Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer.

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2023-12-01 Epub Date: 2023-09-19 DOI:10.1007/s12687-023-00671-x
Silvia Actis, Marta D'Alonzo, Luca Pace, Serena Mucciacito, Valentina Elisabetta Bounous, Luca Giuseppe Sgrò, Matteo Mancarella, Annamaria Ferrero, Nicoletta Biglia
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引用次数: 0

Abstract

BRCA1/2 mutations account for 5 to 10% of breast and 15% of ovarian cancers. Various guidelines on BRCA1/2 genetic counseling and testing have been issued, and the criteria have evolved over the years. Oncogenetic counseling aims to inform patients about the possibility and implications of undergoing predictive testing and risk management programs. We analyzed a cohort of 50 subjects with a previous personal history of breast or ovarian cancer who had not been tested for BRCA1/2 mutations at the time of diagnosis but were found eligible according to the most recent guidelines. All patients were offered pre-test oncogenetic counseling and BRCA1/2 genetic testing. The mean time from cancer diagnosis to genetic counseling was over 10 years. We analyzed socio-demographic and psychological parameters associated with the decision to undergo BRCA1/2 genetic testing or the reasons behind the withdrawal. Thirty-nine patients underwent BRCA1/2 genetic testing. Patients who accept the genetic test communicate more easily with family members than those who refuse. Factors associated with test refusal are having a long-term partner and having a negative perception of life. There is a trend, although not statistically significant, toward younger age at cancer diagnosis, more likely to participate in cancer screening programs (71.8% vs. 45.5%), and more likely to have daughters (63.3% vs. 37.5%) in the group that accepted the test. The offer of BRCA testing was well accepted by our study population, despite the many years since the cancer diagnosis. With the perspective of further broadening the access criteria to genetic testing, it is important to understand how to best approach pre-test counseling in long-surviving patients with a previous diagnosis of cancer.

既往诊断为乳腺癌或卵巢癌症的长期存活患者进行致癌咨询后坚持BRCA1/2突变检测的相关因素。
BRCA1/2突变在乳腺癌中占5%至10%,在卵巢癌中占15%。BRCA1/2基因咨询和检测的各种指南已经发布,多年来标准也在不断发展。肿瘤遗传咨询旨在告知患者接受预测性检测和风险管理计划的可能性和影响。我们分析了一组50名有癌症个人病史的受试者,他们在诊断时没有进行BRCA1/2突变检测,但根据最新指南,符合条件。所有患者都接受了检测前致癌咨询和BRCA1/2基因检测。从癌症诊断到基因咨询的平均时间超过10年。我们分析了与决定接受BRCA1/2基因检测相关的社会人口统计学和心理参数或退出的原因。39名患者接受BRCA1/2基因检测。接受基因测试的患者比拒绝的患者更容易与家人沟通。与拒绝测试相关的因素包括有长期伴侣和对生活的负面看法。在接受检测的人群中,癌症诊断年龄越小,参与癌症筛查项目的可能性越大(71.8%对45.5%),生女儿的可能性越高(63.3%对37.5%),尽管没有统计学意义。尽管诊断为癌症已经很多年了,但BRCA检测的提议还是被我们的研究人群所接受。从进一步扩大基因检测准入标准的角度来看,了解如何在长期存活的癌症既往诊断患者中最好地进行检测前咨询是很重要的。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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