LAMA5 c.1417+93A>G

Variant ID: 20-60921044-T-C

NM_005560.4(LAMA5):c.1417+93A>G

This variant was identified in 91 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4925386
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs4925386
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs4925386
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Arnau-Collell, Coral C; Díez-Villanueva, Anna A; Bellosillo, Beatriz B; Augé, Josep M JM; Muñoz, Jenifer J; Guinó, Elisabet E; Moreira, Leticia L; Serradesanferm, Anna A; Pozo, Àngels À; Torà-Rocamora, Isabel I; Bonjoch, Laia L; Ibañez-Sanz, Gemma G; Obon-Santacana, Mireia M; Moratalla-Navarro, Ferran F; Sanz-Pamplona, Rebeca R; Márquez Márquez, Carmen C; Rueda Miret, Rebeca R; Pérez Berbegal, Rocio R; Piquer Velasco, Gabriel G; Hernández Rodríguez, Cristina C; Grau, Jaume J; Castells, Antoni A; Borràs, Josep M JM; Bessa, Xavier X; Moreno, Victor V; Castellví-Bel, Sergi S
Publication Date: 2022-07-01

Variant appearance in text: rs4925386
PubMed Link: 35511747
Variant Present in the following documents:
  • Main text
  • 1305.pdf
View BVdb publication page



Repurposing non-invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome.

Oncology Letters
Forgacova, Natalia N; Gazdarica, Juraj J; Budis, Jaroslav J; Radvanszky, Jan J; Szemes, Tomas T
Publication Date: 2021-11

Variant appearance in text: rs4925386
PubMed Link: 34594420
Variant Present in the following documents:
  • Main text
  • ol-22-05-13040.pdf
View BVdb publication page



Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank.

Plos One
Gafni, Aviv A; Dite, Gillian S GS; Spaeth Tuff, Erika E; Allman, Richard R; Hopper, John L JL
Publication Date: 2021

Variant appearance in text: rs4925386
PubMed Link: 34525106
Variant Present in the following documents:
  • Main text
  • pone.0251469.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LAMA5: 1417+93A>G; rs4925386
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs4925386
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs.

Genome Biology
Do, Catherine C; Dumont, Emmanuel L P ELP; Salas, Martha M; Castano, Angelica A; Mujahed, Huthayfa H; Maldonado, Leonel L; Singh, Arunjot A; DaSilva-Arnold, Sonia C SC; Bhagat, Govind G; Lehman, Soren S; Christiano, Angela M AM; Madhavan, Subha S; Nagy, Peter L PL; Green, Peter H R PHR; Feinman, Rena R; Trimble, Cornelia C; Illsley, Nicholas P NP; Marder, Karen K; Honig, Lawrence L; Monk, Catherine C; Goy, Andre A; Chow, Kar K; Goldlust, Samuel S; Kaptain, George G; Siegel, David D; Tycko, Benjamin B
Publication Date: 2020-06-29

Variant appearance in text: rs4925386
PubMed Link: 32594908
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Scoping Review of Interactions between Omega-3 Long-Chain Polyunsaturated Fatty Acids and Genetic Variation in Relation to Cancer Risk.

Nutrients
Yurko-Mauro, Karin K; Van Elswyk, Mary M; Teo, Lynn L
Publication Date: 2020-06-02

Variant appearance in text: rs4925386
PubMed Link: 32498320
Variant Present in the following documents:
  • Main text
  • nutrients-12-01647.pdf
View BVdb publication page



Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

Journal Of Medical Genetics
Arnau-Collell, Coral C; Soares de Lima, Yasmin Y; Díaz-Gay, Marcos M; Muñoz, Jenifer J; Carballal, Sabela S; Bonjoch, Laia L; Moreira, Leticia L; Lozano, Juan José JJ; Ocaña, Teresa T; Cuatrecasas, Miriam M; Díaz de Bustamante, Aranzazu A; Castells, Antoni A; Capellà, Gabriel G; Bujanda, Luis L; Cubiella, Joaquin J; Rodríguez-Alcalde, Daniel D; Balaguer, Francesc F; Ruiz-Ponte, Clara C; Valle, Laura L; Moreno, Victor V; Castellvi-Bel, Sergi S
Publication Date: 2020-10

Variant appearance in text: rs4925386
PubMed Link: 32170005
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106374.pdf
View BVdb publication page



Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers
Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C
Publication Date: 2019-07-30

Variant appearance in text: rs4925386
PubMed Link: 31366136
Variant Present in the following documents:
  • cancers-11-01081-s001.pdf
View BVdb publication page



Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Human Genetics
Bien, Stephanie A SA; Su, Yu-Ru YR; Conti, David V DV; Harrison, Tabitha A TA; Qu, Conghui C; Guo, Xingyi X; Lu, Yingchang Y; Albanes, Demetrius D; Auer, Paul L PL; Banbury, Barbara L BL; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Buchanan, Daniel D DD; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Chan, Andrew T AT; Chang-Claude, Jenny J; Chen, Sai S; Connolly, Charles M CM; Easton, Douglas F DF; Feskens, Edith J M EJM; Gallinger, Steven S; Giles, Graham G GG; Gunter, Marc J MJ; Hampe, Jochen J; Huyghe, Jeroen R JR; Hoffmeister, Michael M; Hudson, Thomas J TJ; Jacobs, Eric J EJ; Jenkins, Mark A MA; Kampman, Ellen E; Kang, Hyun Min HM; Kühn, Tilman T; Küry, Sébastien S; Lejbkowicz, Flavio F; Le Marchand, Loic L; Milne, Roger L RL; Li, Li L; Li, Christopher I CI; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; McNeil, Caroline E CE; Melas, Marilena M; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Pharaoh, Paul D P PDP; Potter, John D JD; Qu, Chenxu C; Riboli, Elio E; Rennert, Gad G; Sala, Núria N; Schafmayer, Clemens C; Scacheri, Peter C PC; Schmit, Stephanie L SL; Severi, Gianluca G; Slattery, Martha L ML; Smith, Joshua D JD; Trichopoulou, Antonia A; Tumino, Rosario R; Ulrich, Cornelia M CM; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Casey, Graham G; Nickerson, Deborah A DA; Gruber, Stephen B SB; Hsu, Li L; Zheng, Wei W; Peters, Ulrike U
Publication Date: 2019-04

Variant appearance in text: rs4925386
PubMed Link: 30820706
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs4925386
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Congenital myasthenic syndromes.

Orphanet Journal Of Rare Diseases
Finsterer, Josef J
Publication Date: 2019-02-26

Variant appearance in text: rs4925386
PubMed Link: 30808424
Variant Present in the following documents:
  • 13023_2019_Article_1025.pdf
View BVdb publication page



Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

Gastroenterology
Lu, Yingchang Y; Kweon, Sun-Seog SS; Tanikawa, Chizu C; Jia, Wei-Hua WH; Xiang, Yong-Bing YB; Cai, Qiuyin Q; Zeng, Chenjie C; Schmit, Stephanie L SL; Shin, Aesun A; Matsuo, Keitaro K; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Kim, Jeongseon J; Wen, Wanqing W; Shi, Jiajun J; Guo, Xingyi X; Li, Bingshan B; Wang, Nan N; Zhang, Ben B; Li, Xinxiang X; Shin, Min-Ho MH; Li, Hong-Lan HL; Ren, Zefang Z; Oh, Jae Hwan JH; Oze, Isao I; Ahn, Yoon-Ok YO; Jung, Keum Ji KJ; Conti, David V DV; Schumacher, Fredrick R FR; Rennert, Gad G; Jenkins, Mark A MA; Campbell, Peter T PT; Hoffmeister, Michael M; Casey, Graham G; Gruber, Stephen B SB; Gao, Jing J; Gao, Yu-Tang YT; Pan, Zhi-Zhong ZZ; Kamatani, Yoichiro Y; Zeng, Yi-Xin YX; Shu, Xiao-Ou XO; Long, Jirong J; Matsuda, Koichi K; Zheng, Wei W
Publication Date: 2019-04

Variant appearance in text: rs4925386
PubMed Link: 30529582
Variant Present in the following documents:
  • Main text
View BVdb publication page



The added value of genetic information in colorectal cancer risk prediction models: development and evaluation in the UK Biobank prospective cohort study.

British Journal Of Cancer
Smith, Todd T; Gunter, Marc J MJ; Tzoulaki, Ioanna I; Muller, David C DC
Publication Date: 2018-10

Variant appearance in text: rs4925386
PubMed Link: 30323197
Variant Present in the following documents:
  • 41416_2018_282_MOESM1_ESM.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: LAMA5: 1417+93A>G; rs4925386
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese.

Aging
Zhao, Xin X; Liu, Xiaomin X; Zhang, Aiping A; Chen, Huashuai H; Huo, Qing Q; Li, Weiyang W; Ye, Rui R; Chen, Zhihua Z; Liang, Liping L; Liu, Qiong A QA; Shen, Juan J; Jin, Xin X; Li, Wenwen W; Nygaard, Marianne M; Liu, Xiao X; Hou, Yong Y; Ni, Ting T; Bolund, Lars L; Gottschalk, William W; Tao, Wei W; Gu, Jun J; Tian, Xiao-Li XL; Yang, Huanming H; Wang, Jian J; Xu, Xun X; Lutz, Michael W MW; Min, Junxia J; Zeng, Yi Y; Nie, Chao C
Publication Date: 2018-06-05

Variant appearance in text: rs4925386
PubMed Link: 29883365
Variant Present in the following documents:
  • Main text
  • aging-10-101461.pdf
View BVdb publication page



The role of the cell-matrix interface in aging and its interaction with the renin-angiotensin system in the aged vasculature.

