[遗传咨询和预防性手术在基于罕见家族的遗传性乳腺癌癌症综合征中的应用]。

Q3 Medicine
S H Liu, L Dong, B Li, D Zhao, J M Ying
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引用次数: 0

摘要

目的:探讨遗传性癌症综合征(HBOCS)家族的遗传、临床和病理特征,探讨遗传咨询和预防性手术的实施。方法:选择癌症医院/中国医学科学院4例HBACS兄弟姐妹为研究对象。进行BRCA基因检测和遗传咨询,追踪家族史并绘制家族图谱。结果:癌症家族3代共7例(Ⅰ2、Ⅱ4、Ⅱ8、Ⅲ7、Ⅲ10、Ⅲ11、Ⅲ12)。1例(Ⅲ7)先后患癌症和癌症。第一代(Ⅰ2)60岁患癌症,第二代(Ⅱ4和Ⅱ8)55岁患癌症。第三代(Ⅲ7、Ⅲ10、Ⅲ11、Ⅲ12)发生癌症,年龄42~50岁。四名HBOCS患者在我们医院接受了治疗,他们都被发现有有害的BRCA1突变。2例已发生卵巢癌症(Ⅲ10,Ⅲ12),1例(Ⅲ11)在预防性全子宫切除术中发现输卵管癌,在补充分期手术后发现盆腔淋巴结转移。另一例无癌症患者行预防性双侧输卵管切除术(Ⅲ15)。结论:本研究报道的HBOCS家族相对罕见,肿瘤的发病时间是一代比一代年轻。重视卵巢癌症患者的基因咨询,及时发现HBOCS家族进行基因检测和预防性手术是非常重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Application of genetic counseling and preventive surgery in hereditary breast-ovarian cancer syndrome based on a rare family].

Objective: To investigate the genetic, clinical and pathological characteristics of families with hereditary breast-ovarian cancer syndrome (HBOCS) and to explore the implementation of genetic counseling and preventive surgery. Methods: Four siblings with HBOCS in Cancer Hospital/Chinese Academy of Medical Sciences were selected as the study subjects. BRCA gene testing and genetic counseling were performed, family history was traced and family map was drawn. Results: There were 7 cancer patients (Ⅰ 2, Ⅱ 4, Ⅱ 8, Ⅲ 7, Ⅲ 10, Ⅲ 11, Ⅲ 12) in three generations in the family. One patient (Ⅲ 7) had breast cancer and ovarian cancer successively. The first generation (Ⅰ 2) developed cancer at age 60, the second generation (Ⅱ4 and Ⅱ8) developed cancer at 55. The third generation (Ⅲ 7, Ⅲ 10, Ⅲ 11, Ⅲ 12) developed cancer at the age of 42-50 years. Four HBOCS patients were treated in our hospital, and all of them were found to have deleterious BRCA1 mutation. Two had already developed ovarian cancer (Ⅲ 10, Ⅲ 12), while in one case (Ⅲ 11), tubal carcinoma was found during preventive total hysterectomy and pelvic lymph node metastasis was found after the supplementary staging surgery. The other patient without cancer underwent preventive bilateral salpingectomy(Ⅲ 15). Conclusion: The HBOCS family reported in this study is relatively rare, the onset time of tumor was younger generation by generation. It is very important to pay attention to the genetic counseling of ovarian cancer patients and to timely detect the HBOCS families for genetic testing and prophylactic surgery.

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来源期刊
中华肿瘤杂志
中华肿瘤杂志 Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
10433
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