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

doi:10.19401/j.cnki.1007-3639.2023.05.010

中国癌症杂志 ›› 2023, Vol. 33 ›› Issue (5): 499-505.doi: 10.19401/j.cnki.1007-3639.2023.05.010

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¹(), 王霞¹, 郜意¹, 胥婧¹, 余小娟², 范芳琴¹, 丁焱¹, 康玉¹^,³()

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

收稿日期:2022-12-09 修回日期:2023-04-27 出版日期:2023-05-30 发布日期:2023-06-16
通信作者: 康玉（ORCID: 0000-0003-1197-4727），博士，主任医师。
作者简介:王辉（ORCID: 0009-0009-1312-6933），硕士，主管护师。
基金资助:
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)

Current status and influencing factors of gene screening in first-degree relatives of patients with hereditary breast-ovarian cancer syndrome

WANG Hui¹(), WANG Xia¹, GAO Yi¹, XU Jing¹, YU Xiaojuan², FAN Fangqin¹, DING Yan¹, KANG Yu¹^,³()

1. Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China
2. Clinical Research Center, Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011, China
3. Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200011, China

Received:2022-12-09 Revised:2023-04-27 Published:2023-05-30 Online:2023-06-16
Contact: KANG Yu

摘要/Abstract

摘要：

背景与目的：携带BRCA1/2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BRCA1/2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BRCA1/2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%（n=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%（n=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（P<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。

关键词: 遗传性乳腺癌-卵巢癌综合征, BRCA1/2基因, 一级亲属, 基因筛查

Abstract:

Background and purpose: Carriers of BRCA1/2 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 BRCA1 and BRCA2 gene germline mutations. Methods: A convenient sampling method was used to select 72 HBOC female patients with BRCA1/2 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% (n=67) conveyed the results of gene screening to their first-degree relatives. Among first-degree relatives over age of 18, 32.3% (n=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 (P<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 closeness 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.

Key words: Hereditary breast-ovarian cancer syndrome, BRCA1/2 genes, First-degree relatives, Gene screening

中图分类号:

R737.9

王辉, 王霞, 郜意, 胥婧, 余小娟, 范芳琴, 丁焱, 康玉. 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.

WANG Hui, WANG Xia, GAO Yi, XU Jing, YU Xiaojuan, FAN Fangqin, DING Yan, KANG Yu. 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.

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参考文献 25

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Characteristic	Number of patients whose relatives have decided to undergo genetic screening (n=25)	Number of patients whose relatives have not decided to undergo genetic screening (n=42)	χ²/F value	P value
Age/year $\bar{x}$±s	42.50±3.90	47.08±4.73	0.831	0.701
Time of illness/month $\bar{x} $±s	7.20±0.73	9.03±1.34	0.763	0.301
Education level			10.407	<0.001
High school or below	6 (24.00)	28 (66.67)
Junior college	10 (40.00)	10 (23.81)
Bachelor degree or above	9 (36.00)	4 (9.52)
Gene mutation type			9.131	0.133
BRCA1	15 (60.00)
BRCA2	10 (40.00)
Disease type			1.476	0.023
Breast cancer	5 (20.00)	10 (23.81)
Ovarian cancer	17 (68.00)	30 (71.43)
Breast cancer+ovarian cancer	3 (12.00)	2 (4.76)
Staging of breast cancer			0.764	0.062
Ⅰ-Ⅱ	3 (37.50)	7 (58.33)
Ⅲ-Ⅳ	5 (62.50)	5 (41.67)
FIGO staging of ovarian cancer			2.143	<0.001
Ⅰ-Ⅱ	3 (15.00)	13 (40.63)
Ⅲ-Ⅳ	17 (85.00)	19 (59.38)

Characteristic	Number of the first-degree relatives have decided to undergo genetic screening (n=102)	Number of the first-degree relatives have not decided to undergo genetic screening (n=214)	χ²/F value	P value
Age/year $\bar{x}$±s	28.31±5.47	35.63±4.26	2.343	0.039
Gender			3.564	0.011
Female	62 (60.78)	98 (45.79)
Male	40 (39.22)	116 (54.21)
Marital status			0.876	0.342
Married	79 (77.45)	157 (73.36)
Unmarried	23 (22.55)	57 (26.64)
Divorce	0 (0.00)	0 (0.00)
Education level			2.083	0.039
High school or below	11 (10.78)	74 (34.58)
Junior college	48 (47.06)	89 (41.59)
Bachelor degree or above	43 (42.16)	51 (23.83)
Career			3.874	0.051
Administrative management	14 (13.73)	67 (31.31)
Professional technology	28 (27.45)	51 (23.83)
Education	9 (8.82)	21 (9.81)
Business services	17 (16.67)	33 (15.42)
Worker	6 (5.89)	2 (0.93)
Individual	21 (20.59)	17 (7.94)
Other	7 (6.86)	23 (10.75)
Overall relationship score $\bar{x} $±s	8.89±1.74	6.79±0.92	0.128	0.076
Intimacy score $\bar{x} $±s	7.13±1.35	5.91±1.78	3.677	0.011
Communication frequency/month $\bar{x} $±s	2.86±2.11	1.84±1.03	1.127	0.210
Communication methods			0.492	0.676
Face to face	33 (32.35)	46 (21.50)
Video	49 (48.04)	74 (34.58)
Telephone	20 (9.35)	94 (43.93)
Geographical distance			12.452	0.061
Same city	79 (77.45)	97 (45.33)
Different cities	23 (22.55)	117 (54.67)

Argument	β	SE	χ² value	P value	OR	95% CI
Disease type	-0.862	0.125	1.353	<0.001
FIGO staging of ovarian cancer	2.336	0.853	0.431	<0.001	0.262	0.071-0.729
Patient education level
High school or below	0.841	0.521	5.372	0.001	2.103	0.086-0.157
Junior college	-0.241	2.341	0.012	0.042	0.884	0.672-0.843
Bachelor degree or above	1.109	0.852	-2.731	<0.001	0.104	0.075-0.932
Emotional intimacy	0.436	0.071	4.871	<0.001	0.267	0.075-0.822
Gender of the first-degree relatives	1.031	0.325	6.931	<0.001	4.217	1.691-10.554
Age of the first-degree relatives	-10.542	7.537	-1.180	0.056	0.119	0.019-0.815
Education level of the first-degree relatives
High school or below		4.631	1.226	0.002
Junior college	-5.831	0.632	2.361	<0.001	1.002	1.162-7.842
Bachelor degree or above	15.324	8.102	0.731	<0.001	0.031	0.015-0.743

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

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