title: A high frequency of PALB2 mutations in Jamaican patients with breast cancer.
abstract: Jamaica is an island nation with one of the highest breast cancer incidence rates in the Caribbean (40/100,000 per year). The contribution of cancer susceptibility gene mutations to the burden of breast cancer in Jamaica has not yet been explored. We sought to determine the prevalence of germline mutations in BRCA1, BRCA2, and PALB2 in 179 unselected Jamaican women with breast cancer.
  
  
  
  We sequenced the entire coding regions of BRCA1, BRCA2, and PALB2 for all the study subjects.
  
  
  
  Overall, 8 of 179 patients (4.5%) had a mutation in one of the three genes: one in BRCA1, two in BRCA2, and five in PALB2.
  
  
  
  These data suggest that in addition to BRCA1 and BRCA2, PALB2 should be included in genetic testing for breast cancer patients in Jamaica.
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.|Ontario Institute for Cancer Research, Toronto, ON, Canada.|Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.|Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
authors.forename: Jordan
authors.initials: J
authors.lastname: Lerner-Ellis
authors.affiliation: Sylvester Cancer Center, University of Miami, Miami, FL, USA.
authors.forename: Talia
authors.initials: T
authors.lastname: Donenberg
authors.affiliation: Women's College Research Institute, Women's College Hospital, 76 Grenville St.Room 6421, Toronto, ON, M5S 1B2, Canada.|Institute of Medical Science, University of Toronto, Toronto, Canada.
authors.forename: Humayun
authors.initials: H
authors.lastname: Ahmed
authors.affiliation: Sylvester Cancer Center, University of Miami, Miami, FL, USA.
authors.forename: Sophia
authors.initials: S
authors.lastname: George
authors.affiliation: University of the West Indies, Mona, Jamaica.
authors.forename: Gilian
authors.initials: G
authors.lastname: Wharfe
authors.affiliation: University of the West Indies, Mona, Jamaica.
authors.forename: Sheray
authors.initials: S
authors.lastname: Chin
authors.affiliation: University of the West Indies, Mona, Jamaica.
authors.forename: Dwight
authors.initials: D
authors.lastname: Lowe
authors.affiliation: Women's College Research Institute, Women's College Hospital, 76 Grenville St.Room 6421, Toronto, ON, M5S 1B2, Canada.
authors.forename: Robert
authors.initials: R
authors.lastname: Royer
authors.affiliation: Women's College Research Institute, Women's College Hospital, 76 Grenville St.Room 6421, Toronto, ON, M5S 1B2, Canada.
authors.forename: Shiyu
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Women's College Research Institute, Women's College Hospital, 76 Grenville St.Room 6421, Toronto, ON, M5S 1B2, Canada.|Institute of Medical Science, University of Toronto, Toronto, Canada.|Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.
authors.forename: Steven
authors.initials: S
authors.lastname: Narod
authors.affiliation: Sylvester Cancer Center, University of Miami, Miami, FL, USA.
authors.forename: Judith
authors.initials: J
authors.lastname: Hurley
authors.affiliation: Women's College Research Institute, Women's College Hospital, 76 Grenville St.Room 6421, Toronto, ON, M5S 1B2, Canada. Mohammad.akbari@utoronto.ca.|Institute of Medical Science, University of Toronto, Toronto, Canada. Mohammad.akbari@utoronto.ca.|Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. Mohammad.akbari@utoronto.ca.
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Akbari
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005091:Exons; D000076164:Fanconi Anemia Complementation Group N Protein / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005838:Genotype; D006801:Humans; D007563:Jamaica / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D015995:Prevalence
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein
keywords: BRCA1; BRCA2; Breast cancer; Hereditary; Jamaica; PALB2