Uptake of cancer risk management strategies among women who undergo cascade genetic testing for breast cancer susceptibility genes

Sukh Makhnoon, Grace Tran, Brooke Levin, Kristin D. Mattie, Brian Dreyer, Robert J. Volk, Generosa Grana, Banu K. Arun, Susan K. Peterson

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Background: Uptake of cancer risk management based on inherited predispositions, which encompasses bilateral mastectomy (BLM), bilateral salpingo-oophorectomy (BSO), and intensified screening, is the primary motivation for cascade testing for hereditary breast and ovarian cancer (HBOC). However, long-term outcome data for cascade testers are lacking. Methods: Medical records were abstracted for all unaffected women with pathogenic variants in HBOC genes from 2 cancer hospitals (2013-2019) with at least 1 year of follow-up to compare the uptake of surgery and screening between cascade and noncascade testers. Results: Cascade testers (79.8%) were younger than noncascade testers (mean age, 37.6 vs 43.5 years; P =.002). Among women aged ≥40 years, 43% underwent BLM, and 71.6% underwent BSO, with no significant difference in uptake between cascade and noncascade testers. The mean time to BSO among cascade testers was shorter among women aged ≥40 years versus those aged <40 years (11.8 vs 31.9 months; P =.04); no such difference was observed among noncascade testers. Mammography and breast magnetic resonance imaging rates were low in the recorded 6 years for both groups after genetic counseling. Conclusions: Management uptake among cascade testers is high with rates comparable to those for unaffected BRCA-positive women. A large proportion of women act on cascade test results, and this represents a novel report of utilization of cancer management strategies.

Original languageEnglish (US)
Pages (from-to)3605-3613
Number of pages9
JournalCancer
Volume127
Issue number19
DOIs
StatePublished - Oct 1 2021
Externally publishedYes

Keywords

  • cancer
  • cascade genetic testing
  • outcome
  • screening
  • surgery

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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