Mechanisms Of Ageing And Development
De Luca, Maria M
Publication Date: 2019-01

Variant appearance in text: rs4925386
PubMed Link: 29626500
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population.

Plos One
Jiao, Xiang X; Liu, Wen W; Mahdessian, Hovsep H; Bryant, Patrick P; Ringdahl, Jenny J; Timofeeva, Maria M; Farrington, Susan M SM; Dunlop, Malcolm M; Lindblom, Annika A
Publication Date: 2018

Variant appearance in text: rs4925386
PubMed Link: 29547645
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development.

Scientific Reports
Williams, Meredith A MA; Biguetti, Claudia C; Romero-Bustillos, Miguel M; Maheshwari, Kanwal K; Dinckan, Nuriye N; Cavalla, Franco F; Liu, Xiaoming X; Silva, Renato R; Akyalcin, Sercan S; Uyguner, Z Oya ZO; Vieira, Alexandre R AR; Amendt, Brad A BA; Fakhouri, Walid D WD; Letra, Ariadne A
Publication Date: 2018-02-14

Variant appearance in text: rs4925386
PubMed Link: 29445242
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_21368.pdf
View BVdb publication page



Genome-Wide Association Studies in Glioma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Kinnersley, Ben B; Houlston, Richard S RS; Bondy, Melissa L ML
Publication Date: 2018-04

Variant appearance in text: rs4925386
PubMed Link: 29382702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

Oncotarget
Hofer, Philipp P; Hagmann, Michael M; Brezina, Stefanie S; Dolejsi, Erich E; Mach, Karl K; Leeb, Gernot G; Baierl, Andreas A; Buch, Stephan S; Sutterlüty-Fall, Hedwig H; Karner-Hanusch, Judith J; Bergmann, Michael M MM; Bachleitner-Hofmann, Thomas T; Stift, Anton A; Gerger, Armin A; Rötzer, Katharina K; Karner, Josef J; Stättner, Stefan S; Waldenberger, Melanie M; Meitinger, Thomas T; Strauch, Konstantin K; Linseisen, Jakob J; Gieger, Christian C; Frommlet, Florian F; Gsur, Andrea A
Publication Date: 2017-11-17

Variant appearance in text: rs4925386
PubMed Link: 29228715
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNP association study in PMS2-associated Lynch syndrome.

Familial Cancer
Ten Broeke, Sanne W SW; Elsayed, Fadwa A FA; Pagan, Lisa L; Olderode-Berends, Maran J W MJW; Garcia, Encarna Gomez EG; Gille, Hans J P HJP; van Hest, Liselot P LP; Letteboer, Tom G W TGW; van der Kolk, Lizet E LE; Mensenkamp, Arjen R AR; van Os, Theo A TA; Spruijt, Liesbeth L; Redeker, Bert J W BJW; Suerink, Manon M; Vos, Yvonne J YJ; Wagner, Anja A; Wijnen, Juul T JT; Steyerberg, E W EW; Tops, Carli M J CMJ; van Wezel, Tom T; Nielsen, Maartje M
Publication Date: 2018-10

Variant appearance in text: rs4925386
PubMed Link: 29147930
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery.

Genes, Chromosomes & Cancer
Hu, Yue Y; Gaedcke, Jochen J; Emons, Georg G; Beissbarth, Tim T; Grade, Marian M; Jo, Peter P; Yeager, Meredith M; Chanock, Stephen J SJ; Wolff, Hendrik H; Camps, Jordi J; Ghadimi, B Michael BM; Ried, Thomas T
Publication Date: 2018-03

Variant appearance in text: rs4925386
PubMed Link: 29119627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Colorectal Cancer Type X.

