Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer

Annie Wang,Jennifer Chun,Freya Schnabel,Jessica N Everett,Diane M Simeone,Cindy Cen

doi:10.1038/s41598-021-91971-0

Annie Wang, Jennifer Chun + Show 4 more

Open Access

https://doi.org/10.1038/s41598-021-91971-0

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Journal: Scientific Reports	Publication Date: Jun 14, 2021
Citations: 1	License type: open-access

Affiliation: New York University Langone Medical Center

Abstract

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. 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 and 2018 in the NYU Langone Health Breast Cancer Database. 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 (p < 0.001), but 33% had testing for BRCA1/2 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. 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.

Highlights

Changing practice guidelines and recommendations have important implications for cancer survivors
Breast cancer patients with a family history of pancreatic cancer (PC) were 1.93 times more likely to be of white race (p < 0.001) and 1.68 times more likely to have had genetic testing (56% vs 44%, p < 0.001) than those without family history of PC
Among breast cancer (BC) patients without family history of pancreatic cancer (FHPC), 145/1315 (11.0%) of patients had a Pathogenic germline variants (PGV) identified, with 123/145 (85%) occurring in genes linked to PC risk (Table 2)

Summary

Introduction

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. 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. Current NCCN clinical practice guidelines recommend consideration of comprehensive testing with a multi-gene panel for BC patients meeting specific testing criteria based on age, hormone receptor status, Ashkenazi Jewish ancestry, and family history criteria, as well as for all PC patients. The evolving knowledge about underlying PGVs linking BC and PC risk, the utility of multi-gene panel testing, and the emergence of data supporting the benefit of PC screening in high-risk individuals have potential implications for long term care of BC survivors. We sought to better characterize the implications of changing practice guidelines and clinical recommendations for BC survivors, utilizing the specific example of PC risk

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