BRIP1 c.517C>T ;(p.R173C)

Variant ID: 17-59924572-G-A

NM_032043.2(BRIP1):c.517C>T;(p.R173C)

This variant was identified in 43 publications

View GRCh38 version.




Publications:


Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications
Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J
Publication Date: 2022-10

Variant appearance in text: BRIP1: 517C>T; R173C
PubMed Link: 36969747
Variant Present in the following documents:
  • crc-22-0258-s08.xlsx, sheet 1
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRIP1: 517C>T; R173C; rs4988345
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 2
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: BRIP1: R173C
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.

Genes
Nassar, Auhood A; Zekri, Abdel-Rahman N AN; Kamel, Mahmoud M MM; Elberry, Mostafa H MH; Lotfy, Mai M MM; Seadawy, Mohamed G MG; Hassan, Zeinab K ZK; Soliman, Hany K HK; Lymona, Ahmed M AM; Youssef, Amira Salah El-Din ASE
Publication Date: 2022-12-29

Variant appearance in text: rs4988345
PubMed Link: 36672847
Variant Present in the following documents:
  • genes-14-00106.pdf
View BVdb publication page



Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022

Variant appearance in text: BRIP1: 517C>T; rs4988345
PubMed Link: 35495172
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
  • DataSheet1.xlsx, sheet 8
View BVdb publication page



Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: BRIP1: R173C
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRIP1: R173C
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: BRIP1: R173C
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.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: BRIP1: 517C>T; R173C; rs4988345
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: BRIP1: R173C
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRIP1: R173C
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: BRIP1: Arg173Cys; rs4988345
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_652.pdf
View BVdb publication page



Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports
Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M
Publication Date: 2019-12-27

Variant appearance in text: BRIP1: 517C>T; Arg173Cys; rs4988345
PubMed Link: 31882575
Variant Present in the following documents:
  • 41598_2019_55515_MOESM1_ESM.pdf
View BVdb publication page



Drug screening approach combines epigenetic sensitization with immunochemotherapy in cancer.

Clinical Epigenetics
Facciotto, Chiara C; Casado, Julia J; Turunen, Laura L; Leivonen, Suvi-Katri SK; Tumiati, Manuela M; Rantanen, Ville V; Kauppi, Liisa L; Lehtonen, Rainer R; Leppä, Sirpa S; Wennerberg, Krister K; Hautaniemi, Sampsa S
Publication Date: 2019-12-11

Variant appearance in text: BRIP1: 517C>T; R173C; rs4988345
PubMed Link: 31829282
Variant Present in the following documents:
  • 13148_2019_781_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: BRIP1: 517C>T; R173C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: BRIP1: R173C
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: BRIP1: 517C>T; Arg173Cys
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15

Variant appearance in text: BRIP1: 517C>T; Arg173Cys
PubMed Link: 30414346
Variant Present in the following documents:
  • Main text
  • IJC-144-2453.pdf
View BVdb publication page



Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

The Journal Of Pathology. Clinical Research
Kutasovic, Jamie R JR; McCart Reed, Amy E AE; Males, Renique R; Sim, Sarah S; Saunus, Jodi M JM; Dalley, Andrew A; McEvoy, Christopher R CR; Dedina, Liana L; Miller, Gregory G; Peyton, Stephen S; Reid, Lynne L; Lal, Samir S; Niland, Colleen C; Ferguson, Kaltin K; Fellowes, Andrew P AP; Al-Ejeh, Fares F; Lakhani, Sunil R SR; Cummings, Margaret C MC; Simpson, Peter T PT
Publication Date: 2019-01

Variant appearance in text: BRIP1: 517C>T; Arg173Cys; rs4988345
PubMed Link: 30246500
Variant Present in the following documents:
  • CJP2-5-25-s002.xlsx, sheet 11
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: BRIP1: 517C>T; R173C
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-05-08

Variant appearance in text: FANCJ: R173C; rs4988345
PubMed Link: 29844865
Variant Present in the following documents:
  • oncotarget-09-23960-s003.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: BRIP1: R173C; rs4988345
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Breast Cancer Research : Bcr
Weber-Lassalle, Nana N; Hauke, Jan J; Ramser, Juliane J; Richters, Lisa L; Groß, Eva E; Blümcke, Britta B; Gehrig, Andrea A; Kahlert, Anne-Karin AK; Müller, Clemens R CR; Hackmann, Karl K; Honisch, Ellen E; Weber-Lassalle, Konstantin K; Niederacher, Dieter D; Borde, Julika J; Thiele, Holger H; Ernst, Corinna C; Altmüller, Janine J; Neidhardt, Guido G; Nürnberg, Peter P; Klaschik, Kristina K; Schroeder, Christopher C; Platzer, Konrad K; Volk, Alexander E AE; Wang-Gohrke, Shan S; Just, Walter W; Auber, Bernd B; Kubisch, Christian C; Schmidt, Gunnar G; Horvath, Judit J; Wappenschmidt, Barbara B; Engel, Christoph C; Arnold, Norbert N; Dworniczak, Bernd B; Rhiem, Kerstin K; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E
Publication Date: 2018-01-24

Variant appearance in text: BRIP1: 517C>T; Arg173Cys; rs4988345
PubMed Link: 29368626
Variant Present in the following documents:
  • 13058_2018_935_MOESM1_ESM.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRIP1: 517C>T; Arg173Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.

