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: 6137C>A

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: 6137C>A; Ser2046*

PubMed Link: 36385461

Variant Present in the following documents:

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

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 6137C>A

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM10_ESM.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: 6137C>A; Ser2046X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Implications of High Rates of Metastatic Prostate Cancer in BRCA2 Mutation Carriers.

The Prostate

Gleicher, Stephanie S; Kauffman, Eric C EC; Kotula, Leszek L; Bratslavsky, Gennady G; Vourganti, Srinivas S

Publication Date: 2016-09

Variant appearance in text: BRCA2: 6137C>A

PubMed Link: 27225637

Variant Present in the following documents:

• Main text

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A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Cancer

Pal, Tuya T; Bonner, Devon D; Cragun, Deborah D; Monteiro, Alvaro N A AN; Phelan, Catherine C; Servais, Lily L; Kim, Jongphil J; Narod, Steven A SA; Akbari, Mohammad R MR; Vadaparampil, Susan T ST

Publication Date: 2015-12-01

Variant appearance in text: BRCA2: 6137C>A

PubMed Link: 26287763

Variant Present in the following documents:

• Main text

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Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic.

Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada

Walker, Richard R; Louis, Alyssa A; Berlin, Alejandro A; Horsburgh, Sheri S; Bristow, Robert G RG; Trachtenberg, John J

Publication Date: 2014-11

Variant appearance in text: BRCA2: 6137C>A

PubMed Link: 25485004

Variant Present in the following documents:

• Main text

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