Seca Marta, Narod Steven A
Department of Medicine and Surgery, University Milan-Bicocca, Piazza dell 'Ateneo Nuovo, Milan, Italy.
Women's College Research Institute, Women's College Hospital, 76 Grenville Street, Toronto, ON, M5S 1B2, Canada.
Hered Cancer Clin Pract. 2024 Nov 14;22(1):26. doi: 10.1186/s13053-024-00300-9.
Genetic testing for breast cancer predisposing genes has expanded beyond BRCA1 and BRCA2 and now includes panels of 20 or more genes. It is now recommended that all women diagnosed with breast cancer at age 65 or below be offered testing for an extended gene panel. The rationale for testing includes personalizing the management of breast cancer according to the mutation found. For BRCA1 and BRCA2 carriers, the finding of a mutation has clear implications for cancer management, but for other genes, such as ATM, the management implications are less clear. Women with an ATM mutation have a lifetime risk of breast cancer of approximately 25%, the majority of which are ER-positive. The risk of ovarian cancer is approximately 5%. It is not yet clear how the identification of an ATM mutation in a patient newly diagnosed with breast cancer should impact on her treatment and follow-up. At present, these women are treated in the same way as women without a mutation. It is important that large prospective studies be conducted looking at various treatment modalities in women with breast cancer and an ATM mutation in order to optimize outcomes.
乳腺癌易感基因的基因检测已从BRCA1和BRCA2扩展到现在包括20个或更多基因的基因组合。现在建议对所有65岁及以下被诊断为乳腺癌的女性进行扩展基因组合检测。检测的理由包括根据发现的突变对乳腺癌进行个性化管理。对于BRCA1和BRCA2携带者，突变的发现对癌症管理有明确的影响，但对于其他基因，如ATM，其管理影响尚不清楚。携带ATM突变的女性患乳腺癌的终生风险约为25%，其中大多数为雌激素受体阳性。卵巢癌风险约为5%。目前尚不清楚在新诊断为乳腺癌的患者中发现ATM突变应如何影响其治疗和随访。目前，这些女性的治疗方式与未发生突变的女性相同。开展大型前瞻性研究，观察患有乳腺癌且携带ATM突变的女性的各种治疗方式，以优化治疗效果，这一点很重要。
