title: Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.
abstract: The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2 in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented 7 of 11 mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: J
authors.initials: J
authors.lastname: Abugattas
authors.affiliation: Familial Breast Cancer Research Unit, Women's College Research Institute, Toronto, ON, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Llacuachaqui
authors.affiliation: Unidad de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.|Escuela de Medicina, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.
authors.forename: Y Sullcahuaman
authors.initials: YS
authors.lastname: Allende
authors.affiliation: Unidad de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: A Arias
authors.initials: AA
authors.lastname: Velásquez
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: R
authors.initials: R
authors.lastname: Velarde
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: J
authors.initials: J
authors.lastname: Cotrina
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: M
authors.initials: M
authors.lastname: Garcés
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: M
authors.initials: M
authors.lastname: León
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: G
authors.initials: G
authors.lastname: Calderón
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: M
authors.initials: M
authors.lastname: de la Cruz
authors.affiliation: Departamento de Mamas, Partes Blandas y Piel, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
authors.forename: P
authors.initials: P
authors.lastname: Mora
authors.affiliation: Familial Breast Cancer Research Unit, Women's College Research Institute, Toronto, ON, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Royer
authors.affiliation: City of Hope Comprehensive Cancer Center and Beckman Research Institute, Division of Clinical Cancer Genetics, Duarte, CA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Herzog
authors.affiliation: City of Hope Comprehensive Cancer Center and Beckman Research Institute, Division of Clinical Cancer Genetics, Duarte, CA, USA.
authors.forename: J N
authors.initials: JN
authors.lastname: Weitzel
authors.affiliation: Familial Breast Cancer Research Unit, Women's College Research Institute, Toronto, ON, Canada.
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010568:Peru / Q000453:epidemiology
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA1; BRCA2; Peru; breast cancer; hereditary