ArticleBreast cancer research and treatment2021
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Article in Breast cancer research and treatment, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- DNA Repair Genes as Drug Candidates for Early Breast Cancer Onset in Latin America: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.Cancer medicine · 2026Article
- Clinical Characteristics and Long-Term Outcomes of Young Women With Breast Cancer: A Multicenter Study From Uruguay.Cureus · 2026Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.Human genomics · 2024Article
- Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies.Breast cancer research and treatment · 2024Article
- PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.Breast cancer research and treatment · 2022Article
- Is Gestational Diabetes Mellitus a Risk Factor of Maternal Breast Cancer? A Systematic Review of the Literature.Biomedicines · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
purposeMutations in hereditary breast cancer genes play an important role in the risk for cancer.
methodsCancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome.
resultsA total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were BRCA1 (37/664, 5.6%) followed by BRCA2 (15/664, 2.3%), PALB2 (5/664, 0.8%), and TP53 (5/664, 0.8%). Pathogenic variants were also detected in the moderate penetrance genes ATM, BARD1, CHEK2, and MSH6. The high ratio of BRCA1/BRCA2 mutations is due to two potential founder mutations: BRCA1 c.212 + 1G > A splice mutation (15 cases) and BRCA1 c.799delT (9 cases). Cases with pathogenic mutations had a significantly earlier age at diagnosis (45 vs 51 years, P < 0.001), are more likely to have had diagnosis before menopause, and a higher percentage had a relative with any cancer (51% vs 37%, P = 0.038) or breast cancer (33% vs 15%, P < 0.001).
conclusionsHereditary breast cancer mutations were observed among Guatemalan women, and these women are more likely to have early age at diagnosis and family history of cancer. These data suggest the use of genetic testing in breast cancer patients and those at high risk as part of a strategy to reduce breast cancer mortality in Guatemala.
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