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: 7805+3A>C; rs81002810

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 7805+3A>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: 7805+3A>C

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: 7805+3A>C

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s011.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 1

View BVdb publication page

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Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Genome Medicine

Bylstra, Yasmin Y; Lim, Weng Khong WK; Kam, Sylvia S; Tham, Koei Wan KW; Wu, R Ryanne RR; Teo, Jing Xian JX; Davila, Sonia S; Kuan, Jyn Ling JL; Chan, Sock Hoai SH; Bertin, Nicolas N; Yang, Cheng Xi CX; Rozen, Steve S; Teh, Bin Tean BT; Yeo, Khung Keong KK; Cook, Stuart Alexander SA; Jamuar, Saumya Shekhar SS; Ginsburg, Geoffrey S GS; Orlando, Lori A LA; Tan, Patrick P

Publication Date: 2021-01-07

Variant appearance in text: BRCA2: 7805+3A>C

PubMed Link: 33413596

Variant Present in the following documents:

• Main text
• 13073_2020_Article_819.pdf

View BVdb publication page

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Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.

Frontiers In Genetics

Fraile-Bethencourt, Eugenia E; Valenzuela-Palomo, Alberto A; Díez-Gómez, Beatriz B; Caloca, María José MJ; Gómez-Barrero, Susana S; Velasco, Eladio A EA

Publication Date: 2019

Variant appearance in text: BRCA2: 7805+3A>C

PubMed Link: 31191615

Variant Present in the following documents:

• Main text
• fgene-10-00503.pdf

View BVdb publication page

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Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Frontiers In Genetics

Fraile-Bethencourt, Eugenia E; Valenzuela-Palomo, Alberto A; Díez-Gómez, Beatriz B; Acedo, Alberto A; Velasco, Eladio A EA

Publication Date: 2018

Variant appearance in text: BRCA2: 7805+3A>C

PubMed Link: 29881398

Variant Present in the following documents:

• Main text
• fgene-09-00188.pdf

View BVdb publication page

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