Apostol Adriana I, Lim David, Narod Steven A
Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Women's College Hospital, Research and Innovation Institute, Toronto, ON, Canada.
Hered Cancer Clin Pract. 2025 Sep 1;23(1):20. doi: 10.1186/s13053-025-00321-y.
Medullary breast cancer is a rare subtype of invasive breast cancer, representing from 0.2% to 6% of all breast carcinomas, with a higher proportion among women with triple-negative breast cancer and among those with a BRCA1 mutation. This review article aims to investigate the frequency of medullary breast cancer among all breast cancers and to assess its association with BRCA1 mutations. We surveyed studies involving patients diagnosed with breast cancer that report both the histology of the breast cancer as well as the presence of BRCA1 mutations. Among women with medullary breast cancer, the proportion of cases that carry a BRCA1 mutation ranges from 3% up to 35.3%, depending on the study. Among BRCA1-mutated breast cancers, the proportion that are medullary ranges from 8 to 20%. Given the notable association between medullary breast cancer and BRCA1 mutations, we propose to consider medullary breast cancer as a criterion for genetic testing in order to improve the identification of a larger number of carriers, thereby enhancing screening and prevention strategies.
髓样乳腺癌是浸润性乳腺癌的一种罕见亚型，占所有乳腺癌的0.2%至6%，在三阴性乳腺癌患者以及携带BRCA1突变的患者中所占比例更高。这篇综述文章旨在调查所有乳腺癌中髓样乳腺癌的发生率，并评估其与BRCA1突变的关联。我们对涉及诊断为乳腺癌的患者的研究进行了调查，这些研究报告了乳腺癌的组织学以及BRCA1突变的存在情况。在髓样乳腺癌女性患者中，携带BRCA1突变的病例比例根据研究不同，在3%至35.3%之间。在BRCA1突变的乳腺癌中，髓样癌的比例在8%至20%之间。鉴于髓样乳腺癌与BRCA1突变之间存在显著关联，我们建议将髓样乳腺癌作为基因检测的一个标准，以便提高对更多携带者的识别，从而加强筛查和预防策略。
