BRCA2 c.2612C>G ;(p.S871*)

Variant ID: 13-32911104-C-G

NM_000059.3(BRCA2):c.2612C>G;(p.S871*)

This variant was identified in 11 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



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 2612C>G; Ser871Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Inter-assay variability of next-generation sequencing-based gene panels.

Bmc Medical Genomics
Quy, Pham Nguyen PN; Fukuyama, Keita K; Kanai, Masashi M; Kou, Tadayuki T; Kondo, Tomohiro T; Yoshioka, Masahiro M; Matsubara, Junichi J; Sakuma, Tomohiro T; Minamiguchi, Sachiko S; Matsumoto, Shigemi S; Muto, Manabu M
Publication Date: 2022-04-15

Variant appearance in text: BRCA2: S871*
PubMed Link: 35428255
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1230.pdf
View BVdb publication page



A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings.

Frontiers In Genetics
Yang, Yeran Y; Chen, Jiwei J; Qin, Hong H; Jin, Yaqiong Y; Zhang, Li L; Yang, Shen S; Wang, Huanmin H; Fu, Libing L; Hong, Enyu E; Yu, Yongbo Y; Lu, Jie J; Chang, Yan Y; Ni, Xin X; Xu, Min M; Shi, Tieliu T; Guo, Yongli Y
Publication Date: 2021

Variant appearance in text: BRCA2: S871X
PubMed Link: 34367235
Variant Present in the following documents:
  • Main text
  • fgene-12-652718.pdf
  • Table_1.xlsx, sheet 3
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: 2612C>G; S871X; rs397507634
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: 2612C>G; Ser871X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_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: 2612C>G
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Breast Cancer Research : Bcr
Petridis, Christos C; Arora, Iteeka I; Shah, Vandna V; Megalios, Anargyros A; Moss, Charlotte C; Mera, Anca A; Clifford, Angela A; Gillett, Cheryl C; Pinder, Sarah E SE; Tomlinson, Ian I; Roylance, Rebecca R; Simpson, Michael A MA; Sawyer, Elinor J EJ
Publication Date: 2019-05-06

Variant appearance in text: BRCA2: S871X
PubMed Link: 31060593
Variant Present in the following documents:
  • 13058_2019_1143_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.

Oncotarget
Kondo, Tomohiro T; Kanai, Masashi M; Kou, Tadayuki T; Sakuma, Tomohiro T; Mochizuki, Hiroaki H; Kamada, Mayumi M; Nakatsui, Masahiko M; Uza, Norimitsu N; Kodama, Yuzo Y; Masui, Toshihiko T; Takaori, Kyoichi K; Matsumoto, Shigemi S; Miyake, Hidehiko H; Okuno, Yasushi Y; Muto, Manabu M
Publication Date: 2018-04-13

Variant appearance in text: BRCA2: S871X; rs397507634
PubMed Link: 29731985
Variant Present in the following documents:
  • Main text
  • oncotarget-09-19817.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: BRCA2: 2612C>G; Ser871Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



FANCD2 limits replication stress and genome instability in cells lacking BRCA2.

Nature Structural & Molecular Biology
Michl, Johanna J; Zimmer, Jutta J; Buffa, Francesca M FM; McDermott, Ultan U; Tarsounas, Madalena M
Publication Date: 2016-08

Variant appearance in text: BRCA2: S871*
PubMed Link: 27322732
Variant Present in the following documents:
  • NIHMS69022-supplement-Supplementary_Tables.pdf
View BVdb publication page