Geirdal Amy Østertun, Reichelt Jon G, Dahl Alv A, Heimdal Ketil, Maehle Lovise, Stormorken Astrid, Møller Pål
Section for Genetic Counselling, Department of Cancer Genetics, The Norwegian Radium Hospital, 0310 Oslo, Norway.
Fam Cancer. 2005;4(2):121-6. doi: 10.1007/s10689-004-7995-y.
To examine psychological distress in women at risk of familial breast-ovarian cancer (FBOC) or hereditary non-polyposis colorectal cancer (HNPCC) with absence of demonstrated mutations in the family (unknown mutation).
Two-hundred and fifty three consecutive women at risk of FBOC and 77 at risk of HNPCC and with no present or past history of cancer. They were aware of their risk and had received genetic counseling. Comparisons were made between these two groups, normal controls, and women who were identified to be BRCA1 mutation carriers. The questionnaires Beck Hopelessness Scale (BHS), General Health Questionnaire (GHQ-28), Hospital Anxiety and Depression Scale (HADS) and Impact of Event Scale (IES) were employed to assess psychological distress.
No significant differences concerning psychological distress were observed between women with FBOC and women with HNPCC. Compared to mutation carriers for BRCA1, the level of anxiety and depression was significantly higher in the FBOC group with absence of demonstrated mutation. Compared to normal controls, the level of anxiety was higher, while the level of depression was lower in the groups with unknown mutation.
Women in the absence of demonstrated mutations have higher anxiety and depression levels than women with known mutation-carrier status. Access to genetic testing may be of psychologically benefit to women at risk for FBOC or HNPCC.
研究家族性乳腺癌-卵巢癌(FBOC)或遗传性非息肉病性结直肠癌(HNPCC)风险女性且家族中未检测到突变(未知突变)时的心理困扰情况。
连续纳入253名有FBOC风险的女性和77名有HNPCC风险且无癌症现患史或既往史的女性。她们知晓自身风险并接受了遗传咨询。对这两组、正常对照组以及被鉴定为BRCA1突变携带者的女性进行比较。采用贝克绝望量表(BHS)、一般健康问卷(GHQ-28)、医院焦虑抑郁量表(HADS)和事件影响量表(IES)评估心理困扰。
FBOC女性和HNPCC女性在心理困扰方面未观察到显著差异。与BRCA1突变携带者相比,未检测到突变的FBOC组焦虑和抑郁水平显著更高。与正常对照组相比,未知突变组焦虑水平更高,而抑郁水平更低。
未检测到突变的女性比已知突变携带者状态的女性有更高的焦虑和抑郁水平。进行基因检测可能对有FBOC或HNPCC风险的女性在心理上有益。