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: BRCA1: 5377A>T; Lys1793Ter; rs397509274

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: BRCA1: 5377A>T; Lys1793Ter

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: BRCA1: 5377A>T; Lys1793*; rs397509274

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s010.xlsx, sheet 6
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 1

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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: BRCA1: 5377A>T

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-3-imr-10.1177_03000605211070757.pdf

View BVdb publication page

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BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research

Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S

Publication Date: 2022-01

Variant appearance in text: BRCA1: 5377A>T

PubMed Link: 35000471

Variant Present in the following documents:

• sj-pdf-3-imr-10.1177_03000605211070757.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: BRCA1: 5377A>T; Lys1793Ter; rs397509274

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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: 5377A>T; Lys1793X

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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Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Muhammad, Noor N; Naeemi, Humaira H; Khan, Faiz Ali FA; Hassan, Mariam M; Faisal, Saima S; Gull, Sidra S; Amin, Asim A; Loya, Asif A; Hamann, Ute U

Publication Date: 2019

Variant appearance in text: BRCA1: 5377A>T; K1793X

PubMed Link: 31528241

Variant Present in the following documents:

• Main text
• 13053_2019_Article_125.pdf

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5377A>T; K1793*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age.

Radiology And Oncology

Cvelbar, Mirjam M; Hocevar, Marko M; Novakovic, Srdjan S; Stegel, Vida V; Perhavec, Andraz A; Krajc, Mateja M

Publication Date: 2017-06

Variant appearance in text: BRCA1: 5377A>T; Lys1793*

PubMed Link: 28740454

Variant Present in the following documents:

• Main text
• raon-51-187.pdf

View BVdb publication page

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Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

International Journal Of Oncology

Novaković, Srdjan S; Milatović, Maša M; Cerkovnik, Petra P; Stegel, Vida V; Krajc, Mateja M; Hočevar, Marko M; Zgajnar, Janez J; Vakselj, Aleš A

Publication Date: 2012-11

Variant appearance in text: BRCA1: 5377A>T; Lys1793*

PubMed Link: 22923021

Variant Present in the following documents:

• Main text
• ijo-41-05-1619.pdf

View BVdb publication page

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The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Bmc Medical Genetics

Stegel, Vida V; Krajc, Mateja M; Zgajnar, Janez J; Teugels, Erik E; De Grève, Jacques J; Hočevar, Marko M; Novaković, Srdjan S

Publication Date: 2011-01-14

Variant appearance in text: BRCA1: 5377A>T; K1793X

PubMed Link: 21232165

Variant Present in the following documents:

• Main text
• 1471-2350-12-9.pdf

View BVdb publication page

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