BRCA2 c.93G>C ;(p.W31C)

Variant ID: 13-32893239-G-C

NM_000059.3(BRCA2):c.93G>C;(p.W31C)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs80359214
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRCA2: W31C
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Dipeptidyl peptidase 9 triggers BRCA2 degradation and promotes DNA damage repair.

Embo Reports
Bolgi, Oguz O; Silva-Garcia, Maria M; Ross, Breyan B; Pilla, Esther E; Kari, Vijayalakshmi V; Killisch, Markus M; Spitzner, Melanie M; Stark, Nadine N; Lenz, Christof C; Weiss, Konstantin K; Donzelli, Laura L; Gorrell, Mark D MD; Grade, Marian M; Riemer, Jan J; Urlaub, Henning H; Dobbelstein, Matthias M; Huber, Robert R; Geiss-Friedlander, Ruth R
Publication Date: 2022-10-06

Variant appearance in text: BRCA2: W31C
PubMed Link: 35912982
Variant Present in the following documents:
  • Main text
  • EMBR-23-e54136-s009.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: BRCA2: 93G>C; W31C
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: W31C
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Ensembl 2022.

Nucleic Acids Research
Cunningham, Fiona F; Allen, James E JE; Allen, Jamie J; Alvarez-Jarreta, Jorge J; Amode, M Ridwan MR; Armean, Irina M IM; Austine-Orimoloye, Olanrewaju O; Azov, Andrey G AG; Barnes, If I; Bennett, Ruth R; Berry, Andrew A; Bhai, Jyothish J; Bignell, Alexandra A; Billis, Konstantinos K; Boddu, Sanjay S; Brooks, Lucy L; Charkhchi, Mehrnaz M; Cummins, Carla C; Da Rin Fioretto, Luca L; Davidson, Claire C; Dodiya, Kamalkumar K; Donaldson, Sarah S; El Houdaigui, Bilal B; El Naboulsi, Tamara T; Fatima, Reham R; Giron, Carlos Garcia CG; Genez, Thiago T; Martinez, Jose Gonzalez JG; Guijarro-Clarke, Cristina C; Gymer, Arthur A; Hardy, Matthew M; Hollis, Zoe Z; Hourlier, Thibaut T; Hunt, Toby T; Juettemann, Thomas T; Kaikala, Vinay V; Kay, Mike M; Lavidas, Ilias I; Le, Tuan T; Lemos, Diana D; Marugán, José Carlos JC; Mohanan, Shamika S; Mushtaq, Aleena A; Naven, Marc M; Ogeh, Denye N DN; Parker, Anne A; Parton, Andrew A; Perry, Malcolm M; Piližota, Ivana I; Prosovetskaia, Irina I; Sakthivel, Manoj Pandian MP; Salam, Ahamed Imran Abdul AIA; Schmitt, Bianca M BM; Schuilenburg, Helen H; Sheppard, Dan D; Pérez-Silva, José G JG; Stark, William W; Steed, Emily E; Sutinen, Kyösti K; Sukumaran, Ranjit R; Sumathipala, Dulika D; Suner, Marie-Marthe MM; Szpak, Michal M; Thormann, Anja A; Tricomi, Francesca Floriana FF; Urbina-Gómez, David D; Veidenberg, Andres A; Walsh, Thomas A TA; Walts, Brandon B; Willhoft, Natalie N; Winterbottom, Andrea A; Wass, Elizabeth E; Chakiachvili, Marc M; Flint, Bethany B; Frankish, Adam A; Giorgetti, Stefano S; Haggerty, Leanne L; Hunt, Sarah E SE; IIsley, Garth R GR; Loveland, Jane E JE; Martin, Fergal J FJ; Moore, Benjamin B; Mudge, Jonathan M JM; Muffato, Matthieu M; Perry, Emily E; Ruffier, Magali M; Tate, John J; Thybert, David D; Trevanion, Stephen J SJ; Dyer, Sarah S; Harrison, Peter W PW; Howe, Kevin L KL; Yates, Andrew D AD; Zerbino, Daniel R DR; Flicek, Paul P
Publication Date: 2021-11-17

Variant appearance in text: BRCA2: Trp31Cys
PubMed Link: 34791404
Variant Present in the following documents:
  • Main text
  • gkab1049.pdf
View BVdb publication page



Ensembl 2022.

