ArticleMedical oncology (Northwood, London, England)2021
Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
Article in Medical oncology (Northwood, London, England), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- MicroRNA Expression in Endometrial Cancer: Current Knowledge and Therapeutic Implications.Medicina (Kaunas, Lithuania) · 2024Pooled it
- Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant.Cancers · 2026Article
- An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed.Therapeutic advances in medical oncology · 2026Review
- Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.International journal of molecular sciences · 2025Article
- Age-specific familial risks in cancer as clues to germline genetic and environmental causes: focus on colorectal, endometrial, prostate, kidney, breast and lung cancers.Hereditary cancer in clinical practice · 2025Review
- Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.International journal of cancer · 2025Article
- Nomogram Incorporating Inflammatory Index, Pathology, and Molecular Classification for Predicting Recurrence in Patients with Stage I-III Endometrial Cancer: A Multi-Institutional Study.Journal of inflammation research · 2025Article
- Polyploidy Promotes Hypertranscription, Apoptosis Resistance, and Ciliogenesis in Cancer Cells and Mesenchymal Stem Cells of Various Origins: Comparative Transcriptome In Silico Study.International journal of molecular sciences · 2024Article
- Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.Genes · 2023Article
- Germline multigene panel testing of patients with endometrial cancer.Oncology letters · 2023Article
- Review
- Cancer carrier screening in the general population using whole-genome sequencing.Cancer medicine · 2023Article
- Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.International journal of molecular sciences · 2022Review
- Article
- HBOC syndrome with an uncharacterized variant in theOncology letters · 2022Article
- Endometrial Cancer and BRCA Mutations: A Systematic Review.Journal of clinical medicine · 2022Review
- Article
- Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention.International journal of molecular sciences · 2021Review
- Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Endometrial cancer (EC) is the fifth most common cancer in women from developed countries, accounting for 4.8% of new cases and 2.1% of deaths. The genetic basis for the familial risk of endometrial cancer has not been completely defined. Mostly, hereditary EC is part of two syndromes as Lynch syndrome (LS) and Hereditary Breast and Ovarian Cancer syndrome (HBOC). LS is the prototypical hereditary cancer syndrome in EC and accounts for 2-6% of all endometrial cancers. This disease is caused by autosomal dominant mutations in DNA mismatch repair (MMR) genes. Patients carrying a germline mutation in one of the MMR genes have a cumulative lifetime risk to develop EC of 20-70%. HBOC is an autosomal dominantly inherited disease, which mostly predisposes to breast and ovarian cancers, but it can be also associated with other malignancies. HBOC results from germline mutations in BRCA1/2 genes. The aim of this study was to determine the mutational status of a cohort of 40 EC patients, 19 belonging to families with LS and 21 to HBOC. Mutation analysis of MLH1, MSH2, BRCA1 and BRCA2 genes showed pathogenic variants in 17/40 (42.5%) patients. Out of 19 patients belonging to LS families, 8 (42.1%) showed a pathogenic variant. Out of 21 patients belonging to HBOC families, 9 (42.8%) showed a pathogenic variant. 1/21 (4.8%) patient report 1 variant of unknown significance (UV), c.599 C > T (p.T200I), in BRCA2. Moreover, in 1/21 (4.8%) patient we identified a novel missense variant in BRCA2, c.9541A > T (p.Met3181Leu). Mutational analysis was extended to family members, both healthy and cancer affected, of mutated patients; all the tested relatives affected with cancer displayed the pathogenic variant. Our data suggest that patients with hereditary EC have a high percentage of mutations in the LS and HBOC main susceptibility genes; therefore, the surveillance for EC, already indicated in LS patients, should also be recommended for patients with HBOC.
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