Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

James Whitworth, Philip Smith, Jose‐Ezequiel Martín, Hannah D. West, Andrea Luchetti, Faye Rodger, Graeme M. Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups,

The American Journal of Human Genetics · 2018 · 73 citations · 45 references

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Abstract

= 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.

References

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