BRCA2 c.1379A>C ;(p.N460T)

Variant ID: 13-32906994-A-C

NM_000059.3(BRCA2):c.1379A>C;(p.N460T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Molecular Oncology
Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C
Publication Date: 2022-05

Variant appearance in text: BRCA2: N460T
PubMed Link: 34866317
Variant Present in the following documents:
  • MOL2-16-1969-s001.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: 1379A>C; Asn460Thr
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: N460T
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page