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: 4228G>T; Glu1410Ter; rs397509152

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: 4228G>T; Glu1410Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 4228G>T; Glu1410Ter; rs397509152

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Proteomic Resistance Biomarkers for PI3K Inhibitor in Triple Negative Breast Cancer Patient-Derived Xenograft Models.

Cancers

Guo, Zhanfang Z; Primeau, Tina T; Luo, Jingqin J; Zhang, Cynthia C; Sun, Hua H; Hoog, Jeremy J; Gao, Feng F; Huang, Shixia S; Edwards, Dean P DP; Davies, Sherri R SR; Aft, Rebecca R; Ding, Li L; Ellis, Matthew J MJ; Li, Shunqiang S; Ma, Cynthia X CX

Publication Date: 2020-12-21

Variant appearance in text: BRCA1: E1410*

PubMed Link: 33371187

Variant Present in the following documents:

• Main text
• cancers-12-03857.pdf

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: BRCA1: 4228G>T; Glu1410X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Mass Spectrometry-Based Proteomics Reveals Potential Roles of NEK9 and MAP2K4 in Resistance to PI3K Inhibition in Triple-Negative Breast Cancers.

Cancer Research

Mundt, Filip F; Rajput, Sandeep S; Li, Shunqiang S; Ruggles, Kelly V KV; Mooradian, Arshag D AD; Mertins, Philipp P; Gillette, Michael A MA; Krug, Karsten K; Guo, Zhanfang Z; Hoog, Jeremy J; Erdmann-Gilmore, Petra P; Primeau, Tina T; Huang, Shixia S; Edwards, Dean P DP; Wang, Xiaowei X; Wang, Xuya X; Kawaler, Emily E; Mani, D R DR; Clauser, Karl R KR; Gao, Feng F; Luo, Jingqin J; Davies, Sherri R SR; Johnson, Gary L GL; Huang, Kuan-Lin KL; Yoon, Christopher J CJ; Ding, Li L; Fenyö, David D; Ellis, Matthew J MJ; Townsend, R Reid RR; Held, Jason M JM; Carr, Steven A SA; Ma, Cynthia X CX

Publication Date: 2018-05-15

Variant appearance in text: BRCA1: E1410*

PubMed Link: 29472518

Variant Present in the following documents:

• Main text

View BVdb publication page

---