Low Prevalence of CHEK2 Gene Mutations in Multiethnic Cohorts of Breast Cancer Patients in Malaysia
作者： Suriati Mohamad , Nurismah Md Isa , Rohaizak Muhammad , Nor Aina Emran , Nor Mayah Kitan
DOI: 10.1371/JOURNAL.PONE.0117104
关键词:
摘要: CHEK2 is a protein kinase that involved in cell-cycle checkpoint control after DNA damage. Germline mutations gene have been associated with increase breast cancer risk. The aim of this study to identify the germline among high-risk patients and its contribution multiethnic population Malaysia. We screened entire coding region on 59 who tested negative for BRCA1/2 from UKM Medical Centre (UKMMC), Hospital Kuala Lumpur (HKL) Putrajaya (HPJ). Sequence variants identified were further case-control cohorts consisting 878 unselected invasive (180 Malays, 526 Chinese 172 Indian) 270 healthy individuals (90 90 Indian). By screening gene, two missense mutations, c.480A>G (p.I160M) c.538C>T (p.R180C) unrelated (3.4%). Further these unveiled variant p.I160M 2/172 (1.1%) Indian cases 1/90 control, p.R180C 2/526 (0.38%) 0/90 2/180 Malay control. results suggest are rare may play minor contributing role carcinogenesis Malaysian population.
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