Current Genomics
Zetner, Diana Bregner DB; Bisgaard, Marie Luise ML
Publication Date: 2017-08

Variant appearance in text: rs4925386
PubMed Link: 29081690
Variant Present in the following documents:
  • Main text
  • CG-18-341.pdf
View BVdb publication page



Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

International Journal Of Cancer
Tanskanen, Tomas T; van den Berg, Linda L; Välimäki, Niko N; Aavikko, Mervi M; Ness-Jensen, Eivind E; Hveem, Kristian K; Wettergren, Yvonne Y; Bexe Lindskog, Elinor E; Tõnisson, Neeme N; Metspalu, Andres A; Silander, Kaisa K; Orlando, Giulia G; Law, Philip J PJ; Tuupanen, Sari S; Gylfe, Alexandra E AE; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Kondelin, Johanna J; Sarin, Antti-Pekka AP; Pukkala, Eero E; Jousilahti, Pekka P; Salomaa, Veikko V; Ripatti, Samuli S; Palotie, Aarno A; Järvinen, Heikki H; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Böhm, Jan J; Mecklin, Jukka-Pekka JP; Al-Tassan, Nada A NA; Palles, Claire C; Martin, Lynn L; Barclay, Ella E; Tenesa, Albert A; Farrington, Susan M SM; Timofeeva, Maria N MN; Meyer, Brian F BF; Wakil, Salma M SM; Campbell, Harry H; Smith, Christopher G CG; Idziaszczyk, Shelley S; Maughan, Tim S TS; Kaplan, Richard R; Kerr, Rachel R; Kerr, David D; Buchanan, Daniel D DD; Win, Aung K AK; Hopper, John J; Jenkins, Mark A MA; Newcomb, Polly A PA; Gallinger, Steve S; Conti, David D; Schumacher, Fredrick R FR; Casey, Graham G; Cheadle, Jeremy P JP; Dunlop, Malcolm G MG; Tomlinson, Ian P IP; Houlston, Richard S RS; Palin, Kimmo K; Aaltonen, Lauri A LA
Publication Date: 2018-02-01

Variant appearance in text: rs4925386
PubMed Link: 28960316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Japanese genome-wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14.

Cancer Science
Takahashi, Yusuke Y; Sugimachi, Keishi K; Yamamoto, Ken K; Niida, Atsushi A; Shimamura, Teppei T; Sato, Tetsuya T; Watanabe, Masahiko M; Tanaka, Junichi J; Kudo, Shinei S; Sugihara, Kenichi K; Hase, Kazuo K; Kusunoki, Masato M; Yamada, Kazutaka K; Shimada, Yasuhiro Y; Moriya, Yoshihiro Y; Suzuki, Yutaka Y; Miyano, Satoru S; Mori, Masaki M; Mimori, Koshi K
Publication Date: 2017-11

Variant appearance in text: rs4925386
PubMed Link: 28869801
Variant Present in the following documents:
  • Main text
  • CAS-108-2239.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4925386
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Evaluation of genetic variants in association with colorectal cancer risk and survival in Asians.

International Journal Of Cancer
Wang, Nan N; Lu, Yingchang Y; Khankari, Nikhil K NK; Long, Jirong J; Li, Hong-Lan HL; Gao, Jing J; Gao, Yu-Tang YT; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO; Zheng, Wei W
Publication Date: 2017-09-15

Variant appearance in text: rs4925386
PubMed Link: 28567967
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico pathway analysis and tissue specific cis-eQTL for colorectal cancer GWAS risk variants.

Bmc Genomics
Loo, Lenora W M LWM; Lemire, Mathieu M; Le Marchand, Loïc L
Publication Date: 2017-05-15

Variant appearance in text: rs4925386
PubMed Link: 28506205
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3750.pdf
View BVdb publication page



Epigenetic and genetic alterations and their influence on gene regulation in chronic lymphocytic leukemia.

Bmc Genomics
Huang, Di D; Ovcharenko, Ivan I
Publication Date: 2017-03-16

Variant appearance in text: rs4925386
PubMed Link: 28302063
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study.

Scientific Reports
Ibáñez-Sanz, Gemma G; Díez-Villanueva, Anna A; Alonso, M Henar MH; Rodríguez-Moranta, Francisco F; Pérez-Gómez, Beatriz B; Bustamante, Mariona M; Martin, Vicente V; Llorca, Javier J; Amiano, Pilar P; Ardanaz, Eva E; Tardón, Adonina A; Jiménez-Moleón, Jose J JJ; Peiró, Rosana R; Alguacil, Juan J; Navarro, Carmen C; Guinó, Elisabet E; Binefa, Gemma G; Fernández-Navarro, Pablo P; Espinosa, Anna A; Dávila-Batista, Verónica V; Molina, Antonio José AJ; Palazuelos, Camilo C; Castaño-Vinyals, Gemma G; Aragonés, Nuria N; Kogevinas, Manolis M; Pollán, Marina M; Moreno, Victor V
Publication Date: 2017-02-24

Variant appearance in text: rs4925386
PubMed Link: 28233817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common risk variants for colorectal cancer: an evaluation of associations with age at cancer onset.

