Publications:

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Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA2: 8827C>T

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 8827C>T; Gln2943*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s005.xlsx, sheet 2

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Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.

Genes

Zhou, Yan Y; Nelson, Andrew C AC; He, Yuyu Y; Munro, Sarah A SA; Song, Kyu Young KY; Domingo-Musibay, Evidio E; Giubellino, Alessio A

Publication Date: 2021-12-22

Variant appearance in text: BRCA2: Q2943X

PubMed Link: 35052351

Variant Present in the following documents:

• Main text
• genes-13-00010.pdf

View BVdb publication page

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Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.

Genes

Zhou, Yan Y; Nelson, Andrew C AC; He, Yuyu Y; Munro, Sarah A SA; Song, Kyu Young KY; Domingo-Musibay, Evidio E; Giubellino, Alessio A

Publication Date: 2021-12-22

Variant appearance in text: BRCA2: Q2943X

PubMed Link: 35052351

Variant Present in the following documents:

• Main text
• genes-13-00010.pdf

View BVdb publication page

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Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics

Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R

Publication Date: 2021-07-20

Variant appearance in text: BRCA2: 8827C>T; Gln2943*

PubMed Link: 34284772

Variant Present in the following documents:

• 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1

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BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.

Molecular Genetics & Genomic Medicine

Wang, Jiangfen J; Qin, Jiayue J; Xi, Chunfang C; Zhang, Yafen Y

Publication Date: 2020-09

Variant appearance in text: BRCA2: 8827C>T; Gln2943*

PubMed Link: 32686918

Variant Present in the following documents:

• Main text
• MGG3-8-e1411.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: 8827C>T; Gln2943X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liang, Yi Y; Yang, Xuexi X; Li, Hong H; Zhu, Anna A; Guo, Zhiwei Z; Li, Ming M

Publication Date: 2018-04-23

Variant appearance in text: BRCA2: 8827C>T; Gln2943Ter

PubMed Link: 29681614

Variant Present in the following documents:

• Main text
• medscimonit-24-2465.pdf

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