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Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer.


ABSTRACT: Up to 30% of all breast cancer cases may be inherited and up to 85% of those may be due to segregation of susceptibility genes with low and moderate risk [odds ratios (OR)???3] for (mostly peri- and post-menopausal) breast cancer. The majority of low/moderate-risk genes, particularly those with minor allele frequencies (MAF) of?interaction???0.03). We found significant upregulation of ERCC6 (p?=?7.95 × 10-6) and ERCC8 (p?=?4.67 × 10-6) in breast cancer and similar frequencies of ERCC6 (1.8%) and ERCC8 (0.3%) mutations in breast tumors to known breast cancer susceptibility genes such as BLM (1.9%) and LSP1 (0.3%). Our integrative genomics approach suggests that ERCC6 may be a previously unreported low- to moderate-risk breast cancer susceptibility gene, which may also interact with ERCC8.

SUBMITTER: Moslehi R 

PROVIDER: S-EPMC7718875 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer.

Moslehi Roxana R   Tsao Hui-Shien HS   Zeinomar Nur N   Stagnar Cristy C   Fitzpatrick Sean S   Dzutsev Amiran A  

Scientific reports 20201204 1


Up to 30% of all breast cancer cases may be inherited and up to 85% of those may be due to segregation of susceptibility genes with low and moderate risk [odds ratios (OR) ≤ 3] for (mostly peri- and post-menopausal) breast cancer. The majority of low/moderate-risk genes, particularly those with minor allele frequencies (MAF) of < 30%, have not been identified and/or validated due to limitations of conventional association testing approaches, which include the agnostic nature of Genome Wide Assoc  ...[more]

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