Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA2: 6685G>T; E2229*; rs730881548

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 6685G>T; Glu2229Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 6685G>T

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159.pdf
• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s007.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s009.xlsx, sheet 1

View BVdb publication page

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Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.

Scientific Reports

Abdel-Razeq, Hikmat H; Abujamous, Lama L; Abunasser, Mahmoud M; Edaily, Sara S; Bater, Rayan R

Publication Date: 2021-07-21

Variant appearance in text: BRCA2: 6685G>T; Glu2229Ter

PubMed Link: 34290354

Variant Present in the following documents:

• Main text
• 41598_2021_Article_94403.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA2: 6685G>T; E2229X; rs730881548

PubMed Link: 34253785

Variant Present in the following documents:

• Main text
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_Article_93715.pdf
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Patterns and Prevalence of Germline BRCA1 and BRCA2 Mutations among High-Risk Breast Cancer Patients in Jordan: A Study of 500 Patients.

Journal Of Oncology

Abdel-Razeq, Hikmat H; Abujamous, Lama L; Jadaan, Dima D

Publication Date: 2020

Variant appearance in text: BRCA2: 6685G>T; Glu2229Ter; rs730881548

PubMed Link: 32733560

Variant Present in the following documents:

• Main text
• JO2020-8362179.pdf

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: 6685G>T; Glu2229X

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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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: BRCA2: E2229*

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA2: 6685G>T

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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BRCA mutation screening and patterns among high-risk Lebanese subjects.

Hereditary Cancer In Clinical Practice

Farra, Chantal C; Dagher, Christelle C; Badra, Rebecca R; Hammoud, Miza Salim MS; Alameddine, Raafat R; Awwad, Johnny J; Seoud, Muhieddine M; Abbas, Jaber J; Boulos, Fouad F; El Saghir, Nagi N; Mukherji, Deborah D

Publication Date: 2019

Variant appearance in text: BRCA2: 6685G>T

PubMed Link: 30675319

Variant Present in the following documents:

• Main text
• 13053_2019_Article_105.pdf

View BVdb publication page

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Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.

Bmc Cancer

Abdel-Razeq, Hikmat H; Al-Omari, Amal A; Zahran, Farah F; Arun, Banu B

Publication Date: 2018-02-06

Variant appearance in text: BRCA2: E2229X

PubMed Link: 29409476

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4079.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 6685G>T; Glu2229Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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