Nucleic Acids Research
Cunningham, Fiona F; Allen, James E JE; Allen, Jamie J; Alvarez-Jarreta, Jorge J; Amode, M Ridwan MR; Armean, Irina M IM; Austine-Orimoloye, Olanrewaju O; Azov, Andrey G AG; Barnes, If I; Bennett, Ruth R; Berry, Andrew A; Bhai, Jyothish J; Bignell, Alexandra A; Billis, Konstantinos K; Boddu, Sanjay S; Brooks, Lucy L; Charkhchi, Mehrnaz M; Cummins, Carla C; Da Rin Fioretto, Luca L; Davidson, Claire C; Dodiya, Kamalkumar K; Donaldson, Sarah S; El Houdaigui, Bilal B; El Naboulsi, Tamara T; Fatima, Reham R; Giron, Carlos Garcia CG; Genez, Thiago T; Martinez, Jose Gonzalez JG; Guijarro-Clarke, Cristina C; Gymer, Arthur A; Hardy, Matthew M; Hollis, Zoe Z; Hourlier, Thibaut T; Hunt, Toby T; Juettemann, Thomas T; Kaikala, Vinay V; Kay, Mike M; Lavidas, Ilias I; Le, Tuan T; Lemos, Diana D; Marugán, José Carlos JC; Mohanan, Shamika S; Mushtaq, Aleena A; Naven, Marc M; Ogeh, Denye N DN; Parker, Anne A; Parton, Andrew A; Perry, Malcolm M; Piližota, Ivana I; Prosovetskaia, Irina I; Sakthivel, Manoj Pandian MP; Salam, Ahamed Imran Abdul AIA; Schmitt, Bianca M BM; Schuilenburg, Helen H; Sheppard, Dan D; Pérez-Silva, José G JG; Stark, William W; Steed, Emily E; Sutinen, Kyösti K; Sukumaran, Ranjit R; Sumathipala, Dulika D; Suner, Marie-Marthe MM; Szpak, Michal M; Thormann, Anja A; Tricomi, Francesca Floriana FF; Urbina-Gómez, David D; Veidenberg, Andres A; Walsh, Thomas A TA; Walts, Brandon B; Willhoft, Natalie N; Winterbottom, Andrea A; Wass, Elizabeth E; Chakiachvili, Marc M; Flint, Bethany B; Frankish, Adam A; Giorgetti, Stefano S; Haggerty, Leanne L; Hunt, Sarah E SE; IIsley, Garth R GR; Loveland, Jane E JE; Martin, Fergal J FJ; Moore, Benjamin B; Mudge, Jonathan M JM; Muffato, Matthieu M; Perry, Emily E; Ruffier, Magali M; Tate, John J; Thybert, David D; Trevanion, Stephen J SJ; Dyer, Sarah S; Harrison, Peter W PW; Howe, Kevin L KL; Yates, Andrew D AD; Zerbino, Daniel R DR; Flicek, Paul P
Publication Date: 2022-01-07

Variant appearance in text: BRCA2: Trp31Cys
PubMed Link: 34791404
Variant Present in the following documents:
  • Main text
  • gkab1049.pdf
View BVdb publication page



BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and single-stranded gap formation after DNA damage.

Nature Communications
Kang, Zhihua Z; Fu, Pan P; Alcivar, Allen L AL; Fu, Haiqing H; Redon, Christophe C; Foo, Tzeh Keong TK; Zuo, Yamei Y; Ye, Caiyong C; Baxley, Ryan R; Madireddy, Advaitha A; Buisson, Remi R; Bielinsky, Anja-Katrin AK; Zou, Lee L; Shen, Zhiyuan Z; Aladjem, Mirit I MI; Xia, Bing B
Publication Date: 2021-10-13

Variant appearance in text: BRCA2: W31C
PubMed Link: 34645815
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26227.pdf
View BVdb publication page



Guardians of the Genome: BRCA2 and Its Partners.

Genes
Le, Hang Phuong HP; Heyer, Wolf-Dietrich WD; Liu, Jie J
Publication Date: 2021-08-10

Variant appearance in text: BRCA2: W31C
PubMed Link: 34440403
Variant Present in the following documents:
  • Main text
  • genes-12-01229.pdf
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: BRCA2: 93G>C; W31C; rs80359214
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



High-throughput functional evaluation of BRCA2 variants of unknown significance.

Nature Communications
Ikegami, Masachika M; Kohsaka, Shinji S; Ueno, Toshihide T; Momozawa, Yukihide Y; Inoue, Satoshi S; Tamura, Kenji K; Shimomura, Akihiko A; Hosoya, Noriko N; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2020-05-22

Variant appearance in text: BRCA2: W31C
PubMed Link: 32444794
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_16141.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 93G>C; Trp31Cys
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA2: 93G>C; Trp31Cys; rs80359214
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA2: 93G>C
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: W31C
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer.

Wellcome Open Research
Bleuyard, Jean-Yves JY; Butler, Rosie M RM; Esashi, Fumiko F
Publication Date: 2017

Variant appearance in text: BRCA2: W31C
PubMed Link: 29387807
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-2-14894.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: BRCA2: W31C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.

Plos Genetics
Hartford, Suzanne A SA; Chittela, Rajanikant R; Ding, Xia X; Vyas, Aradhana A; Martin, Betty B; Burkett, Sandra S; Haines, Diana C DC; Southon, Eileen E; Tessarollo, Lino L; Sharan, Shyam K SK
Publication Date: 2016-08

Variant appearance in text: BRCA2: W31C
PubMed Link: 27490902
Variant Present in the following documents:
  • Main text
  • pgen.1006236.pdf
View BVdb publication page



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: rs80359214
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page