Publications:

---

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: 4997dup; Tyr1666Ter; rs876658947

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

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: 4997dup; Tyr1666Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: 4997dup; Tyr1666*

PubMed Link: 36385461

Variant Present in the following documents:

• 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
• IJC-152-1159-s010.xlsx, sheet 4

View BVdb publication page

---

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer

Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q

Publication Date: 2022-08-02

Variant appearance in text: BRCA1: 4997dup

PubMed Link: 35918668

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9943.pdf

View BVdb publication page

---

BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes

Le, Trong-Nhan N TN; Tran, Van-Khanh VK; Nguyen, Thu-Thuy TT; Vo, Nam S NS; Hoang, Tham H TH; Vo, Hoang-Long HL; Nguyen, Thanh-Hai T TT; Nguyen, Phuoc-Dung PD; Nguyen, Viet-Tien VT; Ta, Thanh-Van TV; Tran, Huy-Thinh HT

Publication Date: 2022-01-29

Variant appearance in text: BRCA1: 4997dupA; Tyr1666Ter

PubMed Link: 35205313

Variant Present in the following documents:

• Main text
• genes-13-00268.pdf

View BVdb publication page

---

Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.

Frontiers In Oncology

Tran, Van Thuan VT; Nguyen, Sao Trung ST; Pham, Xuan Dung XD; Phan, Thanh Hai TH; Nguyen, Van Chu VC; Nguyen, Huu Thinh HT; Nguyen, Huu Phuc HP; Doan, Phuong Thao Thi PTT; Le, Tuan Anh TA; Nguyen, Bao Toan BT; Jasmine, Thanh Xuan TX; Nguyen, Duy Sinh DS; Nguyen, Hong-Dang Luu HL; Nguyen, Ngoc Mai NM; Do, Duy Xuan DX; Tran, Vu Uyen VU; Nguyen, Hue Hanh Thi HHT; Le, Minh Phong MP; Nguyen, Yen Nhi YN; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Tang, Hung Sang HS; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2021

Variant appearance in text: BRCA1: 4997dup; Tyr1666Ter

PubMed Link: 35070997

Variant Present in the following documents:

• Main text
• fonc-11-789659.pdf

View BVdb publication page

---

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: 4997dupA; Tyr1666Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

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: BRCA1: 4997dupA

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---