rs10120432 - PTCH1 - ERCC6L2-AS1

Magnitude 2.2 · 1 study on file

Reported associations

• Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions. - Nature genetics (2025) · Jia G, Chen Z, Ping J, Cai Q, Tao R, Li C, Bauer JA, Xie Y, Ambs S, Barnard ME, Chen Y, Choi JY, Gao YT, Garcia-Closas M, Gu J, Hu JJ, Iwasaki M, John EM, Kweon SS, Li CI, Matsuda K, Matsuo K, Nathanson KL, Nemesure B, Olopade OI, Pal T, Park SK, Park B, Press MF, Sanderson M, Sandler DP, Shen CY, Troester MA, Yao S, Zheng Y, Ahearn T, Brewster AM, Falusi A, Hennis AJM, Ito H, Kubo M, Lee ES, Makumbi T, Ndom P, Noh DY, O'Brien KM, Ojengbede O, Olshan AF, Park MH, Reid S, Yamaji T, Zirpoli G, Butler EN, Huang M, Low SK, Obafunwa J, Weinberg CR, Zhang H, Zhao H, Cote ML, Ambrosone CB, Huo D, Li B, Kang D, Palmer JR, Shu XO, Haiman CA, Guo X, Long J, Zheng W · PubMed 39753771

  Genome-wide association studies have identified approximately 200 genetic risk loci for breast cancer, but the causal variants and target genes are mostly unknown. We sought to fine-map all known breast cancer risk loci using genome-wide association study data from 172,737 female breast cancer cases and 242,009 controls of African, Asian and European ancestry. We identified 332 independent association signals for breast cancer risk, including 131 signals not reported previously, and for 50 of them, we narrowed the credible causal variants down to a single variant. Analyses integrating functional genomics data identified 195 putative susceptibility genes, enriched in PI3K/AKT, TNF/NF-κB, p53 and Wnt/β-catenin pathways. Single-cell RNA sequencing or in vitro experiment data provided additi

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