title: Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.
abstract: BACKGROUND
  The partner and localizer of breast cancer 2 (PALB2) is responsible for facilitating BRCA2-mediated DNA repair by serving as a bridging molecule, acting as the physical and functional link between the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) proteins. Truncating mutations in the PALB2 gene are rare but are thought to be associated with increased risks of developing breast cancer in various populations.
  
  
  METHODS
  We evaluated the contribution of PALB2 germline mutations in 122 Asian women with breast cancer, all of whom had significant family history of breast and other cancers. Further screening for nine PALB2 mutations was conducted in 874 Malaysian and 532 Singaporean breast cancer patients, and in 1342 unaffected Malaysian and 541 unaffected Singaporean women.
  
  
  RESULTS
  By analyzing the entire coding region of PALB2, we found two novel truncating mutations and ten missense mutations in families tested negative for BRCA1/2-mutations. One additional novel truncating PALB2 mutation was identified in one patient through genotyping analysis. Our results indicate a low prevalence of deleterious PALB2 mutations and a specific mutation profile within the Malaysian and Singaporean populations.
authors: Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia.
authors: Sze Yee
authors: SY
authors: Phuah
authors: Sheau Yee
authors: SY
authors: Lee
authors: Peter
authors: P
authors: Kang
authors: In Nee
authors: IN
authors: Kang
authors: Sook-Yee
authors: SY
authors: Yoon
authors: Meow Keong
authors: MK
authors: Thong
authors: Mikael
authors: M
authors: Hartman
authors: Jen-Hwei
authors: JH
authors: Sng
authors: Cheng Har
authors: CH
authors: Yip
authors: Nur Aishah Mohd
authors: NA
authors: Taib
authors: Soo-Hwang
authors: SH
authors: Teo
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D012846:Singapore; 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
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