BRCA2 c.316+1G>T

Variant ID: 13-32893463-G-T

NM_000059.3(BRCA2):c.316+1G>T

This variant was identified in 8 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



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 316+1G>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
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: 316+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Intra-Tumoral CD8+ T-Cell Infiltration and PD-L1 Positivity in Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.

Frontiers In Oncology
Golesworthy, Bryn B; Wang, Yifan Y; Tanti, Amanda A; Pacis, Alain A; Romero, Joan Miguel JM; Cuggia, Adeline A; Domecq, Celine C; Bourdel, Guillaume G; Denroche, Robert E RE; Jang, Gun Ho GH; Grant, Robert C RC; Borgida, Ayelet A; Grünwald, Barbara T BT; Dodd, Anna A; Wilson, Julie M JM; Bourque, Guillaume G; O'Kane, Grainne M GM; Fischer, Sandra E SE; Kron, Chelsea Maedler CM; Fiset, Pierre-Olivier PO; Omeroglu, Atilla A; Foulkes, William D WD; Gallinger, Steven S; Guiot, Marie-Christine MC; Gao, Zu-Hua ZH; Zogopoulos, George G
Publication Date: 2022

Variant appearance in text: BRCA2: 316+1G>T
PubMed Link: 35547873
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 3
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 316+1G>T
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.

Cancers
Faldoni, Flávia L C FLC; Villacis, Rolando A R RAR; Canto, Luisa M LM; Fonseca-Alves, Carlos E CE; Cury, Sarah S SS; Larsen, Simon J SJ; Aagaard, Mads M MM; Souza, Cristiano P CP; Scapulatempo-Neto, Cristovam C; Osório, Cynthia A B T CABT; Baumbach, Jan J; Marchi, Fabio A FA; Rogatto, Silvia R SR
Publication Date: 2020-09-30

Variant appearance in text: BRCA2: 316+1G>T
PubMed Link: 33007869
Variant Present in the following documents:
  • Main text
  • cancers-12-02816.pdf
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: 316+1G>T
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Oncotarget
Caputo, Sandrine M SM; Léone, Mélanie M; Damiola, Francesca F; Ehlen, Asa A; Carreira, Aura A; Gaidrat, Pascaline P; Martins, Alexandra A; Brandão, Rita D RD; Peixoto, Ana A; Vega, Ana A; Houdayer, Claude C; Delnatte, Capucine C; Bronner, Myriam M; Muller, Danièle D; Castera, Laurent L; Guillaud-Bataille, Marine M; Søkilde, Inge I; Uhrhammer, Nancy N; Demontety, Sophie S; Tubeuf, Hélène H; Castelain, Gaïa G; , ; Jensen, Uffe Birk UB; Petitalot, Ambre A; Krieger, Sophie S; Lefol, Cédrick C; Moncoutier, Virginie V; Boutry-Kryza, Nadia N; Nielsen, Henriette Roed HR; Sinilnikova, Olga O; Stoppa-Lyonnet, Dominique D; Spurdle, Amanda B AB; Teixeira, Manuel R MR; Coulet, Florence F; Thomassen, Mads M; Rouleau, Etienne E
Publication Date: 2018-04-03

Variant appearance in text: BRCA2: 316+1G>T
PubMed Link: 29707112
Variant Present in the following documents:
  • Main text
  • oncotarget-09-17334-s001.pdf
  • oncotarget-09-17334.pdf
View BVdb publication page