遗传性乳腺癌-卵巢癌综合征患者一级亲属接受基因筛查的现状及影响因素研究

王辉; 王霞; 郜意; 胥婧; 余小娟; 范芳琴; 丁焱; 康玉

doi:10.19401/j.cnki.1007-3639.2023.05.010

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遗传性乳腺癌-卵巢癌综合征患者一级亲属接受基因筛查的现状及影响因素研究

论著 | 更新时间：2025-12-31

- 遗传性乳腺癌-卵巢癌综合征患者一级亲属接受基因筛查的现状及影响因素研究
- Current status and influencing factors of gene screening in first-degree relatives of patients with hereditary breast-ovarian cancer syndrome
- 中国癌症杂志 2023年33卷第5期页码：499-505
- 作者机构：
  
  1. 复旦大学附属妇产科医院妇科，上海 200011
  2. 复旦大学附属妇产科医院临床研究中心，上海 200011
  3. 上海市女性生殖内分泌相关疾病重点实验室，上海 200011
- 作者简介：
  
  [ "王辉（ORCID: 0009-0009-1312-6933），硕士，主管护师。" ]
  康玉（ORCID: 0000-0003-1197-4727），博士，主任医师。
- 基金信息：
  
  上海申康医院发展中心临床科技创新项目(SHDC12020108);上海市老龄化和妇儿健康研究专项(2020YJZX0202)
- DOI：10.19401/j.cnki.1007-3639.2023.05.010
  中图分类号： R737.9
- 收稿：2022-12-09，
  
  修回：2023-04-27，
  
  纸质出版：2023-05-30
- 稿件说明：
移动端阅览
王辉, 王霞, 郜意, 等. 遗传性乳腺癌-卵巢癌综合征患者一级亲属接受基因筛查的现状及影响因素研究[J]. 中国癌症杂志, 2023,33(5):499-505.

Hui WANG, Xia WANG, Yi GAO, et al. Current status and influencing factors of gene screening in first-degree relatives of patients with hereditary breast-ovarian cancer syndrome[J]. China Oncology, 2023, 33(5): 499-505.
王辉, 王霞, 郜意, 等. 遗传性乳腺癌-卵巢癌综合征患者一级亲属接受基因筛查的现状及影响因素研究[J]. 中国癌症杂志, 2023,33(5):499-505. DOI： 10.19401/j.cnki.1007-3639.2023.05.010.

Hui WANG, Xia WANG, Yi GAO, et al. Current status and influencing factors of gene screening in first-degree relatives of patients with hereditary breast-ovarian cancer syndrome[J]. China Oncology, 2023, 33(5): 499-505. DOI： 10.19401/j.cnki.1007-3639.2023.05.010.

摘要

背景与目的：

携带

BRCA

1/2基因胚系突变的女性终生罹患卵巢癌、乳腺癌和其他癌症的风险增加，早期识别此部分高风险人群，并采取针对性的风险管理方案对降低癌症的发病率和死亡率非常重要，本研究旨在分析携带

BRCA

1/2基因胚系突变的遗传性乳腺癌-卵巢癌综合征（hereditary breast-ovarian cancer syndrome，HBOC）患者一级亲属接受基因筛查的现状及影响因素。

方法：

采用便利抽样法选取2021年2月—2022年4月在复旦大学附属妇产科医院就诊的72例已确诊

BRCA

1/2基因胚系突变的HBOC女性患者及其316名一级亲属，采用问卷调查法了解HBOC患者一级亲属是否接受基因筛查的现状；并采用logistic回归分析相关的影响因素。

结果：

在72例HBOC女性患者中，93.1%（

=67）将基因筛查结果传达给了她们的一级亲属。在18岁以上的一级亲属中，32.3%（

=102）决定进行基因筛查和遗传风险管理。Logistic回归分析显示，患者疾病类型、卵巢癌国际妇产科联盟（International Federation of Gynecology and Obstetrics，FIGO）分期、受教育程度、一级亲属性别、受教育程度及患者与亲属的情感亲密度是一级亲属是否愿意接受基因筛查和遗传风险管理的显著影响因素（

0.05）。

结论：

HBOC患者一级亲属接受基因筛查的现状不容乐观。鉴于乳腺癌患者、文化程度较低的患者，男性亲属、文化程度较低的亲属及与患者情感亲密度较低的亲属接受基因筛查的概率较低，我们应采取针对性的干预措施提高这部分亲属的自我基因筛查行为。

Abstract

Background and purpose:

Carriers

BRCA

1/2 gene germline mutations have an increased lifetime risk of ovarian

breast and other cancers. Early identification of these high-risk groups and targeted risk management programs are important for reducing cancer morbidity and mortality. The aim of this study was to analyze the genetic screening status and influencing factors of first-degree relatives of patients with hereditary breast-ovarian cancer syndrome (HBOC) with

BRCA

1 and

BRCA

2 gene germline mutations.

Methods:

A convenient sampling method was used to select 72 HBOC female patients with

BRCA

1/2 gene germline mutations and 316 first-degree relatives who had been diagnosed in the Obstetrics and Gynecology Hospital affiliated to Fudan University from February 2021 to April 2022

and a questionnaire survey was used to find out whether the first-degree relatives of HBOC patients accepted gene screening. Logistic regression was used to analyze the relevant influencing factors.

Results:

Among 72 female patients with HBOC

93.1% (

=67) conveyed the results of gene screening to their first-degree relatives. Among first-degree relatives over age of 18

32.3% (

=102) decided to carry out gene screening and genetic risk management. Logistic regression analysis showed that the disease type of patients

International Federation of Gynecology and Obstetrics (FIGO) stage of ovarian cancer

education level

first-degree relatives gender

education level and emotional intimacy between patients and relatives were significant factors affecting whether first-degree relatives were willing to accept genetic screening and genetic risk management (

0.05).

Conclusion:

The current situation of gene screening for first-degree relatives of HBOC patients is not optimistic. For breast cancer patients

patients with lower education

male relatives

relatives with lower education and relatives with lower emotional c

loseness to patients

the probability of receiving gene screening is lower. We should apply targeted interventions to improve the self-gene screening behavior of these relatives.

关键词

Keywords

references

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