Next Article in Journal
Automated Knowledge-Based Intensity-Modulated Proton Planning: An International Multicenter Benchmarking Study
Next Article in Special Issue
Population Based Testing for Primary Prevention: A Systematic Review
Previous Article in Journal
Immunoliposomes with Simvastatin as a Potential Therapeutic in Treatment of Breast Cancer Cells Overexpressing HER2—An In Vitro Study
Open AccessArticle

A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico

1
Cancer Biology Division, Ponce Research Institute, Ponce Health Sciences University, Ponce, Ponce, PR 00716-2348, USA
2
Cancer Control and Population Sciences Program, Comprehensive Cancer Center, University of Puerto Rico, San Juan, PR 00936-5067, USA
3
Cancer Genomics Research Laboratory, Leidos Biomedical Research, Inc., Frederick, MD 21702, USA
4
Department of Biostatistics and Epidemiology, Graduate School of Public Health, University of Puerto Rico, San Juan, PR 00936-5067, USA
5
Department of Surgery, School of Medicine, University of Puerto Rico and University of Puerto Rico Comprehensive Cancer Center, San Juan, PR 00936-5067, USA
6
Biology Department, Oakland University, Rochester, MI 48309-4454, USA
7
Department of Biology, University of Puerto Rico in Mayaguez, Mayaguez, PR 00681, USA
8
Cancer Center, Auxilio Mutuo Hospital, San Juan, PR 00936-5067, USA
9
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Gaithersburg, MD 20877, USA
*
Author to whom correspondence should be addressed.
Cancers 2018, 10(11), 419; https://doi.org/10.3390/cancers10110419
Received: 14 August 2018 / Revised: 22 October 2018 / Accepted: 26 October 2018 / Published: 2 November 2018
(This article belongs to the Special Issue BRCA Mutations and Cancer)
Breast cancer is the most common cause of cancer diagnosis in women and is responsible for considerable mortality among the women of Puerto Rico. However, there are few studies in Puerto Rico on the genetic factors influencing risk. To determine the contribution of pathogenic mutations in BRCA1 and BRCA2, we sequenced these genes in 302 cases from two separate medical centers, who were not selected for age of onset or family history. We identified nine cases that are carriers of pathogenic germline mutation. This represents 2.9% of unselected cases and 5.6% of women meeting National Comprehensive Cancer Network (NCCN) criteria for BRCA testing. All of the identified pathogenic mutations were in the BRCA2 gene and the most common mutation is the p.Glu1308Ter (E1308X) mutation in BRCA2 found in eight out of nine cases, representing 89% of the pathogenic carriers. The E1308X mutation has been identified in breast and ovarian cancer families in Spain, and analysis of flanking DNA polymorphisms shows that all E1308X carriers occur on the same haplotype. This is consistent with BRCA2 E1308X being a founder mutation for the Puerto Rican population. These results will contribute to better inform genetic screening and counseling of breast and ovarian cancer cases in Puerto Rico and Puerto Rican populations in mainland United States. View Full-Text
Keywords: breast cancer genetics; BRCA1/BRCA2; founder effect; Hispanic and Latino populations breast cancer genetics; BRCA1/BRCA2; founder effect; Hispanic and Latino populations
Show Figures

Figure 1

MDPI and ACS Style

Diaz-Zabala, H.J.; Ortiz, A.P.; Garland, L.; Jones, K.; Perez, C.M.; Mora, E.; Arroyo, N.; Oleksyk, T.K.; Echenique, M.; Matta, J.L.; Dean, M.; Dutil, J. A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. Cancers 2018, 10, 419.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop