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: K1690Q

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences

Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2021

Variant appearance in text: BRCA2: 5068A>C

PubMed Link: 34235180

Variant Present in the following documents:

• fmolb-08-685174.pdf

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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: 5068A>C; Lys1690Gln

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: K1690Q

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Preserved genetic diversity in organoids cultured from biopsies of human colorectal cancer metastases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Weeber, Fleur F; van de Wetering, Marc M; Hoogstraat, Marlous M; Dijkstra, Krijn K KK; Krijgsman, Oscar O; Kuilman, Thomas T; Gadellaa-van Hooijdonk, Christa G M CG; van der Velden, Daphne L DL; Peeper, Daniel S DS; Cuppen, Edwin P J G EP; Vries, Robert G RG; Clevers, Hans H; Voest, Emile E EE

Publication Date: 2015-10-27

Variant appearance in text: BRCA2: K1690Q

PubMed Link: 26460009

Variant Present in the following documents:

• Main text

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