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

• Published in: PloS one Vol. 14; no. 9; p. e0222709
• Main Authors: Fragoso-Ontiveros, Veronica, Velázquez-Aragón, Jose Antonio, Nuñez-Martínez, Paulina Maria, de la Luz Mejía-Aguayo, Maria, Vidal-Millán, Silvia, Pedroza-Torres, Abraham, Sánchez-Contreras, Yuliana, Ramírez-Otero, Miguel Angel, Muñiz-Mendoza, Rodolfo, Domínguez-Ortíz, Julieta, Wegman-Ostrosky, Talia, Bargalló-Rocha, Juan Enrique, Gallardo-Rincón, Dolores, Reynoso-Noveron, Nancy, Arriaga-Canon, Cristian, Meneses-García, Abelardo, Herrera-Montalvo, Luis Alonso, Alvarez-Gomez, Rosa Maria
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 23.09.2019; Public Library of Science (PLoS)
• Subjects: Adult; Biology and Life Sciences; BRCA genes; BRCA1 protein; BRCA1 Protein - genetics; Breakpoints; Breast cancer; Breast Neoplasms - diagnosis; Breast Neoplasms - genetics; Cancer genetics; Carriers; Diagnosis; Diagnostic systems; EDTA; Exons; Exons - genetics; Family Health; Female; Founder Effect; Genetic aspects; Genetic Predisposition to Disease - genetics; Genetic Testing; Germ-Line Mutation; Health aspects; Health risk assessment; Humans; Medical diagnosis; Medicine and Health Sciences; Mexicans; Mexico; Middle Aged; Mutation; Ovarian cancer; Ovarian carcinoma; Ovarian Neoplasms - diagnosis; Ovarian Neoplasms - genetics; People and places; Polymerase chain reaction; Risk factors; Sequence Deletion; Target detection; Young Adult; Mexico
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0222709

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.