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

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
Source :
PLoS ONE; 9/23/2019, Vol. 14 Issue 9, p1-12, 12p
Publication Year :
2019

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
19326203
Volume :
14
Issue :
9
Database :
Complementary Index
Journal :
PLoS ONE
Publication Type :
Academic Journal
Accession number :
138766706
Full Text :
https://doi.org/10.1371/journal.pone.0222709