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. Author manuscript; available in PMC: 2016 Jan 1.
Published in final edited form as: J Surg Oncol. 2014 Jul 3;111(1):9–17. doi: 10.1002/jso.23712

Table 2.

Summary of vignettes

Vignette subject Major theme Communication challenges
1. An African American patient with
several variants in multiple genes
Risk of VUS with panel tests; risk of VUS in
non-Caucasian populations; risk of VUS
misinterpretation; risk of ancillary findings
in genes unrelated to the family history
-Explaining VUS vs disease causing mutations
-Race/ethnicity differences in VUS rates
-Management of ancillary VUS in clinically
relevant and non-relevant genes
2. A patient with cancer and a single
(heterozygous) mutation in the NBN
gene
Communicating risks of cancer in the
carrier state for recessive gene mutations;
testing of family members for recessive
genes
-Impact of heterozygous mutations on
hereditary cancer risk and prevention
-Approach to the family for testing for
heterozygous mutations
3. Genetic testing to guide treatment
decisions for breast cancer discovers
a mutation in the RAD51D gene
Interpreting cancer risks for gene
mutations unrelated to family history;
interpreting cancer risks for clinically less
studied genes
-Interpreting genetic mutations in the context
of clinical history
-Management of mutations in genes with
limited clinical information