Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report
| Autor: | Fei Dong, Diane R. Koeller, Danielle K. Manning, Neal I. Lindeman, Judy Garber, Arezou A. Ghazani, Alison Schwartz |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Genes APC Adenomatous polyposis coli Colorectal cancer Adenomatous Polyposis Coli Protein 030204 cardiovascular system & hematology Germline 03 medical and health sciences 0302 clinical medicine Germline mutation medicine Humans Family history Carcinoma Renal Cell Gene Germ-Line Mutation Genetic testing Aged 80 and over Genetics medicine.diagnostic_test biology business.industry Articles General Medicine medicine.disease Phenotype Germ Cells Adenomatous Polyposis Coli 030220 oncology & carcinogenesis biology.protein business |
| Zdroj: | The American Journal of Case Reports |
| ISSN: | 1941-5923 |
| DOI: | 10.12659/ajcr.927293 |
| Popis: | Patient: Male, 80-year-old Final Diagnosis: Attenuated APC-associated polyposis Symptoms: Colon polyps • renal carcinoma Medication: — Clinical Procedure: — Specialty: Genetics Objective: Unusual clinical course Background: The diagnoses of adenomatous polyposis coli (APC)-associated polyposis conditions are typically based on suggestive personal features and/or family history, and the identification of a pathogenic variant in the APC gene. However, with large-scale genome sequencing, it is now possible to identify pathogenic variants before or even without the presentation of the expected clinical features. This case describes a novel pathogenic APC variant. Case Report: We report the unexpected identification of a rare, pathogenic germline APC variant, p.S2627Gfs*12 in an 80-year-old man with a diagnosis of renal cell carcinoma, without any family history of APC-associated polyposis or personal history of colorectal cancer. After the identification of the APC variant, a review of the patient’s medical records showed a personal history of 15 adenomatous polyps over a decade ago, with no follow-up genetic testing at the time. Conclusions: This novel APC variant has not been characterized to date. The presence of the APC-p.S2627Gfs*12 variant in this patient led to the recommendation of additional cascade genetic testing and surveillance measures for any family members who tested positive for this variant. This report highlights the broad spectrum of the APC-associated polyposis features, and a mild phenotype associated with the pathogenic APC p.S2627Gfs*12 variant. |
| Databáze: | OpenAIRE |
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