Factors That Impact Risk Management Decisions Among Women With Pathogenic Variants in Moderate Penetrance Genes Associated With Hereditary Breast Cancer

Melissa Napoli 1 2, Jaime Lewis 3, Jennifer Hopper 1, Kimberly Widmeyer 1

Affiliations

PMID: 32012395
DOI: 10.1002/jgc4.1220

Abstract

There is limited information known about how women with pathogenic variants (PV) in moderate penetrance genes make decisions to manage their increased risk of breast cancer. This study analyzed factors that may impact decision-making surrounding management for increased breast cancer risk. Women with a PV in a moderate penetrance gene associated with increased risk for breast cancer were identified from an institutional database. Semi-structured, qualitative interviews were conducted to analyze decision-making factors. Themes were developed using deductive codes based on previous literature and inductive codes based on interviewee responses. The 16 participants (mean age = 55.9 years) included 12 women with a breast cancer diagnosis. Six women (37.5%) chose bilateral mastectomy (BM), and 10 women (62.5%) chose surveillance as management. Of the 12 women with a personal history of breast cancer, four chose to have BM (33.3%). Two women without a personal history of breast cancer chose to have BM (50.0%). Transcriptions revealed seven comprehensive themes, as well as themes unique to affected and unaffected women (Cohen's kappa = 0.80). Physician opinion was the only factor present in all interviews reported to influence risk management decision-making. Several themes were consistent with prior BRCA1/BRCA2 research (family history, risk perception, sibling influence, and physician opinions). Autonomy and insurance/finances were also important factors to participants. There were certain differences in decision-making factors between affected and unaffected women, such as partner influence. Results indicate an opportunity for providers to engage their patients in a decision-making process.

Keywords: bilateral mastectomy; breast surveillance; decision-making; genetic testing; hereditary breast cancer; management outcomes; risk management.