[遗传性乳腺癌和卵巢癌综合征：诊断及治疗意义]
[Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications].
作者信息
Koual Meriem, Perkins Géraldine, Delanoy Nicolas, Crespel Céline, Medioni Jacques, Nguyen-Xuan Huyên-Thu, Douay-Hauser Nathalie, Blons Hélène, Le Frère-Belda Marie-Aude, Molière Diane, Achen Guillaume, Nos Claude, Balaya Vincent, Montero Rosa, Laurent-Puig Pierre, Bats Anne-Sophie
机构信息
Faculté de médecine Paris-Descartes, université de Paris, Paris, France; Chirurgie cancérologique gynécologique et du sein, APHP centre, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75908 Paris, France; Inserm UMR-S1124, université de Paris, centre universitaire des Saints-Pères, Paris, France.
Équipe labellisée Ligue-Nationale contre le cancer, centre de recherche des cordeliers, Inserm, CNRS, Sorbonne université, USPC, université Paris-Descartes, université Paris-Diderot, Paris, France; Oncogénétique, APHP centre, hôpital européen Georges-Pompidou, Paris, France.
出版信息
Ann Pathol. 2020 Apr;40(2):70-77. doi: 10.1016/j.annpat.2020.01.004. Epub 2020 Feb 8.
Patients who carry the BReast Cancer 1 or 2 (BRCA) gene mutations have an underlying hereditary predisposition for breast and ovarian cancers. These deleterious genetic mutations are the most common ones implicated in hereditary breast and ovarian cancers. Oncogenetic counselling plays a key role in identifying patient for BRCA testing and for mutation identification. BRCA1/2 carriers have to be followed up regularly and may justify breast and/or adnexal prophylactic surgery, according to the French National Cancer Institute guidelines (INCa). Poly- (DNA-riboses) polymerases inhibitors, notably olaparib, have a major role in the management of epithelial ovarian cancer in patients with BRCA mutation and many studies are ongoing to expand their indications in a near future.
携带乳腺癌1号或2号（BRCA）基因突变的患者存在患乳腺癌和卵巢癌的潜在遗传易感性。这些有害的基因突变是遗传性乳腺癌和卵巢癌中最常见的突变类型。肿瘤遗传咨询在确定进行BRCA检测及突变鉴定的患者方面起着关键作用。根据法国国家癌症研究所（INCa）的指南，BRCA1/2基因携带者必须定期接受随访，并且可能需要进行乳房和/或附件预防性手术。聚（DNA-核糖）聚合酶抑制剂，尤其是奥拉帕尼，在BRCA突变患者的上皮性卵巢癌治疗中发挥着重要作用，目前许多研究正在进行，以在不久的将来扩大其适应症。
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