Journal Of Breast Cancer
Venkateshwari, Ananthapur A; Clark, David Wayne DW; Nallari, Pratibha P; Vinod, Cingeetham C; Kumarasamy, Thangaraj T; Reddy, Goverdhan G; Jyothy, Akka A; Kumar, Malladi Vijay MV; Ramaiyer, Raghuraman R; Palle, Komaraiah K
Publication Date: 2017-03

Variant appearance in text: BRIP1: R173C
PubMed Link: 28382101
Variant Present in the following documents:
  • jbc-20-104.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: BRIP1: R173C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Human Molecular Genetics
Permuth, Jennifer B JB; Pirie, Ailith A; Ann Chen, Y Y; Lin, Hui-Yi HY; Reid, Brett M BM; Chen, Zhihua Z; Monteiro, Alvaro A; Dennis, Joe J; Mendoza-Fandino, Gustavo G; , ; , ; Anton-Culver, Hoda H; Bandera, Elisa V EV; Bisogna, Maria M; Brinton, Louise L; Brooks-Wilson, Angela A; Carney, Michael E ME; Chenevix-Trench, Georgia G; Cook, Linda S LS; Cramer, Daniel W DW; Cunningham, Julie M JM; Cybulski, Cezary C; D'Aloisio, Aimee A AA; Anne Doherty, Jennifer J; Earp, Madalene M; Edwards, Robert P RP; Fridley, Brooke L BL; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Goodman, Marc T MT; Gronwald, Jacek J; Hogdall, Estrid E; Iversen, Edwin S ES; Jakubowska, Anna A; Jensen, Allan A; Karlan, Beth Y BY; Kelemen, Linda E LE; Kjaer, Suzanne K SK; Kraft, Peter P; Le, Nhu D ND; Levine, Douglas A DA; Lissowska, Jolanta J; Lubinski, Jan J; Matsuo, Keitaro K; Menon, Usha U; Modugno, Rosemary R; Moysich, Kirsten B KB; Nakanishi, Toru T; Ness, Roberta B RB; Olson, Sara S; Orlow, Irene I; Pearce, Celeste L CL; Pejovic, Tanja T; Poole, Elizabeth M EM; Ramus, Susan J SJ; Anne Rossing, Mary M; Sandler, Dale P DP; Shu, Xiao-Ou XO; Song, Honglin H; Taylor, Jack A JA; Teo, Soo-Hwang SH; Terry, Kathryn L KL; Thompson, Pamela J PJ; Tworoger, Shelley S SS; Webb, Penelope M PM; Wentzensen, Nicolas N; Wilkens, Lynne R LR; Winham, Stacey S; Woo, Yin-Ling YL; Wu, Anna H AH; Yang, Hannah H; Zheng, Wei W; Ziogas, Argyrios A; Phelan, Catherine M CM; Schildkraut, Joellen M JM; Berchuck, Andrew A; Goode, Ellen L EL; Pharoah, Paul D P PD; Sellers, Thomas A TA; ,
Publication Date: 2016-08-15

Variant appearance in text: rs4988345
PubMed Link: 27378695
Variant Present in the following documents:
  • Main text
View BVdb publication page



No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Journal Of Medical Genetics
Easton, Douglas F DF; Lesueur, Fabienne F; Decker, Brennan B; Michailidou, Kyriaki K; Li, Jun J; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Ahmad, Jamil J; Thompson, Ella R ER; Damiola, Francesca F; Pertesi, Maroulio M; Voegele, Catherine C; Mebirouk, Noura N; Robinot, Nivonirina N; Durand, Geoffroy G; Forey, Nathalie N; Luben, Robert N RN; Ahmed, Shahana S; Aittomäki, Kristiina K; Anton-Culver, Hoda H; Arndt, Volker V; , ; Baynes, Caroline C; Beckman, Matthias W MW; Benitez, Javier J; Van Den Berg, David D; Blot, William J WJ; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Brenner, Hermann H; Chang-Claude, Jenny J; Chia, Kee Seng KS; Choi, Ji-Yeob JY; Conroy, Don M DM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Darabi, Hatef H; Devilee, Peter P; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Fostira, Florentia F; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hart, Steven N SN; Hartman, Mikael M; Hooning, Maartje J MJ; Hsiung, Chia-Ni CN; Ito, Hidemi H; Jakubowska, Anna A; James, Paul A PA; John, Esther M EM; Johnson, Nichola N; Jones, Michael M; Kabisch, Maria M; Kang, Daehee D; , ; Kosma, Veli-Matti VM; Kristensen, Vessela V; Lambrechts, Diether D; Li, Na N; , ; Lindblom, Annika A; Long, Jirong J; Lophatananon, Artitaya A; Lubinski, Jan J; Mannermaa, Arto A; Manoukian, Siranoush S; Margolin, Sara S; Matsuo, Keitaro K; Meindl, Alfons A; Mitchell, Gillian G; Muir, Kenneth K; , ; Nevelsteen, Ines I; van den Ouweland, Ans A; Peterlongo, Paolo P; Phuah, Sze Yee SY; Pylkäs, Katri K; Rowley, Simone M SM; Sangrajrang, Suleeporn S; Schmutzler, Rita K RK; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Southey, Melissa C MC; Surowy, Harald H; Swerdlow, Anthony A; Teo, Soo H SH; Tollenaar, Rob A E M RA; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; Vachon, Celine C; Verhoef, Senno S; Wong-Brown, Michelle M; Zheng, Wei W; Zheng, Ying Y; Nevanlinna, Heli H; Scott, Rodney J RJ; Andrulis, Irene L IL; Wu, Anna H AH; Hopper, John L JL; Couch, Fergus J FJ; Winqvist, Robert R; Burwinkel, Barbara B; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Rudolph, Anja A; Dörk, Thilo T; Brauch, Hiltrud H; Hamann, Ute U; Neuhausen, Susan L SL; Milne, Roger L RL; Fletcher, Olivia O; Pharoah, Paul D P PD; Campbell, Ian G IG; Dunning, Alison M AM; Le Calvez-Kelm, Florence F; Goldgar, David E DE; Tavtigian, Sean V SV; Chenevix-Trench, Georgia G
Publication Date: 2016-05

