documents:
  • Main text
  • srep26760.pdf
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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: rs17879961
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Nature Genetics
Michailidou, Kyriaki K; Beesley, Jonathan J; Lindstrom, Sara S; Canisius, Sander S; Dennis, Joe J; Lush, Michael J MJ; Maranian, Mel J MJ; Bolla, Manjeet K MK; Wang, Qin Q; Shah, Mitul M; Perkins, Barbara J BJ; Czene, Kamila K; Eriksson, Mikael M; Darabi, Hatef H; Brand, Judith S JS; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Flyger, Henrik H; Nielsen, Sune F SF; Rahman, Nazneen N; Turnbull, Clare C; , ; Fletcher, Olivia O; Peto, Julian J; Gibson, Lorna L; dos-Santos-Silva, Isabel I; Chang-Claude, Jenny J; Flesch-Janys, Dieter D; Rudolph, Anja A; Eilber, Ursula U; Behrens, Sabine S; Nevanlinna, Heli H; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Khan, Sofia S; Aaltonen, Kirsimari K; Ahsan, Habibul H; Kibriya, Muhammad G MG; Whittemore, Alice S AS; John, Esther M EM; Malone, Kathleen E KE; Gammon, Marilie D MD; Santella, Regina M RM; Ursin, Giske G; Makalic, Enes E; Schmidt, Daniel F DF; Casey, Graham G; Hunter, David J DJ; Gapstur, Susan M SM; Gaudet, Mia M MM; Diver, W Ryan WR; Haiman, Christopher A CA; Schumacher, Fredrick F; Henderson, Brian E BE; Le Marchand, Loic L; Berg, Christine D CD; Chanock, Stephen J SJ; Figueroa, Jonine J; Hoover, Robert N RN; Lambrechts, Diether D; Neven, Patrick P; Wildiers, Hans H; van Limbergen, Erik E; Schmidt, Marjanka K MK; Broeks, Annegien A; Verhoef, Senno S; Cornelissen, Sten S; Couch, Fergus J FJ; Olson, Janet E JE; Hallberg, Emily E; Vachon, Celine C; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Adank, Muriel A MA; van der Luijt, Rob B RB; Li, Jingmei J; Liu, Jianjun J; Humphreys, Keith K; Kang, Daehee D; Choi, Ji-Yeob JY; Park, Sue K SK; Yoo, Keun-Young KY; Matsuo, Keitaro K; Ito, Hidemi H; Iwata, Hiroji H; Tajima, Kazuo K; Guénel, Pascal P; Truong, Thérèse T; Mulot, Claire C; Sanchez, Marie M; Burwinkel, Barbara B; Marme, Frederik F; Surowy, Harald H; Sohn, Christof C; Wu, Anna H AH; Tseng, Chiu-chen CC; Van Den Berg, David D; Stram, Daniel O DO; González-Neira, Anna A; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Shu, Xiao-Ou XO; Lu, Wei W; Gao, Yu-Tang YT; Cai, Hui H; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Andrulis, Irene L IL; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; , ; , ; Lindblom, Annika A; Margolin, Sara S; Teo, Soo Hwang SH; Yip, Cheng Har CH; Taib, Nur Aishah Mohd NA; Tan, Gie-Hooi GH; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Martens, John W M JW; Collée, J Margriet JM; Blot, William W; Signorello, Lisa B LB; Cai, Qiuyin Q; Hopper, John L JL; Southey, Melissa C MC; Tsimiklis, Helen H; Apicella, Carmel C; Shen, Chen-Yang CY; Hsiung, Chia-Ni CN; Wu, Pei-Ei PE; Hou, Ming-Feng MF; Kristensen, Vessela N VN; Nord, Silje S; Alnaes, Grethe I Grenaker GI; , ; Giles, Graham G GG; Milne, Roger L RL; McLean, Catriona C; Canzian, Federico F; Trichopoulos, Dimitrios D; Peeters, Petra P; Lund, Eiliv E; Sund, Malin M; Khaw, Kay-Tee KT; Gunter, Marc J MJ; Palli, Domenico D; Mortensen, Lotte Maxild LM; Dossus, Laure L; Huerta, Jose-Maria JM; Meindl, Alfons A; Schmutzler, Rita K RK; Sutter, Christian C; Yang, Rongxi R; Muir, Kenneth K; Lophatananon, Artitaya A; Stewart-Brown, Sarah S; Siriwanarangsan, Pornthep P; Hartman, Mikael M; Miao, Hui H; Chia, Kee Seng KS; Chan, Ching Wan CW; Fasching, Peter A PA; Hein, Alexander A; Beckmann, Matthias W MW; Haeberle, Lothar L; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Ashworth, Alan A; Orr, Nick N; Schoemaker, Minouk J MJ; Swerdlow, Anthony J AJ; Brinton, Louise L; Garcia-Closas, Montserrat M; Zheng, Wei W; Halverson, Sandra L SL; Shrubsole, Martha M; Long, Jirong J; Goldberg, Mark S MS; Labrèche, France F; Dumont, Martine M; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Brauch, Hiltrud H; Hamann, Ute U; Brüning, Thomas T; , ; Radice, Paolo P; Peterlongo, Paolo P; Manoukian, Siranoush S; Bernard, Loris L; Bogdanova, Natalia V NV; Dörk, Thilo T; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Van Asperen, Christi J CJ; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Huzarski, Tomasz T; Sangrajrang, Suleeporn S; Gaborieau, Valerie V; Brennan, Paul P; McKay, James J; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Kabisch, Maria M; Torres, Diana D; Neuhausen, Susan L SL; Anton-Culver, Hoda H; Luccarini, Craig C; Baynes, Caroline C; Ahmed, Shahana S; Healey, Catherine S CS; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Simard, Jacques J; Pharoah, Paul P D P PP; Kraft, Peter P; Dunning, Alison M AM; Chenevix-Trench, Georgia G; Hall, Per P; Easton, Douglas F DF
Publication Date: 2015-04

Variant appearance in text: rs17879961
PubMed Link: 25751625
Variant Present in the following documents:
  • NIHMS664248-supplement-1.pdf
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A common variant in the SIAH2 locus is associated with estrogen receptor-positive breast cancer in the Chinese Han population.

Plos One
Zhang, Bo B; Li, Yang Y; Zheng, Xiaodong X; Zuo, Xianbo X; Zhou, Fusheng F; Liang, Bo B; Zhu, Jun J; Li, Pan P; Ding, Yantao Y; Huang, Zhonglian Z; Wang, Benzhong B; Chen, Zhendong Z
Publication Date: 2013

Variant appearance in text: rs17879961
PubMed Link: 24244489
Variant Present in the following documents:
  • Main text
  • pone.0079365.pdf
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Novel Integrative Genomics Approach for Associating GWAS Information with Intrinsic Subtypes of Breast Cancer.

Cancer Informatics
Hicks, Chindo C; Koganti, Tejaswi T; Brown, Alexandra S AS; Monico, Jesus J; Backus, Kandis K; Miele, Lucio L
Publication Date: 2013

Variant appearance in text: rs17879961
PubMed Link: 23761956
Variant Present in the following documents:
  • Main text
  • cin-12-2013-125.pdf
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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs17879961
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
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Bayesian mixture modeling of gene-environment and gene-gene interactions.

Genetic Epidemiology
Wakefield, Jon J; De Vocht, Frank F; Hung, Rayjean J RJ
Publication Date: 2010-01

Variant appearance in text: rs17879961
PubMed Link: 19492346
Variant Present in the following documents:
  • Main text
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