Abstract
Background: Genetic testing is increasing in patients newly diagnosed with cancer. This study investigated the levels, course and predictors of cancer-related distress, defined as intrusion and avoidance, in women undergoing BRCA1/2 testing without pretest genetic counseling shortly after a diagnosis of breast or ovarian cancer.Material and methods: Unselected for family history or age, 259 women with breast cancer and 50 women with ovarian cancer, underwent BRCA1/2 testing shortly after diagnosis. Cancer-related distress was measured with the Impact of Event Scale before and after genetic testing. In order to identify predictors of distress, the subscale scores were regressed on baseline predictor variables including sociodemographic and medical variables, perceived social support, and decisional conflict regarding genetic testing.Results: The mean levels of intrusion and avoidance were in the moderate range both before and after genetic testing with a statistically significant decline during follow-up. Younger age, shorter time since diagnosis, lower levels of social support, and a diagnosis of ovarian cancer predicted higher levels of both intrusion and avoidance. In addition, higher levels of decisional conflict and living with a partner predicted higher levels of intrusion.Conclusions: Women having genetic testing shortly after a diagnosis of breast or ovarian cancer had a moderate mean level of cancer-related distress, which decreased with time. Health personnel offering genetic testing to newly diagnosed women with breast or ovarian cancer should be aware of the potential predictors for increased cancer-related distress identified in this study: younger age, less perceived social support, higher levels of decisional conflict regarding genetic testing, and living with a partner.
Highlights
Cancer constitutes a major health problem and is the second leading cause of death globally [1]
Since Paper I was published before all respondents had answered the questionnaires at T3, the Hospital Anxiety and Depression Scale (HADS) analyses in Paper I were based on a smaller subset of participants (N=215)
5.2.3 BRCA variants with reduced penetrance In Paper III, we showed that BReast CAncer 1 gene (BRCA1) c.5407-25T>A causes aberrant splicing and a premature stop codon leading to a truncated BRCA1 protein with loss of the important BRCA1 C-terminal (BRCT) domain
Summary
Cancer constitutes a major health problem and is the second leading cause of death globally [1]. It is important to identify these patients because the presence of such germline variants affects treatment, follow-up and further cancer prevention in patients with breast or ovarian cancer.. It is important to identify these patients because the presence of such germline variants affects treatment, follow-up and further cancer prevention in patients with breast or ovarian cancer.9,10 It may strongly influence upon their close relatives, as BRCA1/2 testing can identify healthy BRCA1/2 mutation carriers at high risk and thereby prevent cancer and cancer-related deaths through increased surveillance and prophylactic surgery.. The most common current practice of BRCA1/2 testing is based on referral of suspected high-risk patients to clinical genetics services for specialized face-to-face genetic counselling. This procedure traditionally includes collection and confirmation of family history, risk assessment and eventually BRCA1/2 testing followed by a post-test counselling with dissemination of test results and advice concerning surveillance and follow-up. Based on family history, BRCA1/2negative families with increased risk of familial breast cancer can be identified.
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