Abstract:
: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 2 to fivefold 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.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
West AH,Blazer KR,Stoll J,Jones M,Weipert CM,Nielsen SM,Kupfer SS,Weitzel JN,Olopade OIdoi
10.1007/s10689-018-0070-xsubject
Has Abstractpub_date
2018-10-01 00:00:00pages
495-505issue
4eissn
1389-9600issn
1573-7292pii
10.1007/s10689-018-0070-xjournal_volume
17pub_type
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