The American Journal of Human Genetics · 2018 · 73 citations · 45 references
Life SciencesGeneticsOncologyCancer GeneticsMedical GeneticsMolecular OncologyCancer GenomicsGermline Cancer PredispositionVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationHereditary Cancer Variant InterpretationInherited Cancer Predisposition GenesIntratumor Genetic HeterogeneitySingle Nucleotide Variant AnalysisSingle-variant TestingTumor Genomics InterpretationTumor Spectrum CharacterizationVariant Interpretation In Oncology
= 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.
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