BRCA2 c.1062T>G ;(p.F354L)

Variant ID: 13-32906677-T-G

NM_000059.3(BRCA2):c.1062T>G;(p.F354L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Hereditary Diffuse Gastric Cancer: A 2022 Update.

Journal Of Personalized Medicine
Kole, Christo C; Charalampakis, Nikolaos N; Sakellariou, Stratigoula S; Papaxoinis, George G; Apostolou, Konstantinos G KG; Machairas, Nikolaos N; Papanikolaou, Ioannis S IS; Schizas, Dimitrios D
Publication Date: 2022-12-08

Variant appearance in text: BRCA2: F354L
PubMed Link: 36556253
Variant Present in the following documents:
  • jpm-12-02032.pdf
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: F354L
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_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: BRCA2: F354L
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: 1062T>G; Phe354Leu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Tumorigenicity-associated characteristics of human iPS cell lines.

Plos One
Yasuda, Satoshi S; Kusakawa, Shinji S; Kuroda, Takuya T; Miura, Takumi T; Tano, Keiko K; Takada, Nozomi N; Matsuyama, Satoko S; Matsuyama, Akifumi A; Nasu, Michiyo M; Umezawa, Akihiro A; Hayakawa, Takao T; Tsutsumi, Hideki H; Sato, Yoji Y
Publication Date: 2018

Variant appearance in text: BRCA2: F354L
PubMed Link: 30286143
Variant Present in the following documents:
  • pone.0205022.s007.xlsx, sheet 1
  • pone.0205022.s006.xlsx, sheet 1
View BVdb publication page



Rucaparib Monotherapy in Patients With Pancreatic Cancer and a Known Deleterious BRCA Mutation.

Jco Precision Oncology
Shroff, Rachna T RT; Hendifar, Andrew A; McWilliams, Robert R RR; Geva, Ravit R; Epelbaum, Ron R; Rolfe, Lindsey L; Goble, Sandra S; Lin, Kevin K KK; Biankin, Andrew V AV; Giordano, Heidi H; Vonderheide, Robert H RH; Domchek, Susan M SM
Publication Date: 2018

Variant appearance in text: BRCA2: F354L
PubMed Link: 30051098
Variant Present in the following documents:
  • Main text
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: F354L
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

British Journal Of Cancer
Leongamornlert, D D; Saunders, E E; Dadaev, T T; Tymrakiewicz, M M; Goh, C C; Jugurnauth-Little, S S; Kozarewa, I I; Fenwick, K K; Assiotis, I I; Barrowdale, D D; Govindasami, K K; Guy, M M; Sawyer, E E; Wilkinson, R R; , ; Antoniou, A C AC; Eeles, R R; Kote-Jarai, Z Z
Publication Date: 2014-03-18

Variant appearance in text: BRCA2: Phe354Leu
PubMed Link: 24556621
Variant Present in the following documents:
View BVdb publication page