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

Sci Rep. 2021 Jun 14;11(1):12491. doi: 10.1038/s41598-021-91971-0.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / genetics
  • Breast Neoplasms / mortality*
  • Breast Neoplasms / therapy
  • Breast Neoplasms, Male / genetics
  • Breast Neoplasms, Male / mortality*
  • Breast Neoplasms, Male / therapy
  • Cancer Survivors / statistics & numerical data
  • Early Detection of Cancer / methods
  • Early Detection of Cancer / standards
  • Early Detection of Cancer / statistics & numerical data
  • Female
  • Genetic Counseling / standards
  • Genetic Counseling / statistics & numerical data
  • Genetic Predisposition to Disease
  • Genetic Testing / standards*
  • Genetic Testing / statistics & numerical data
  • Humans
  • Longitudinal Studies
  • Male
  • Medical History Taking / statistics & numerical data
  • Middle Aged
  • Mutation
  • Neoplasm Recurrence, Local / diagnosis
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / prevention & control
  • Pancreatic Neoplasms / diagnosis*
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / prevention & control
  • Practice Guidelines as Topic*
  • Registries / statistics & numerical data
  • Survivorship

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human