Scientific Reports
Song, Nan N; Shin, Aesun A; Park, Ji Won JW; Kim, Jeongseon J; Oh, Jae Hwan JH
Publication Date: 2017-01-13

Variant appearance in text: rs4925386
PubMed Link: 28084440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics
Zhang, Ge G; Muglia, Louis J LJ; Chakraborty, Ranajit R; Akey, Joshua M JM; Williams, Scott M SM
Publication Date: 2013-12-01

Variant appearance in text: rs4925386
PubMed Link: 27896059
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



ADH1B and CDH1 polymorphisms predict prognosis in male patients with non-metastatic laryngeal cancer.

Oncotarget
Li, Daxu D; Zhang, Ruizhi R; Jin, Tianbo T; He, Na N; Ren, Le L; Zhang, Zhe Z; Zhang, Qingna Q; Xu, Ran R; Tao, Hong H; Zeng, Guang G; Gao, Jing J
Publication Date: 2016-11-08

Variant appearance in text: rs4925386
PubMed Link: 27689323
Variant Present in the following documents:
  • Main text
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A comprehensive meta-analysis of genetic associations between five key SNPs and colorectal cancer risk.

Oncotarget
Hong, Yi Y; Wu, Guoying G; Li, Wei W; Liu, Dahai D; He, Kan K
Publication Date: 2016-11-08

Variant appearance in text: rs4925386
PubMed Link: 27661122
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  • oncotarget-07-73945.pdf
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Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Publication Date: 2016-07

Variant appearance in text: rs4925386
PubMed Link: 27437086
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Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

Plos One
Du, Mengmeng M; Jiao, Shuo S; Bien, Stephanie A SA; Gala, Manish M; Abecasis, Goncalo G; Bezieau, Stephane S; Brenner, Hermann H; Butterbach, Katja K; Caan, Bette J BJ; Carlson, Christopher S CS; Casey, Graham G; Chang-Claude, Jenny J; Conti, David V DV; Curtis, Keith R KR; Duggan, David D; Gallinger, Steven S; Haile, Robert W RW; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Hopper, John L JL; Hudson, Thomas J TJ; Jenkins, Mark A MA; Küry, Sébastien S; Le Marchand, Loic L; Leal, Suzanne M SM; Newcomb, Polly A PA; Nickerson, Deborah A DA; Potter, John D JD; Schoen, Robert E RE; Schumacher, Fredrick R FR; Seminara, Daniela D; Slattery, Martha L ML; Hsu, Li L; Chan, Andrew T AT; White, Emily E; Berndt, Sonja I SI; Peters, Ulrike U
Publication Date: 2016

Variant appearance in text: rs4925386
PubMed Link: 27379672
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The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach.

Scientifica
Saeb, Amr T M AT; Al-Naqeb, Dhekra D
Publication Date: 2016

Variant appearance in text: rs4925386
PubMed Link: 27313952
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Colorectal cancer risk genes are functionally enriched in regulatory pathways.

Scientific Reports
Lu, Xi X; Cao, Mingming M; Han, Su S; Yang, Youlin Y; Zhou, Jin J
Publication Date: 2016-05-05

Variant appearance in text: rs4925386
PubMed Link: 27146020
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  • Main text
  • srep25347.pdf
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Genetic Variants Associated with Colorectal Adenoma Susceptibility.

Plos One
Abulí, Anna A; Castells, Antoni A; Bujanda, Luis L; Lozano, Juan José JJ; Bessa, Xavier X; Hernández, Cristina C; Álvarez-Urturi, Cristina C; Pellisé, Maria M; Esteban-Jurado, Clara C; Hijona, Elizabeth E; Burón, Andrea A; Macià, Francesc F; Grau, Jaume J; Guayta, Rafael R; Castellví-Bel, Sergi S; Andreu, Montserrat M; ,
Publication Date: 2016

Variant appearance in text: rs4925386
PubMed Link: 27078840
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Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

Gastroenterology
Zeng, Chenjie C; Matsuda, Koichi K; Jia, Wei-Hua WH; Chang, Jiang J; Kweon, Sun-Seog SS; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Zhang, Ben B; Cai, Qiuyin Q; Guo, Xingyi X; Long, Jirong J; Wang, Nan N; Courtney, Regina R; Pan, Zhi-Zhong ZZ; Wu, Chen C; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuo, Keitaro K; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Jung, Keum Ji KJ; Ahn, Yoon-Ok YO; Ren, Zefang Z; Li, Hong-Lan HL; Wu, Jie J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Li, Bingshan B; Ji, Bu-Tian BT; , ; Brenner, Hermann H; Schoen, Robert E RE; Küry, Sébastien S; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Hopper, John L JL; Jenkins, Mark A MA; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Tajima, Kazuo K; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Lin, Dongxin D; Zeng, Yi-Xin YX; Zheng, Wei W
Publication Date: 2016-06

Variant appearance in text: rs4925386
PubMed Link: 26965516
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GWASeq: targeted re-sequencing follow up to GWAS.

