Open AccessMexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients
Author(s) -
Verónica Fragoso-Ontiveros,
José A. Velázquez-Aragón,
Paulina María Núñez-Martínez,
Maria de la Luz Mejía-Aguayo,
Silvia Vidal-Millán,
Abraham PedrozaTorres,
Yuliana Sánchez-Contreras,
Miguel Angel Ramírez-Otero,
R Muñiz-Mendoza,
Julieta Domínguez-Ortíz,
Talía Wegman-Ostrosky,
Juan Enrique Bargalló-Rocha,
Dolores GallardoRincón,
Nancy Reynoso-Noverón,
Cristian Arriaga-Ca,
Abelardo Meneses-García,
Luis Alonso Herrera-Montalvo,
Rosa María Álvarez-Gómez
Publication year - 2019
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0222709
Subject(s) - ovarian cancer , founder effect , breast cancer , genetic testing , serous fluid , population , cancer , mutation , oncology , medicine , triple negative breast cancer , exon , genetics , biology , genotype , gene , environmental health , haplotype
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.