Variant appearance in text: N/A
PubMed Link: 26921362
Variant Present in the following documents:
View BVdb publication page



Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.

Cancer Research And Treatment
Kim, Haeyoung H; Cho, Dae-Yeon DY; Choi, Doo Ho DH; Jung, Gee Hue GH; Shin, Inkyung I; Park, Won W; Huh, Seung Jae SJ; Nam, Seok Jin SJ; Lee, Jeong Eon JE; Gil, Won Ho WH; Kim, Seok Won SW
Publication Date: 2016-07

Variant appearance in text: BRIP1: R173C
PubMed Link: 26790966
Variant Present in the following documents:
  • Main text
  • crt-2015-191.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: FANCJ: R173C; rs4988345
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Journal Of Medical Genetics
Li, Jun J; Meeks, Huong H; Feng, Bing-Jian BJ; Healey, Sue S; Thorne, Heather H; Makunin, Igor I; Ellis, Jonathan J; , ; Campbell, Ian I; Southey, Melissa M; Mitchell, Gillian G; Clouston, David D; Kirk, Judy J; Goldgar, David D; Chenevix-Trench, Georgia G
Publication Date: 2016-01

Variant appearance in text: BRIP1: 517C>T; Arg173Cys
PubMed Link: 26534844
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: BRIP1: R173C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: BRIP1: R173C; rs4988345
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 4
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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: BRIP1: 517C>T; R173C; rs4988345
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: BRIP1: R173C; rs4988345
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: BRIP1: R173C; rs4988345
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: BRIP1: R173C
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
  • NIHMS551112-supplement-9.xlsx, sheet 1
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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: rs4988345
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
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Disease-causing missense mutations in human DNA helicase disorders.

Mutation Research
Suhasini, Avvaru N AN; Brosh, Robert M RM
Publication Date: 2013

Variant appearance in text: FANCJ: R173C
PubMed Link: 23276657
Variant Present in the following documents:
  • Main text
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FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA.

Mutation Research
Ali, Abdullah Mahmood AM; Singh, Thiyam Ramsing TR; Meetei, Amom Ruhikanta AR
Publication Date: 2009-07-31

Variant appearance in text: FANCJ: R173C
PubMed Link: 19379763
Variant Present in the following documents:
  • Main text
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A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

British Journal Of Cancer
Kote-Jarai, Z Z; Jugurnauth, S S; Mulholland, S S; Leongamornlert, D A DA; Guy, M M; Edwards, S S; Tymrakiewitcz, M M; O'Brien, L L; Hall, A A; Wilkinson, R R; Al Olama, A A AA; Morrison, J J; Muir, K K; Neal, D D; Donovan, J J; Hamdy, F F; Easton, D F DF; Eeles, R R; , ; ,
Publication Date: 2009-01-27

Variant appearance in text: FANCJ: 517C>T; rs4988345
PubMed Link: 19127258
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer.

Plos One
Song, Honglin H; Ramus, Susan J SJ; Kjaer, Susanne Krüger SK; Hogdall, Estrid E; Dicioccio, Richard A RA; Whittemore, Alice S AS; McGuire, Valerie V; Hogdall, Claus C; Jacobs, Ian J IJ; Easton, Douglas F DF; Ponder, Bruce A J BA; Dunning, Alison M AM; Gayther, Simon A SA; Pharoah, Paul D P PD
Publication Date: 2007-03-07

Variant appearance in text: BRIP1: Arg173Cys; rs4988345
PubMed Link: 17342202
Variant Present in the following documents:
  • Main text
  • pone.0000268.pdf
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