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: BRCA2: 2590C>T; Gln864Ter; rs1060502414

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: BRCA2: 2590C>T; Gln864Ter

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: BRCA2: 2590C>T; Gln864*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s010.xlsx, sheet 2

View BVdb publication page

---

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Biomedicines

Chiang, Ying-Cheng YC; Lin, Po-Han PH; Lu, Tzu-Pin TP; Kuo, Kuan-Ting KT; Tai, Yi-Jou YJ; Hsu, Heng-Cheng HC; Wu, Chia-Ying CY; Lee, Chia-Yi CY; Shen, Hung H; Chen, Chi-An CA; Cheng, Wen-Fang WF

Publication Date: 2021-10-03

Variant appearance in text: BRCA2: Q864X; rs1060502414

PubMed Link: 34680501

Variant Present in the following documents:

• Main text
• biomedicines-09-01384.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: BRCA2: 2590C>T; Q864X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

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: 2590C>T; Gln864X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Nucleic Acids Research

Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY

Publication Date: 2019-11-18

Variant appearance in text: BRCA2: 2590C>T

PubMed Link: 31586400

Variant Present in the following documents:

• Main text
• gkz780.pdf

View BVdb publication page

---

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Czarny, Katarzyna K; Paczkowska, Katarzyna K; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2017-03-09

Variant appearance in text: BRCA2: 2590C>T

PubMed Link: 28279176

Variant Present in the following documents:

• 12920_2017_Article_251.pdf

View BVdb publication page

---