BRCA2 c.1714G>T ;(p.V572L)

Variant ID: 13-32907329-G-T

NM_000059.3(BRCA2):c.1714G>T;(p.V572L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Utilizing cell-free DNA to predict risk of developing brain metastases in patients with metastatic breast cancer.

Npj Breast Cancer
Vidula, Neelima N; Niemierko, Andrzej A; Hesler, Katherine K; Ryan, Lianne L; Moy, Beverly B; Isakoff, Steven S; Ellisen, Leif L; Juric, Dejan D; Bardia, Aditya A
Publication Date: 2023-04-19

Variant appearance in text: BRCA2: V572L
PubMed Link: 37076495
Variant Present in the following documents:
  • 41523_2023_528_MOESM1_ESM.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: V572L
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
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: 1714G>T; Val572Leu
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, 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: V572L
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Mutational spectrum in breast cancer associated and genes in Colombia.

Colombia Medica (Cali, Colombia)
Briceño-Balcázar, Ignacio I; Gómez-Gutiérrez, Alberto A; Díaz-Dussán, Natalia Andrea NA; Noguera-Santamaría, María Claudia MC; Díaz-Rincón, Diego D; Casas-Gómez, María Consuelo MC
Publication Date: 2017-06-30

Variant appearance in text: BRCA2: V572L
PubMed Link: 29021639
Variant Present in the following documents:
  • Main text
  • 1657-9534-cm-48-02-00058.pdf
View BVdb publication page