Bmc Genomics
Salomon, Matthew P MP; Li, Wai Lok Sibon WL; Edlund, Christopher K CK; Morrison, John J; Fortini, Barbara K BK; Win, Aung Ko AK; Conti, David V DV; Thomas, Duncan C DC; Duggan, David D; Buchanan, Daniel D DD; Jenkins, Mark A MA; Hopper, John L JL; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Casey, Graham G; Marjoram, Paul P
Publication Date: 2016-03-03

Variant appearance in text: rs4925386
PubMed Link: 26940994
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The heritability and patterns of DNA methylation in normal human colorectum.

Human Molecular Genetics
Rowlatt, Amy A; Hernández-Suárez, Gustavo G; Sanabria-Salas, María Carolina MC; Serrano-López, Martha M; Rawlik, Konrad K; Hernandez-Illan, Eva E; Alenda, Cristina C; Castillejo, Adela A; Soto, Jose Luis JL; Haley, Chris S CS; Tenesa, Albert A
Publication Date: 2016-06-15

Variant appearance in text: rs4925386
PubMed Link: 26936820
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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

Familial Cancer
Ghorbanoghli, Z Z; Nieuwenhuis, M H MH; Houwing-Duistermaat, J J JJ; Jagmohan-Changur, S S; Hes, F J FJ; Tops, C M CM; Wagner, A A; Aalfs, C M CM; Verhoef, S S; Gómez García, E B EB; Sijmons, R H RH; Menko, F H FH; Letteboer, T G TG; Hoogerbrugge, N N; van Wezel, T T; Vasen, H F A HF; Wijnen, J T JT
Publication Date: 2016-10

Variant appearance in text: rs4925386
PubMed Link: 26880076
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Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Scientific Reports
Cheng, Timothy H T TH; Thompson, Deborah D; Painter, Jodie J; O'Mara, Tracy T; Gorman, Maggie M; Martin, Lynn L; Palles, Claire C; Jones, Angela A; Buchanan, Daniel D DD; Win, Aung Ko AK; Hopper, John J; Jenkins, Mark M; Lindor, Noralane M NM; Newcomb, Polly A PA; Gallinger, Steve S; Conti, David D; Schumacher, Fred F; Casey, Graham G; Giles, Graham G GG; Pharoah, Paul P; Peto, Julian J; Cox, Angela A; Swerdlow, Anthony A; Couch, Fergus F; Cunningham, Julie M JM; Goode, Ellen L EL; Winham, Stacey J SJ; Lambrechts, Diether D; Fasching, Peter P; Burwinkel, Barbara B; Brenner, Hermann H; Brauch, Hiltrud H; Chang-Claude, Jenny J; Salvesen, Helga B HB; Kristensen, Vessela V; Darabi, Hatef H; Li, Jingmei J; Liu, Tao T; Lindblom, Annika A; Hall, Per P; de Polanco, Magdalena Echeverry ME; Sans, Monica M; Carracedo, Angel A; Castellvi-Bel, Sergi S; Rojas-Martinez, Augusto A; Aguiar Jnr, Samuel S; Teixeira, Manuel R MR; Dunning, Alison M AM; Dennis, Joe J; Otton, Geoffrey G; Proietto, Tony T; Holliday, Elizabeth E; Attia, John J; Ashton, Katie K; Scott, Rodney J RJ; McEvoy, Mark M; Dowdy, Sean C SC; Fridley, Brooke L BL; Werner, Henrica M J HM; Trovik, Jone J; Njolstad, Tormund S TS; Tham, Emma E; Mints, Miriam M; Runnebaum, Ingo I; Hillemanns, Peter P; Dörk, Thilo T; Amant, Frederic F; Schrauwen, Stefanie S; Hein, Alexander A; Beckmann, Matthias W MW; Ekici, Arif A; Czene, Kamila K; Meindl, Alfons A; Bolla, Manjeet K MK; Michailidou, Kyriaki K; Tyrer, Jonathan P JP; Wang, Qin Q; Ahmed, Shahana S; Healey, Catherine S CS; Shah, Mitul M; Annibali, Daniela D; Depreeuw, Jeroen J; Al-Tassan, Nada A NA; Harris, Rebecca R; Meyer, Brian F BF; Whiffin, Nicola N; Hosking, Fay J FJ; Kinnersley, Ben B; Farrington, Susan M SM; Timofeeva, Maria M; Tenesa, Albert A; Campbell, Harry H; Haile, Robert W RW; Hodgson, Shirley S; Carvajal-Carmona, Luis L; Cheadle, Jeremy P JP; Easton, Douglas D; Dunlop, Malcolm M; Houlston, Richard R; Spurdle, Amanda A; Tomlinson, Ian I
Publication Date: 2015-12-01

