ArticlePloS one2019
Mexican BRCA1 founder mutation: Shortening the gap in genetic assessment for hereditary breast and ovarian cancer patients.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2026Article
- A Molecular Characterization of the Allelic Expression of theInternational journal of molecular sciences · 2024Article
- Identification of Germline Variants in Patients with Hereditary Cancer Syndromes in Northeast Mexico.Genes · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.JCO global oncology · 2022Article
- Clinical Benefits of Olaparib in Mexican Ovarian Cancer Patients With Founder MutationFrontiers in genetics · 2022Article
- Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.NPJ breast cancer · 2021Article
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
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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.
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