Use of Breast Surveillance Between Women With Pathogenic Variants and Variants of Uncertain Significance in Breast Cancer Susceptibility Genes

Authors

Sukh Makhnoon
Minxing Chen
Brooke Levin
Megan Ensinger
Kristin D Mattie
Generosa Grana
Sanjay Shete
Banu K Arun
Susan K Peterson

Publication Date

10-1-2022

Journal

Cancer

Abstract

BACKGROUND: Use of surveillance mammography and magnetic resonance imaging (MRI) has been understudied among women with variant of uncertain significance (VUS) compared to pathogenic and likely pathogenic variants (P/LP).

METHODS: Using data from two cancer settings, we calculated use of risk-reducing mastectomy (RRM) and surveillance during each 13-month span after genetic testing up to 6 years afterwards for a cohort of genetically elevated risk women.

RESULTS: Of 889 women, VUS carriers were less likely to undergo RRM compared to those with P/LP (hazard ratio [HR], 0.17; p =

CONCLUSION: The authors found that VUS, whether in high or moderate penetrance breast cancer susceptibility genes, was associated with lower use of annual breast MRI compared to P/LP variants and equivalent use of annual mammography. These results add important evidence regarding VUS-related breast surveillance.

Keywords

Breast Neoplasms, Female, Genetic Predisposition to Disease, Genetic Testing, Heterozygote, Humans, Mammography, Mastectomy, surveillance, variant of uncertain significance, cancer MRI, mammography, breast

Comments

PMID: 35996941