Application of genetic counseling and preventive surgery in hereditary breast-ovarian cancer syndrome based on a rare family.
10.3760/cma.j.cn112152-20211108-00825
- VernacularTitle:基于罕见家系探讨遗传咨询与预防性手术在遗传性乳腺癌-卵巢癌综合征中的实施要点
- Author:
Shuang Huan LIU
1
;
Lin DONG
2
;
Bin LI
1
;
Dan ZHAO
1
;
Jian Ming YING
2
Author Information
1. Department of Gynecologic Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
2. Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.
- Publication Type:Journal Article
- Keywords:
BRCA genes;
Genetic counseling;
Hereditary breast and ovarian cancer syndrome;
Ovarian neoplasm;
Prophylactic surgical procedures
- MeSH:
Humans;
Female;
Middle Aged;
Adult;
Genetic Counseling;
Genetic Predisposition to Disease;
Breast Neoplasms/surgery*;
Ovarian Neoplasms/surgery*;
Mutation
- From:
Chinese Journal of Oncology
2023;45(9):796-802
- CountryChina
- Language:Chinese
-
Abstract:
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.
