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: V220L

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Spatiotemporal dynamics of clonal selection and diversification in normal endometrial epithelium.

Nature Communications

Yamaguchi, Manako M; Nakaoka, Hirofumi H; Suda, Kazuaki K; Yoshihara, Kosuke K; Ishiguro, Tatsuya T; Yachida, Nozomi N; Saito, Kyota K; Ueda, Haruka H; Sugino, Kentaro K; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Revathidevi, Sundaramoorthy S; Motoyama, Teiichi T; Tainaka, Kazuki K; Verhaak, Roel G W RGW; Inoue, Ituro I; Enomoto, Takayuki T

Publication Date: 2022-02-17

Variant appearance in text: BRCA2: Val220Leu

PubMed Link: 35177608

Variant Present in the following documents:

• 41467_2022_28568_MOESM2_ESM.pdf

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: BRCA2: 658G>T; V220L

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: 658G>T; Val220Leu

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: V220L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page