Variant appearance in text: rs4925386
PubMed Link: 26621817
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Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Scientific Reports
Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS
Publication Date: 2015-11-10

Variant appearance in text: rs4925386
PubMed Link: 26553438
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  • Main text
  • srep16286-s1.pdf
  • srep16286.pdf
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs4925386
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
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Risk Prediction Models for Colorectal Cancer: A Systematic Review.

Cancer Prevention Research (Philadelphia, Pa.)
Usher-Smith, Juliet A JA; Walter, Fiona M FM; Emery, Jon D JD; Win, Aung K AK; Griffin, Simon J SJ
Publication Date: 2016-01

Variant appearance in text: rs4925386
PubMed Link: 26464100
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Genetics and Genetic Biomarkers in Sporadic Colorectal Cancer.

Gastroenterology
Carethers, John M JM; Jung, Barbara H BH
Publication Date: 2015-10

Variant appearance in text: rs4925386
PubMed Link: 26216840
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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: rs4925386
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
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Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population.

World Journal Of Gastroenterology
Geng, Ting-Ting TT; Xun, Xiao-Jie XJ; Li, Sen S; Feng, Tian T; Wang, Li-Ping LP; Jin, Tian-Bo TB; Hou, Peng P
Publication Date: 2015-06-14

Variant appearance in text: rs4925386
PubMed Link: 26078566
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Analyses of 7,635 Patients with Colorectal Cancer Using Independent Training and Validation Cohorts Show That rs9929218 in CDH1 Is a Prognostic Marker of Survival.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Smith, Christopher G CG; Fisher, David D; Harris, Rebecca R; Maughan, Timothy S TS; Phipps, Amanda I AI; Richman, Susan S; Seymour, Matthew M; Tomlinson, Ian I; Rosmarin, Dan D; Kerr, David D; Chan, Andrew T AT; Peters, Ulrike U; Newcomb, Polly A PA; Idziaszczyk, Shelley S; West, Hannah H; Meade, Angela A; Kaplan, Richard R; Cheadle, Jeremy P JP
Publication Date: 2015-08-01

Variant appearance in text: rs4925386
PubMed Link: 25873087
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Use of genome-wide association studies for cancer research and drug repositioning.

Plos One
Zhang, Jizhun J; Jiang, Kewei K; Lv, Liang L; Wang, Hui H; Shen, Zhanlong Z; Gao, Zhidong Z; Wang, Bo B; Yang, Yang Y; Ye, Yingjiang Y; Wang, Shan S
Publication Date: 2015

Variant appearance in text: rs4925386
PubMed Link: 25803826
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A retrospective observational study of the relationship between single nucleotide polymorphisms associated with the risk of developing colorectal cancer and survival.

Plos One
Morris, Eva J A EJ; Penegar, Steve S; Whiffin, Nicola N; Broderick, Peter P; Bishop, D Timothy DT; Northwood, Emma E; Quirke, Philip P; Finan, Paul P; Houlston, Richard S RS
Publication Date: 2015

Variant appearance in text: rs4925386
PubMed Link: 25710502
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Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.

Nature Communications
Jäger, Roland R; Migliorini, Gabriele G; Henrion, Marc M; Kandaswamy, Radhika R; Speedy, Helen E HE; Heindl, Andreas A; Whiffin, Nicola N; Carnicer, Maria J MJ; Broome, Laura L; Dryden, Nicola N; Nagano, Takashi T; Schoenfelder, Stefan S; Enge, Martin M; Yuan, Yinyin Y; Taipale, Jussi J; Fraser, Peter P; Fletcher, Olivia O; Houlston, Richard S RS
Publication Date: 2015-02-19

Variant appearance in text: rs4925386
PubMed Link: 25695508
Variant Present in the following documents:
  • ncomms7178-s1.pdf
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A model to determine colorectal cancer risk using common genetic susceptibility loci.

