Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.

ABSTRACT: Demographics for breast cancers vary widely among nations. The frequency of germline mutations in breast cancers, which reflects the hereditary cases, has not been investigated adequately and accurately in highly-consanguineous Pakistani population. In the present discovery case series, germ-line mutations in twenty-seven breast cancer candidate genes were investigated in eighty-four sporadic breast cancer patients along with the clinical correlations. The germ-line variants were also assessed in two healthy gender-matched controls. The clinico-pathological features were evaluated by descriptive analysis and Pearson χ² test (with significant p-value <0.05). The most frequent parameters associated with hereditary cancer cases are age and ethnicity. Therefore, the analyses were st

SUBMITTER: Ajaz S 

PROVIDER: S-EPMC8959921 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature