Publications:

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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: D245N

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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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: BRCA1: 733G>A; D245N

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_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: 733G>A; Asp245Asn

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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Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Bmc Cancer

Eoh, Kyung Jin KJ; Kim, Hye Min HM; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2020-03-12

Variant appearance in text: BRCA1: 733G>A

PubMed Link: 32164585

Variant Present in the following documents:

• 12885_2020_6693_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Profile and BRCA-1 Promoter Methylation Status in BRCA Mutated Ovarian Cancer: New Insights in Predictive Biomarkers of Olaparib Response.

Frontiers In Oncology

Franzese, Elisena E; Centonze, Sara S; Diana, Anna A; Lombardi, Angela A; Carlino, Francesca F; Guerrera, Luigi Pio LP; De Vita, Ferdinando F; Caraglia, Michele M; Pignata, Sandro S; Ciardiello, Fortunato F; Orditura, Michele M

Publication Date: 2019

Variant appearance in text: BRCA1: 733G>A

PubMed Link: 31850198

Variant Present in the following documents:

• Main text
• fonc-09-01289.pdf

View BVdb publication page

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.

Plos One

Ow, Samuel Guan Wei SGW; Ong, Pei Yi PY; Lee, Soo-Chin SC

Publication Date: 2019

Variant appearance in text: BRCA1: 733G>A

PubMed Link: 30875412

Variant Present in the following documents:

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: D245N

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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