Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: BRCA2: G106R

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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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: G106R

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Cancer Research

Tubeuf, Hélène H; Caputo, Sandrine M SM; Sullivan, Teresa T; Rondeaux, Julie J; Krieger, Sophie S; Caux-Moncoutier, Virginie V; Hauchard, Julie J; Castelain, Gaia G; Fiévet, Alice A; Meulemans, Laëtitia L; Révillion, Françoise F; Léoné, Mélanie M; Boutry-Kryza, Nadia N; Delnatte, Capucine C; Guillaud-Bataille, Marine M; Cleveland, Linda L; Reid, Susan S; Southon, Eileen E; Soukarieh, Omar O; Drouet, Aurélie A; Di Giacomo, Daniela D; Vezain, Myriam M; Bonnet-Dorion, Françoise F; Bourdon, Violaine V; Larbre, Hélène H; Muller, Danièle D; Pujol, Pascal P; Vaz, Fátima F; Audebert-Bellanger, Séverine S; Colas, Chrystelle C; Venat-Bouvet, Laurence L; Solano, Angela R AR; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C; Frebourg, Thierry T; Gaildrat, Pascaline P; Sharan, Shyam K SK; Martins, Alexandra A

Publication Date: 2020-09-01

Variant appearance in text: BRCA2: 316G>C; Gly106Arg

PubMed Link: 32641407

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 316G>C; Gly106Arg

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: G106R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One

Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K

Publication Date: 2016

Variant appearance in text: BRCA2: G106R

PubMed Link: 27073839

Variant Present in the following documents:

• pone.0152725.s003.xlsx, sheet 1

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA2: G106R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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