Publications:

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: E1245K

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: BRCA2: 3733G>A; E1245K

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications

Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M

Publication Date: 2021-03-04

Variant appearance in text: BRCA2: Glu1245Lys

PubMed Link: 33664264

Variant Present in the following documents:

• 41467_2021_21576_MOESM1_ESM.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: 3733G>A; Glu1245Lys

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: E1245K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page