Gastroenterology
Hsu, Li L; Jeon, Jihyoun J; Brenner, Hermann H; Gruber, Stephen B SB; Schoen, Robert E RE; Berndt, Sonja I SI; Chan, Andrew T AT; Chang-Claude, Jenny J; Du, Mengmeng M; Gong, Jian J; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Hutter, Carolyn M CM; Lin, Yi Y; Nishihara, Reiko R; Ogino, Shuji S; Prentice, Ross L RL; Schumacher, Fredrick R FR; Seminara, Daniela D; Slattery, Martha L ML; Thomas, Duncan C DC; Thornquist, Mark M; Newcomb, Polly A PA; Potter, John D JD; Zheng, Yingye Y; White, Emily E; Peters, Ulrike U; , ; ,
Publication Date: 2015-06

Variant appearance in text: rs4925386
PubMed Link: 25683114
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Functional annotation of colon cancer risk SNPs.

Nature Communications
Yao, Lijing L; Tak, Yu Gyoung YG; Berman, Benjamin P BP; Farnham, Peggy J PJ
Publication Date: 2014-09-30

Variant appearance in text: rs4925386
PubMed Link: 25268989
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  • Main text
  • ncomms6114.pdf
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Gene-environment interaction involving recently identified colorectal cancer susceptibility Loci.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Kantor, Elizabeth D ED; Hutter, Carolyn M CM; Minnier, Jessica J; Berndt, Sonja I SI; Brenner, Hermann H; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Casey, Graham G; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Cotterchio, Michelle M; Du, Mengmeng M; Duggan, David D; Fuchs, Charles S CS; Giovannucci, Edward L EL; Gong, Jian J; Harrison, Tabitha A TA; Hayes, Richard B RB; Henderson, Brian E BE; Hoffmeister, Michael M; Hopper, John L JL; Jenkins, Mark A MA; Jiao, Shuo S; Kolonel, Laurence N LN; Le Marchand, Loic L; Lemire, Mathieu M; Ma, Jing J; Newcomb, Polly A PA; Ochs-Balcom, Heather M HM; Pflugeisen, Bethann M BM; Potter, John D JD; Rudolph, Anja A; Schoen, Robert E RE; Seminara, Daniela D; Slattery, Martha L ML; Stelling, Deanna L DL; Thomas, Fridtjof F; Thornquist, Mark M; Ulrich, Cornelia M CM; Warnick, Greg S GS; Zanke, Brent W BW; Peters, Ulrike U; Hsu, Li L; White, Emily E
Publication Date: 2014-09

Variant appearance in text: rs4925386
PubMed Link: 24994789
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Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types.

Human Molecular Genetics
Li, Qiyuan Q; Stram, Alexander A; Chen, Constance C; Kar, Siddhartha S; Gayther, Simon S; Pharoah, Paul P; Haiman, Christopher C; Stranger, Barbara B; Kraft, Peter P; Freedman, Matthew L ML
Publication Date: 2014-10-01

Variant appearance in text: rs4925386
PubMed Link: 24907074
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Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

Nature Genetics
Zhang, Ben B; Jia, Wei-Hua WH; Matsuda, Koichi K; Kweon, Sun-Seog SS; Matsuo, Keitaro K; Xiang, Yong-Bing YB; Shin, Aesun A; Jee, Sun Ha SH; Kim, Dong-Hyun DH; Cai, Qiuyin Q; Long, Jirong J; Shi, Jiajun J; Wen, Wanqing W; Yang, Gong G; Zhang, Yanfeng Y; Li, Chun C; Li, Bingshan B; Guo, Yan Y; Ren, Zefang Z; Ji, Bu-Tian BT; Pan, Zhi-Zhong ZZ; Takahashi, Atsushi A; Shin, Min-Ho MH; Matsuda, Fumihiko F; Gao, Yu-Tang YT; Oh, Jae Hwan JH; Kim, Soriul S; Ahn, Yoon-Ok YO; , ; Chan, Andrew T AT; Chang-Claude, Jenny J; Slattery, Martha L ML; , ; Gruber, Stephen B SB; Schumacher, Fredrick R FR; Stenzel, Stephanie L SL; , ; Casey, Graham G; Kim, Hyeong-Rok HR; Jeong, Jin-Young JY; Park, Ji Won JW; Li, Hong-Lan HL; Hosono, Satoyo S; Cho, Sang-Hee SH; Kubo, Michiaki M; Shu, Xiao-Ou XO; Zeng, Yi-Xin YX; Zheng, Wei W
Publication Date: 2014-06

Variant appearance in text: rs4925386
PubMed Link: 24836286
Variant Present in the following documents:
  • Main text
  • NIHMS588441-supplement-1.pdf
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Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.

European Journal Of Human Genetics : Ejhg
Cheng, Timothy H T TH; Gorman, Maggie M; Martin, Lynn L; Barclay, Ella E; Casey, Graham G; , ; , ; Saunders, Brian B; Thomas, Huw H; Clark, Sue S; Tomlinson, Ian I
Publication Date: 2015-02

Variant appearance in text: rs4925386
PubMed Link: 24801760
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