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Impact of Changing Guidelines on Genetic Testing and Surveillance Recommendations in a Contemporary Cohort of Breast Cancer Survivors with Family History of Pancreatic Cancer

Authors :
Annie Wang
Jennifer Chun
Diane M. Simeone
Cindy Cen
Jessica Everett
Freya Schnabel
Source :
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021), Scientific Reports
Publication Year :
2021
Publisher :
Research Square Platform LLC, 2021.

Abstract

Background: Changing practice guidelines and recommendations have important implications for cancer survivors. This study investigated genetic testing patterns and outcomes and reported family history of pancreatic cancer (FHPC) in a large registry population of breast cancer (BC) patients. Methods: Variables including clinical and demographic characteristics, FHPC in a first or second-degree relative, and genetic testing outcomes were analyzed for BC patients diagnosed between 2010-2018 in the NYU Langone Health Breast Cancer Database. Results: Among 3334 BC patients, 232 (7%) had a positive FHPC. BC patients with FHPC were 1.68 times more likely to have undergone genetic testing (pBRCA1/2 only and 44% had no genetic testing. Pathogenic germline variants (PGV) were identified in 15/129 (11.6%) BC patients with FHPC, and in 145/1315 (11.0%) BC patients without FHPC. Across both groups, updates in genetic testing criteria and recommendations could impact up to 80% of this cohort. Conclusions: Within a contemporary cohort of BC patients, 7% had a positive FHPC. The majority of these patients (56%) had no genetic testing, or incomplete testing by current standards, suggesting under-diagnosis of PC risk. This study supports recommendations for survivorship care that incorporate ongoing genetic risk assessment and counseling.

Details

Database :
OpenAIRE
Journal :
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021), Scientific Reports
Accession number :
edsair.doi.dedup.....ac4c55cbc960c151ea24731f1f751daa
Full Text :
https://doi.org/10.21203/rs.3.rs-396248/v1