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

doi:10.19401/j.cnki.1007-3639.2023.05.010

Abstract

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

CLC Number:

R737.9

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.

Figures/Tables 3

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References 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