Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk
| العنوان: | Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk |
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| المؤلفون: | Olufunmilayo I. Olopade, Sonia S. Kupfer, Matthew F. Jones, Caroline M. Weipert, Allison H. West, Jessica Stoll, Sarah M. Nielsen, Kathleen R. Blazer, Jeffrey N. Weitzel |
| المصدر: | Familial Cancer. 17:495-505 |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Oncology, Heterozygote, Cancer Research, medicine.medical_specialty, Concordance, Breast Neoplasms, Ataxia Telangiectasia Mutated Proteins, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Physicians, Internal medicine, Cancer screening, Genetics, medicine, Humans, Genetic Predisposition to Disease, CHEK2, Mastectomy, Genetics (clinical), business.industry, Cancer, Middle Aged, medicine.disease, Penetrance, Human genetics, Pedigree, Pancreatic Neoplasms, Checkpoint Kinase 2, Cross-Sectional Studies, 030104 developmental biology, 030220 oncology & carcinogenesis, Relative risk, Female, business |
| الوصف: | Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a two to five-fold relative risk of cancer. Two such genes included on many comprehensive cancer panels are the DNA repair genes ATM and CHEK2, best known for moderately increased risk of breast cancer development. However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized. We convened a large, multidisciplinary, cross-sectional panel of GCRA clinicians to review challenging, peer-submitted cases of patients identified with ATM or CHEK2 variants. This paper summarizes the inter-professional case discussion and recommendations generated during the session, the level of concordance with respect to recommendations between the academic and community clinician participants for each case, and potential barriers to implementing recommended care in various practice settings. |
| تدمد: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-018-0070-x |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ee012f73b84573407c31c2d894fc50 https://doi.org/10.1007/s10689-018-0070-x |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c2ee012f73b84573407c31c2d894fc50 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737292 13899600 |
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| DOI: | 10.1007/s10689-018-0070-x |