AI Article Synopsis
- Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Lynch Syndrome (HNPCC) are two genetic conditions that significantly increase the risk for breast and colorectal cancers, often needing thorough testing for diagnosis.
- A case study revealed a patient with both BRCA1 and MSH6 gene mutations diagnosed with endometrial cancer at 46, highlighting the complexity of these syndromes.
- Although rare, identifying individuals with both mutations can be challenging, and accurate diagnosis requires comprehensive genetic testing, supported by clinical and pathological evaluations.
Article Abstract
Background: Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of hereditary breast and colorectal cancers. Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare.
Case Presentation: We identified germline mutations in BRCA1 and in MSH6 in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years.
Conclusions: Although carriers of mutations in both MMR and BRCA genes are rare in Caucasian populations and anamnestical and histopathological findings may guide clinicians to identify these families, both syndromes can only be diagnosed through a complete gene analysis of the respective genes.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537684 | PMC |
| http://dx.doi.org/10.1186/1471-2407-12-531 | DOI Listing |
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