Piombino Claudia, Cortesi Laura, Lambertini Matteo, Punie Kevin, Grandi Giovanni, Toss Angela
Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy.
Department of Medical Oncology, U.O.C Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
J Oncol. 2020 Jul 14;2020:6384190. doi: 10.1155/2020/6384190. eCollection 2020.
BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include in Li-Fraumeni syndrome, in Cowden syndrome, mismatch repair () genes in Lynch syndrome, in diffuse gastric cancer syndrome, in Peutz-Jeghers syndrome, and in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with and in the double-strand break repair system, such as , , , , , and . Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.
与BRCA1和BRCA2相关的遗传性乳腺癌和卵巢癌综合征是最广为人知且研究最为广泛的遗传性癌症综合征。然而，许多BRCA基因检测呈阴性的患者在与遗传性乳腺癌和/或卵巢癌相关的其他抑癌基因和癌基因中携带致病突变。这些基因包括李-佛美尼综合征中的 ，考登综合征中的 ，林奇综合征中的错配修复（）基因，弥漫性胃癌综合征中的 ，黑斑息肉综合征中的 ，以及1型神经纤维瘤病综合征中的 。除此之外，还有其他几个基因可添加进来，它们在双链断裂修复系统中与 和 共同发挥作用，例如 、 、 、 、 、 和 。对这些遗传性癌症综合征进行原发性和继发性癌症预防的管理至关重要。特别是，通过筛查进行的二级预防旨在在癌前病变或癌症的初始阶段将其发现，因为早期检测可实现有效治疗并完全康复。本综述旨在总结现有文献，并为除BRCA之外的遗传性乳腺癌和/或卵巢癌综合征提出适当的筛查策略。
