Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients


Autoři: Veronica Fragoso-Ontiveros aff001;  Jose Antonio Velázquez-Aragón aff002;  Paulina Maria Nuñez-Martínez aff001;  Maria de la Luz Mejía-Aguayo aff001;  Silvia Vidal-Millán aff001;  Abraham Pedroza-Torres aff003;  Yuliana Sánchez-Contreras aff001;  Miguel Angel Ramírez-Otero aff001;  Rodolfo Muñiz-Mendoza aff003;  Julieta Domínguez-Ortíz aff001;  Talia Wegman-Ostrosky aff001;  Juan Enrique Bargalló-Rocha aff004;  Dolores Gallardo-Rincón aff005;  Nancy Reynoso-Noveron aff006;  Cristian Arriaga-Canon aff003;  Abelardo Meneses-García aff007;  Luis Alonso Herrera-Montalvo aff003;  Rosa Maria Alvarez-Gomez aff001
Působiště autorů: Hereditary Cancer Clinic, National Cancer Institute, Mexico city, Mexico aff001;  Molecular Biology Laboratory, National Paediatrics Institute, Mexico city, Mexico aff002;  Research Direction, National Cancer Institute, Mexico city, Mexico aff003;  Breast Cancer Department, National Cancer Institute, Mexico city, Mexico aff004;  Medical Oncology Department, National Cancer Institute, Mexico city, Mexico aff005;  Epidemiology Department, National Cancer Institute, Mexico city, Mexico aff006;  General Direction, National Cancer Institute, Mexico city, Mexico aff007
Vyšlo v časopise: PLoS ONE 14(9)
Kategorie: Research Article
doi: 10.1371/journal.pone.0222709

Souhrn

The deletion of exons 9 to 12 of BRCA1 (9–12 del BRCA1) is considered a founder mutation in the Mexican population. We evaluate the usefulness of the target detection of 9–12 del BRCA1 as the first molecular diagnostic strategy in patients with Hereditary Breast and Ovarian Cancer (HBOC). We performed the genetic assessment of 637 patients with suspected HBOC. The region corresponding to the breakpoints for the 9–12 del BRCA1 was amplified by polymerase chain reaction (PCR). An analysis of the clinical data of the carriers and non-carriers was done, searching for characteristics that correlated with the deletion. The 9–12 del BRCA1 was detected in 5% of patients with suspected HBOC (30/637). In patients diagnosed with ovarian cancer, 13 of 30 were 9–12 del BRCA1 carriers, which represents 43%. We found a significant association between the 9–12 del BRCA1 carriers with triple negative breast cancer and high-grade papillary serous ovarian cancer. We concluded that the detection of the 9–12 del BRCA1 is useful as a first molecular diagnostic strategy in the Mexican population. In particular, it shortens the gap in genetic assessment in patients with triple negative breast cancer and ovarian cancer.

Klíčová slova:

Breast cancer – Cancer detection and diagnosis – Carcinomas – Mexican people – Ovarian cancer – Point mutation – Genetic causes of cancer – Invasive ductal carcinoma


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PLOS One


2019 Číslo 9

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