title: CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia.
abstract: A truncating mutation (1100delC) in the cell cycle checkpoint kinase-2 gene, CHEK2, has been identified as a risk factor for familial and sporadic breast cancer in some Northern and Western European populations. However, the prevalence of CHEK2*1100delC in breast cancer appears to be population dependent. We analysed the prevalence of CHEK2*1100delC in 668 breast cancer cases, of which 542 were invasive breast cancers, from a hospital-based cohort of breast cancer patients from Kuala Lumpur, Malaysia. The variant was not found in any patients in this cohort, suggesting that CHEK2*1100delC is rare in our population, and unlikely to contribute significantly to risk to breast cancer among the Malay, Chinese and Indian ethnic groups in Malaysia. This suggests that screening for this allele should not be routinely conducted in Malaysia.
authors.affiliation: Cancer Research Initiatives Foundation, 2nd Floor Outpatient Centre, Sime Darby Medical Centre, 47500 Subang Jaya, Malaysia.
authors.forename: Eswary
authors.initials: E
authors.lastname: Thirthagiri
authors.forename: Leng San
authors.initials: LS
authors.lastname: Cheong
authors.forename: Cheng Har
authors.initials: CH
authors.lastname: Yip
authors.forename: Soo-Hwang
authors.initials: SH
authors.lastname: Teo
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008296:Malaysia; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases