Publications:

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: -175C>T; rs55880202

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2

View BVdb publication page

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Human Mutation

Burke, Leslie J LJ; Sevcik, Jan J; Gambino, Gaetana G; Tudini, Emma E; Mucaki, Eliseos J EJ; Shirley, Ben C BC; Whiley, Phillip P; Parsons, Michael T MT; De Leeneer, Kim K; Gutiérrez-Enríquez, Sara S; Santamariña, Marta M; Caputo, Sandrine M SM; Santana Dos Santos, Elizabeth E; Soukupova, Jana J; Janatova, Marketa M; Zemankova, Petra P; Lhotova, Klara K; Stolarova, Lenka L; Borecka, Mariana M; Moles-Fernández, Alejandro A; Manoukian, Siranoush S; Bonanni, Bernardo B; , ; Edwards, Stacey L SL; Blok, Marinus J MJ; van Overeem Hansen, Thomas T; Rossing, Maria M; Diez, Orland O; Vega, Ana A; Claes, Kathleen B M KBM; Goldgar, David E DE; Rouleau, Etienne E; Radice, Paolo P; Peterlongo, Paolo P; Rogan, Peter K PK; Caligo, Maria M; Spurdle, Amanda B AB; Brown, Melissa A MA

Publication Date: 2018-12

Variant appearance in text: rs55880202

PubMed Link: 30204945

Variant Present in the following documents:

• Main text
• HUMU-39-2025-s001.pdf
• HUMU-39-2025.pdf

View BVdb publication page