title: PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations.
abstract: PALB2 is a recently discovered breast cancer susceptibility gene, and mutations in the gene have been demonstrated to confer about twofold higher risk of breast cancer. Truncating mutations in PALB2 gene have been identified in varied populations. However, PALB2's significance to breast cancer has not been investigated in the Korean population. In this study, we evaluated the frequency of PALB2 1592delT and 229delT mutations in 300 Korean breast cancer patients diagnosed with either familial or early-onset breast cancer. All patients were confirmed negative for BRCA1 and BRCA2 mutations. Neither 1592delT nor 229delT mutations was found in any of the study cohort. Our results imply that these mutations are absent or rare in Korean patients who are negative for BRCA1 and BRCA2 mutations. We found no evidence to recommend screening for these mutations in the Korean population. However, PALB2 mutations have been demonstrated infrequent and inhomogeneous across investigated populations. Thus, screening the whole PALB2 gene for novel mutations is required to elucidate its significance in predisposition to breast cancer in Korean women.
authors.forename: Jin Ho
authors.initials: JH
authors.lastname: Kim
authors.forename: Doo Ho
authors.initials: DH
authors.lastname: Choi
authors.forename: Dae Yeon
authors.initials: DY
authors.lastname: Cho
authors.forename: Sei Hyun
authors.initials: SH
authors.lastname: Ahn
authors.forename: Byung Ho
authors.initials: BH
authors.lastname: Son
authors.forename: Bruce G
authors.initials: BG
authors.lastname: Haffty
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics; D004252:DNA Mutational Analysis; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008875:Middle Aged; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics; D019683:Penetrance; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins