Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California, USA.
Samuel Oschin Cancer Center, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Mol Genet Genomic Med. 2022 Oct;10(10):e2031. doi: 10.1002/mgg3.2031. Epub 2022 Aug 25.
Women harboring mutations in breast cancer susceptibility genes are at increased lifetime risk of developing breast cancer and are faced with decisions about risk management, including whether to undergo high-risk screening or risk-reducing mastectomy (RRM). National guidelines recommend BRCA1 or BRCA2 mutation carriers consider RRM, but that carriers of moderate penetrance mutations (e.g., ATM or CHEK2) should be managed based on family history. We aimed to investigate determinants of decision for RRM, and hypothesized that mutation status, age, family history, partner status, and breast cancer would impact RRM decision making.
We performed a retrospective study assessing RRM decisions for 279 women.
Women with BRCA and moderate penetrance gene mutations, a personal history of breast cancer, or a first degree relative with a history of breast cancer were more likely to undergo RRM. Breast cancer status and age showed an interaction effect such that women with breast cancer were less likely to undergo RRM with increasing age.
Although national guidelines do not recommend RRM for moderate penetrance carriers, the rates of RRM for this population approached those for BRCA mutation carriers. Further insights are needed to better support RRM decision-making in this population.
携带有乳腺癌易感基因突变的女性终生患乳腺癌的风险增加，需要做出风险管理决策，包括是否进行高风险筛查或降低风险的乳房切除术 (RRM)。国家指南建议 BRCA1 或 BRCA2 基因突变携带者考虑 RRM，但中度外显率突变（如 ATM 或 CHEK2）携带者应根据家族史进行管理。我们旨在研究 RRM 决策的决定因素，并假设突变状态、年龄、家族史、伴侣状况和乳腺癌会影响 RRM 决策。
我们进行了一项回顾性研究，评估了 279 名女性的 RRM 决策。
携带有 BRCA 和中度外显率基因突变、个人乳腺癌病史或一级亲属有乳腺癌病史的女性更有可能进行 RRM。乳腺癌状况和年龄表现出相互作用效应，即随着年龄的增长，患有乳腺癌的女性进行 RRM 的可能性降低。
尽管国家指南不建议对中度外显率携带者进行 RRM，但该人群的 RRM 率接近 BRCA 基因突变携带者。需要进一步深入了解，以更好地支持该人群的 RRM 决策。
