Publications:

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: 8999T>G; Leu3000X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: BRCA2: L3000X; rs80359151

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 4
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

View BVdb publication page

Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.

Cold Spring Harbor Molecular Case Studies

Walsh, Michael F MF; Kennedy, Jennifer J; Harlan, Megan M; Kentsis, Alex A; Shukla, Neerav N; Musinsky, Jacob J; Roberts, Stephen S; Kung, Andrew L AL; Robson, Mark M; Kushner, Brian H BH; Meyers, Paul P; Offit, Kenneth K

Publication Date: 2017-11

Variant appearance in text: BRCA2: L3000*

PubMed Link: 28655807

Variant Present in the following documents:

• Main text

View BVdb publication page

Novel mutations target distinct subgroups of medulloblastoma.

Nature

Robinson, Giles G; Parker, Matthew M; Kranenburg, Tanya A TA; Lu, Charles C; Chen, Xiang X; Ding, Li L; Phoenix, Timothy N TN; Hedlund, Erin E; Wei, Lei L; Zhu, Xiaoyan X; Chalhoub, Nader N; Baker, Suzanne J SJ; Huether, Robert R; Kriwacki, Richard R; Curley, Natasha N; Thiruvenkatam, Radhika R; Wang, Jianmin J; Wu, Gang G; Rusch, Michael M; Hong, Xin X; Becksfort, Jared J; Gupta, Pankaj P; Ma, Jing J; Easton, John J; Vadodaria, Bhavin B; Onar-Thomas, Arzu A; Lin, Tong T; Li, Shaoyi S; Pounds, Stanley S; Paugh, Steven S; Zhao, David D; Kawauchi, Daisuke D; Roussel, Martine F MF; Finkelstein, David D; Ellison, David W DW; Lau, Ching C CC; Bouffet, Eric E; Hassall, Tim T; Gururangan, Sridharan S; Cohn, Richard R; Fulton, Robert S RS; Fulton, Lucinda L LL; Dooling, David J DJ; Ochoa, Kerri K; Gajjar, Amar A; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Zhang, Jinghui J; Gilbertson, Richard J RJ

Publication Date: 2012-08-02

Variant appearance in text: BRCA2: L3000*; rs80359151

PubMed Link: 22722829

Variant Present in the following documents:

• NIHMS374717-supplement-table_8.xlsx, sheet 1

View BVdb publication page