ArticleHereditary cancer in clinical practice2021
Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature.
Article in Hereditary cancer in clinical practice, 2021. 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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7 citing papers in PubMed, 9 citations in OpenAlex.
- Genomic landscape of hereditary cancer syndromes in the largest cohort in Colombia: a retrospective study.Lancet regional health. Americas · 2026Article
- Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.International journal of molecular sciences · 2024Article
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.Dermatology practical & conceptual · 2024Article
- Common skin cancers and their association with other non-cutaneous primary malignancies: a review of the literature.Medical oncology (Northwood, London, England) · 2024Review
- Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.Journal of medical genetics · 2023Article
- The Impact of Comprehensive Panel NGS Testing and Cascade Family Screening on Early Diagnosis of Prostate Cancer and MINAS (Cancer diagnosis & prognosisArticle
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes' homeostasis. Individuals harboring MITF germline pathogenic variants are at increased risk of developing cancer, most notably melanoma and renal cell carcinoma. CASE PRESENTATION: We describe a cohort of ten individuals who harbor the same MITF c.952G > A (p.Glu 318Lys), or p.E318K, germline pathogenic variant. Six carriers developed at least one malignancy (4 cases of breast cancer; 1 cervical cancer; 1 colon cancer; 1 melanoma; 1 ovarian/fallopian tube cancer). A significant phenotypic heterogeneity was found among these individuals and their relatives. Breast cancer was, overall, the most frequent malignancy observed in this case series, with 13 occurrences of 60 (21.67 %) total cancer cases described among the probands and their relatives.
conclusionsOur retrospective analysis data raise the hypothesis of a possible association of the MITF p.E318K pathogenic variant with an increased risk of breast cancer.
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