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Last Posted: Mar 16, 2023
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Sarcoma predisposition.
Tiago Faial et al. Nature genetics 2023 2 (2) 167

Sarcomas are a group of rare cancers that have been relatively understudied compared with epithelial malignancies. To gain more insight into the etiology of these mesenchymal tumors, A new study carried out whole-genome germline sequencing on 1,644 individual people, along with family members and matched control participants. The analyses identified mutations in 14 new putative sarcoma-predisposing genes and, importantly, highlighted two pathways involved in mitosis and telomere integrity.

Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows
C Wang et al, Genetics in Medicine, February 10, 2023

This study examined the uptake of genetic counseling and testing following the use of a digital cancer genetic risk assessment program, implemented at 27 health care sites in 10 States using one of four clinical workflows: 1) traditional referral, 2) point-of-care scheduling (POC-S), 3) point-of care counseling/telegenetics (POC-C), and 4) point-of-care testing (POC-T). In 2019, 102,542 patients were screened and 33,113 (32%) were identified as high risk and meeting National Comprehensive Cancer Network (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer, Lynch syndrome or both. Among those identified at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake was 11% among sites with workflows that included seeing a genetic counselor prior to testing.

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.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.