Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Sep 23;14(9):e0222709.
doi: 10.1371/journal.pone.0222709. eCollection 2019.

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

Veronica Fragoso-Ontiveros  1 , Jose Antonio Velázquez-Aragón  2 , Paulina Maria Nuñez-Martínez  1 , Maria de la Luz Mejía-Aguayo  1 , Silvia Vidal-Millán  1 , Abraham Pedroza-Torres  3 , Yuliana Sánchez-Contreras  1 , Miguel Angel Ramírez-Otero  1 , Rodolfo Muñiz-Mendoza  3 , Julieta Domínguez-Ortíz  1 , Talia Wegman-Ostrosky  1 , Juan Enrique Bargalló-Rocha  4 , Dolores Gallardo-Rincón  5 , Nancy Reynoso-Noveron  6 , Cristian Arriaga-Canon  3 , Abelardo Meneses-García  7 , Luis Alonso Herrera-Montalvo  3 , Rosa Maria Alvarez-Gomez  1
Affiliations

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

Veronica Fragoso-Ontiveros et al. PLoS One. .

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.

PubMed Disclaimer

Conflict of interest statement

The authors have declared that no competing interest exist.

Figures

Fig 1
Fig 1. Geographic distribution (place of birth) of the carriers of the 9–12 del BRCA1.
Fig 2
Fig 2. Proposed approach for Mexican hereditary breast and ovarian cancer patients.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Brody LC, Biesecker BB. Breast cancer susceptibility genes BRCA1 and BRCA2. Medicine. 1998; 77: 208–26. 10.1097/00005792-199805000-00006 - DOI - PubMed
    1. King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003; 302: 643–6. 10.1126/science.1088759 - DOI - PubMed
    1. Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer. 2004; 4: 665–76. 10.1038/nrc1431 - DOI - PubMed
    1. Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013; 105: 812–22. 10.1093/jnci/djt095 - DOI - PubMed
    1. Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, et al. The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res. 2008; 68: 7006–14. 10.1158/0008-5472.CAN-08-0599 - DOI - PMC - PubMed

Grants and funding

The authors received no specific funding for this work.