与卵巢癌有关的遗传因素

R. Ursu, Radu Alexandru Truica, Alexandra Cojocaru, Diana Prepelita, L. Pop, V. Rădoi, N. Bacalbaşa, I. Bălescu
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摘要

卵巢癌是最常见的妇科恶性肿瘤类型,目前在全球不同癌症中排名第五。据估计,卵巢癌占所有新发癌症病例的1.3%。卵巢癌被认为是一种异质性的恶性肿瘤,由于诊断晚,治疗反应低,预后较差。卵巢癌有几种类型:上皮性卵巢癌、种系细胞卵巢癌和基质细胞卵巢癌。上皮性卵巢癌占卵巢恶性肿瘤的90%以上,包括高级别浆液性癌(HGSOC)、低级别浆液性癌(LGSOC)、子宫内膜样癌、粘液性癌和透明细胞癌。其中,HGSOC是最常见的组织学亚型。大多数卵巢癌的诊断处于疾病晚期,这是目前治疗方法死亡率高、预后差的原因之一。有几个方面会增加患卵巢癌的风险,包括遗传因素,如年龄、绝经后激素治疗的使用、不孕和不孕。在遗传因素中,最常见的是BRCA1和BRCA2,约占患者的17%。这些突变也会增加患其他癌症的风险,比如乳腺癌、胰腺癌、前列腺癌和黑色素瘤。BRCA1和brca2是参与DNA修复和维护的基因。其他具有类似功能的基因有RAD511C、RAD51D、BRIP1、PALB2、CHEK2、MRE11A、RAD50、ATM和TP53。
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Genetic factors involved in ovarian cancer
Ovarian cancer is the most frequent type of gynecologic malignancy and is currently on the fifth place among different cancers worldwide. According to the estimations, ovarian cancer accounts for 1.3% of all new cancer cases. Ovarian cancer is considered a heterogeneous class of malignancies with a poor prognosis due to late diagnose and low treatment response. There are few types of ovarian cancer: epithelial ovarian cancer, germline cell ovarian cancer and stromal cell ovarian cancer. Epithelial ovarian cancers represent more than 90% of ovarian malignancies, and comprise high-grade serous carcinoma (HGSOC), low-grade serous carcinoma (LGSOC), endometrioid carcinoma, mucinous carcinoma, and clear cell carcinoma. Of these, HGSOC is the most frequent histological subtype. The diagnosis of most of OC cases, at an advanced disease stage is one of the reasons for high fatality rate and carries poor prognosis with current therapies. Several aspects can increase the risk of developing ovarian cancer, including genetic factors, such as age, postmenopausal hormonal therapy use, infertility and nulliparity. Among the genetic factors, most commonly we encounter BRCA1 and BRCA2, at approximately 17% of patients. Also these mutation rise the risk for another cancers like breast cancer, pancreatic cancer, prostatic cancer and melanoma. BRCA1 and 2 are genes involved in DNA repair and maintenance. Other genes that have a similar function are RAD511C, RAD51D, BRIP1, PALB2, CHEK2, MRE11A, RAD50, ATM and TP53.
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