Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
Holowatyj Andreana N et al. JAMA oncology 2022 11
What is the frequency of cancer susceptibility gene sequence variations in patients with appendix cancer? In this cohort study of 131 patients with appendix cancer who underwent clinical multigene panel testing, 11.5% harbored a pathogenic sequence variation. Among 74 patients with appendix cancer as the first and only primary tumor, a similar proportion (10.8%) carried a pathogenic sequence variation. The findings suggest that appendiceal cancer may be a previously underrecognized indication for hereditary cancer genetic testing (or a hereditary cancer syndrome) and that genetic evaluation should be considered for all patients with appendix cancer.
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review
AL Young et al, EJHG, October 17, 2022
Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4–60.0% contacted a genetics clinic and 22.8–76.2% had genetic testing after they were counselled at a genetics clinic.
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
C Horton et al, NPJ Genomic Medicine, August 25, 2022
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer.
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Ceyhan-Birsoy Ozge et al. Genome medicine 2022 8 (1) 92
Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary cancer gene panels uncovered hereditary predisposition in a greater proportion of patients than previously anticipated. We sought to define the diagnostic yield of eGT and its clinical relevance in a broad cancer patient population over a 5-year period.