Quillin John M, Bodurtha Joann N, McClish Donna, Wilson Diane Baer
Department of Human & Molecular Genetics and Massey Cancer Center, Virginia Commonwealth University, 1101 E. Marshall St, Richmond, VA 23298-0033, USA.
J Genet Couns. 2011 Apr;20(2):157-64. doi: 10.1007/s10897-010-9336-7. Epub 2010 Dec 4.
This study explored relationships between worry, perceived risk for breast cancer, consulting a genetic counselor, having genetic testing, and genetic risk for women whose mothers had breast cancer. Analyses involved data from a community-based phone survey of women whose mothers had breast cancer. Participants were categorized as having low, intermediate, or high genetic risk based on their reported family history, in accordance with an accepted classification scheme. The Lerman Breast Cancer Worry Scale measured worry, and participants reported their perceived lifetime likelihood of breast cancer, risk compared to others, and chance from 1 to 100. ANOVA, chi-square, and multiple regression analyses were conducted as appropriate. One hundred-fifty women participated. Mean age was 38 years, and 81% were Caucasian. Fifty-two women had low, 74 had intermediate, and 24 had high genetic risk for breast cancer. There were no significant differences in worry or perceived risk by hereditary risk category. Most high-risk women (91%) had not spoken with a genetic counselor, and no one had previous genetic testing. These findings suggest perceived risk, worry about breast cancer, and use of expert consultation do not match the genetic contribution to risk. There is a need for effectively stratifying and communicating risk in the community and providing tailored reassurance or referral for high-risk assessment.
本研究探讨了母亲患有乳腺癌的女性在担忧、感知到的患乳腺癌风险、咨询遗传咨询师、进行基因检测以及基因风险之间的关系。分析涉及对母亲患有乳腺癌的女性进行的一项基于社区的电话调查数据。根据公认的分类方案,参与者根据其报告的家族病史被分为低、中、高基因风险类别。使用莱尔曼乳腺癌担忧量表来测量担忧程度,参与者报告了他们认为自己一生中患乳腺癌的可能性、与他人相比的风险以及从1到100的概率。酌情进行了方差分析、卡方分析和多元回归分析。150名女性参与了研究。平均年龄为38岁,81%为白种人。52名女性有低基因风险,74名有中等基因风险,24名有高基因风险患乳腺癌。不同遗传风险类别的担忧程度或感知风险没有显著差异。大多数高风险女性(91%)没有与遗传咨询师交谈过,也没有人进行过基因检测。这些发现表明,感知到的风险、对乳腺癌的担忧以及专家咨询的使用与基因对风险的影响不匹配。有必要在社区中有效地对风险进行分层和沟通,并为高风险评估提供量身定制的安慰或转诊服务。