Counselling framework for moderate-penetrance cancer-susceptibility mutations Journal Article
| Authors: | Tung, N.; Domchek, S. M.; Stadler, Z.; Nathanson, K. L.; Couch, F.; Garber, J. E.; Offit, K.; Robson, M. E. |
| Article Title: | Counselling framework for moderate-penetrance cancer-susceptibility mutations |
| Abstract: | The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly in clinical practice, particularly in the USA, despite concerns regarding the uncertain clinical validity for some gene variants and the uncertain clinical utility of most multigene panels. So-called 'moderate-penetrance' gene mutations associated with cancer susceptibility are identified in approximately 2-5% of individuals referred for clinical testing; some of these mutations are potentially actionable. Nevertheless, the appropriate management of individuals harbouring such moderate-penetrance genetic variants is unclear. The cancer risks associated with mutations in moderate-penetrance genes are lower and different than those reported for high-penetrance gene mutations (such as mutations in BRCA1 and BRCA2, and those associated with Lynch syndrome). The extrapolation of guidelines for the management of individuals with high-penetrance variants of cancer-susceptibility genes to the clinical care of patients with moderate-penetrance gene mutations could result in substantial harm. Thus, we provide a framework for clinical decision-making pending the development of a sufficient evidence base to document the clinical utility of the interventions for individuals with inherited moderate-penetrance gene mutations associated with an increased risk of cancer. © 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. |
| Journal Title: | Nature Reviews Clinical Oncology |
| Volume: | 13 |
| Issue: | 9 |
| ISSN: | 1759-4774 |
| Publisher: | Nature Publishing Group |
| Date Published: | 2016-09-01 |
| Start Page: | 581 |
| End Page: | 588 |
| Language: | English |
| DOI: | 10.1038/nrclinonc.2016.90 |
| PROVIDER: | scopus |
| PUBMED: | 27296296 |
| PMCID: | PMC5513673 |
| DOI/URL: | |
| Notes: | Review -- Export Date: 1 September 2016 -- Source: Scopus |
Altmetric
Citation Impact
BMJ Impact Analytics
Related MSK Work