title: BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
abstract: The contribution of mutations in BRCA1 and BRCA2 genes to the burden of breast cancer in Costa Rica has not been studied. We estimated the frequency of BRCA mutations among 111 Costa Rican women with breast cancer and a family history of breast cancer. These women were mainly from the metropolitan area of San José. A detailed family history was obtained from each patient and a blood sample was processed for DNA extraction. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques and all mutations were confirmed by direct sequencing. Four different mutations were identified in five patients (four in BRCA2 and one in BRCA1) representing 4.5% of the total. Two unrelated patients were found to have a BRCA2 5531delTT mutation. Other BRCA2 mutations included C5507G and 6174delT. Only one BRCA1 mutation was found (C3522T). The family with the BRCA1 mutation had five cases of gastric cancer. Families with BRCA2 mutations were also reported to have cases of gastric and prostate cancers; however, the full range of cancers associated with BRCA1 and BRCA2 mutations in Costa Rica has not yet been established.
authors: Escuela de Biología, Universidad de Costa Rica, San José, Costa Rica Women's College Research Institute, Toronto, Ontario, Canada.
authors: G A
authors: GA
authors: Gutiérrez Espeleta
authors: M
authors: M
authors: Llacuachaqui
authors: L
authors: L
authors: García-Jiménez
authors: M
authors: M
authors: Aguilar Herrera
authors: K
authors: K
authors: Loáiciga Vega
authors: A
authors: A
authors: Ortiz
authors: R
authors: R
authors: Royer
authors: S
authors: S
authors: Li
authors: S A
authors: SA
authors: Narod
mesh_terms: D000328:Adult; D000368:Aged; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D003364:Costa Rica / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D011471:Prostatic Neoplasms / Q000453:epidemiology / Q000235:genetics; D013274:Stomach Neoplasms / Q000453:epidemiology / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; C551750:BRCA2 protein, human; C111164:BRAP protein, human; D044767:Ubiquitin-Protein Ligases