A multi-gene panel study in hereditary breast and ovarian cancer in Colombia

Familial Cancer
A M Cock-RadaL R Gomez

Abstract

Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis. Nineteen patients (22.4%) carried a deleterious germline mutation in a cancer susceptibility gene: BRCA1 (7), BRCA2 (8), PALB2 (1), ATM (1), MSH2 (1) and PMS2 (1). The frequency of mutations in BRCA1/2 was 17.6%. One BRCA2 mutation (c.9246dupG) was recurrent in five non-related individuals and is not previously reported in the country. Seventeen mutation-carriers had a diagnosis of breast cancer (median age of diagnosis of 36 years) and two of ovarian cancer. All BRCA1 mutation-carriers with breast cancer had tripl...Continue Reading

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Citations

Feb 20, 2019·Genes·Valentina A ZavalaLaura Fejerman
Jul 26, 2019·Hereditary Cancer in Clinical Practice·Carolina CortésGuillermo Barreto
Feb 16, 2018·Human Mutation·Timothy R RebbeckKatherine L Nathanson
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Feb 1, 2021·Current Opinion in Genetics & Development·Rosa Maria Alvarez-GomezAlfredo Hidalgo-Miranda

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