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. 2021 Oct 1;127(19):3605-3613.
doi: 10.1002/cncr.33668. Epub 2021 Jun 22.

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

Sukh Makhnoon  1 , Grace Tran  2 , Brooke Levin  3 , Kristin D Mattie  3 , Brian Dreyer  4 , Robert J Volk  5 , Generosa Grana  3 , Banu K Arun  2 , Susan K Peterson  1
Affiliations

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

Sukh Makhnoon et al. Cancer. .

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.

Keywords: cancer; cascade genetic testing; outcome; screening; surgery.

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Figures

Figure 1.
Figure 1.
Filtering of patients for the analysis (MD Anderson Cancer Center, 01/2013-05/2019; MD Anderson at Cooper University Health Care, 2013-2018).
See this image and copyright information in PMC

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