Publications:

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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: BRCA1: 3678C>G; Phe1226Leu

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

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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: BRCA1: F1226L

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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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: BRCA1: 3678C>G; Phe1226Leu

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: BRCA1: F1226L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRCA1: F1226L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

Italian Journal Of Pediatrics

Solomon, Ponnumony John PJ; Margaret, Priya P; Rajendran, Ramya R; Ramalingam, Revathy R; Menezes, Godfred A GA; Shirley, Alph S AS; Lee, Seung Jun SJ; Seong, Moon-Woo MW; Park, Sung Sup SS; Seol, Dodam D; Seo, Soo Hyun SH

Publication Date: 2015-05-08

Variant appearance in text: BRCA1: 3678C>G

PubMed Link: 25953249

Variant Present in the following documents:

• Main text
• 13052_2015_Article_142.pdf

View BVdb publication page

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Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

Bmc Medical Genetics

Saxena, Sunita S; Chakraborty, Anurupa A; Kaushal, Mishi M; Kotwal, Sanjeev S; Bhatanager, Dinesh D; Mohil, Ravindar S RS; Chintamani, Chintamani C; Aggarwal, Anil K AK; Sharma, Veena K VK; Sharma, Prakash C PC; Lenoir, Gilbert G; Goldgar, David E DE; Szabo, Csilla I CI

Publication Date: 2006-10-04

Variant appearance in text: BRCA1: Phe1226Leu

PubMed Link: 17018160

Variant Present in the following documents:

• Main text
• 1471-2350-7-75.pdf

View BVdb publication page

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