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

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.

Keywords

• |hereditary breast-ovarian cancer syndrome|brca1/2 genes|first-degree relatives|gene screening