Objectives Most studies of quality of life following risk-reducing bilateral salpingo -oophorectomy (RRSO) and mastectomy (RRM) for inherited breast and ovarian cancer susceptibility were conducted before counseling protocols were established and included women at varying times since surgery. This study aimed to overcome these deficiencies and to provide current data on outcomes for this growing group of women.Methods Semi-structured interviews were used to explore the experiences of an Australian cohort of 40 high-risk women three years after they underwent RRM and/or RRSO. Data were analyzed using the method of constant comparison.Results Nineteen women underwent RRSO, 8 RRM and 13 both procedures. Two themes -looking different and feeling different -captured the psychosocial impact of surgery upon interviewees. All were relieved at having the risk of cancer substantially reduced that had previously been embodied in their breasts and ovaries; however, reducing risk by removing these body parts is not without costs. Interviewees reported experiencing a range of negative emotions and a range of unexpected bodily sensations following surgery and reflected upon both positive and negative changes in their appearance. Women said they had been unprepared for the lack of sensation in reconstructed breasts and/or the severity of menopausal symptoms, which often had a negative impact upon sexuality. ConclusionsAlthough women who undergo RR surgery are informed about its sequelae, however, few are entirely prepared for the reality of undergoing this procedure. We recommend that women who undergo these procedures should be provided with psychosocial support before and after RR surgery.

Risk comprehension in individuals at increased familial risk of cancer is suboptimal and little is known about how risk is understood and managed by at-risk individuals who do not undergo genetic testing. We qualitatively studied these issues in 36 unaffected women from high-risk breast cancer families, including both women who had and had not undergone genetic testing. Data were collected through semi-structured interviews and data analysis was guided by Grounded Theory. Risk comprehension and risk management were largely influenced by the individual's experience of coming from a high-risk family, with both tested and untested women relying heavily on their intuition. Although women's cognitive understanding of their risk appeared generally accurate, this objective risk information was considered of secondary value. The findings could be used to guide the development and delivery of information about risk and risk management to genetically tested and untested individuals at increased risk of hereditary cancer.

Fatalism has been associated with non-adherence to health behavior in the past. This study compared fatalism of Chinese and Korean immigrants with native-born Caucasians (N = 309) and examined whether the relationship between fatalism and exercise, nutrition and medical screening would be moderated by ethnicity. Chinese reported higher fatalism than Caucasians and Koreans. Higher fatalism was associated with greater exercise among Chinese and Koreans, but less reported exercise among Caucasians. Caucasian participants had higher scores for nutrition and medical screening compared with Chinese and Korean immigrants. These findings indicate that fatalism is more prevalent among Chinese immigrants; however, there is no evidence of a detrimental effect of fatalism on exercise, nutrition or medical screening among the Asian immigrants. Caucasians with higher fatalism may be at greater risk of future illnesses, given the association between fatalism and sedentary behavior in this group. Differences between cultural groups in the adoption of health behavior justify the development and assessment of targeted interventions to optimize health promoting behaviors.

Purpose: To prospectively investigate long-term psychosocial outcomes for women who opted for risk-reducing mastectomy (RRM) and/or risk-reducing salpingo-oophorectomy (RRSO).Methods: Unaffected women from high-risk breast cancer families who had completed baseline questionnaires for an existing study and subsequently underwent RRM and/or RRSO, completed measures of perceived breast and ovarian cancer risk, anxiety, depression, cancer-related anxiety, body image, sexual functioning, menopausal symptoms, use of hormone replacement therapy and decision regret three years post-surgery. Outcomes were compared to age-and risk-matched controls.Results: Participants (N=233) were 17 women who had RRM (39 controls), 38 women who had RRSO (94 controls) and 15 women who had RRM+RRSO (30 controls). Women who underwent RRM and those who underwent RRM+RRSO reported reductions in perceived breast cancer risk and perceived breast and ovarian cancer risk respectively, compared to their respective controls. RRM women reported greater reductions in cancer-related anxiety compared with both controls and RRSO women. RRSO women reported more sexual discomfort than controls and more urogenital menopausal symptoms than controls and RRM only women. No differences in general anxiety, depression or body image were observed. Regret was associated with greater reductions in body image since surgery and more sexual discomfort, although overall regret levels were low. Conclusions:Women who undergo RRM experience psychological benefits associated with reduced breast cancer risk. Although women who undergo RRSO experience some deterioration in sexual and menopausal symptoms, they do not regret their surgery decision. It is vital that women considering these procedures receive detailed information about potential psychosocial consequences.3

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors.

e-TC is an online intervention designed to address common psychosocial concerns of testicular cancer survivors. It aims to reduce anxiety, depression and fear of cancer recurrence by providing evidence-based information and psychological intervention. This paper details the development and pilot testing of e-TC. During pilot testing, 25 men (with varying psychological profiles) who had completed treatment for testicular cancer, 6 months to 5 years ago (which had not recurred), used e-TC over a 10-week period and provided quantitative and qualitative feedback on the feasibility and acceptability of the programme. Six men also completed a qualitative interview to provide detailed feedback on their experiences using e-TC. Fourteen men (56%) completed at least 80% of the programme. Participants reported a high level of satisfaction with the programme. Men's limited time was a barrier to programme use and completion, and participants suggested that men with a more recent diagnosis and a higher level of distress may be more likely to engage with the programme. e-TC appears to be a feasible and acceptable online intervention for survivors of testicular cancer. Findings from this study are currently being used to refine e-TC and guide the design of a larger efficacy study.

Objective: Reviews on the psychosocial aspects of genetic testing for hereditary diseases typically focus on outcomes for carriers and non-carriers of genetic mutations. However, the majority of unaffected individuals from high-risk families do not undergo predictive testing. The aim of this review was to examine studies on psychosocial distress in unaffected individuals who delay, decline or remain ineligible for predictive genetic testing.Method: Systematic searches of Medline, CINAHL, PsychINFO, PubMed and handsearching of related articles published between 1990 and 2012 identified 23 articles reporting 17 different studies that were reviewed and subjected to quality assessment.Results: Findings suggest definitions of delaying and declining are not always straightforward and few studies have investigated psychological distress among individuals who remain ineligible for testing. Findings related to distress in delayers and decliners have been mixed, but there is evidence to suggest cancer-related distress is lower in those who decline genetic counselling and testing, compared with testers, and that those who remain ineligible for testing experience more anxiety than tested individuals. Psychological, personality and family history vulnerability factors were identified for decliners and individuals who are ineligible for testing. Conclusions:The small number of studies and methodological limitations preclude definitive conclusions. Nevertheless, subgroups of those who remain untested appear to be at increased risk for psychological morbidity. As the majority of unaffected individuals do not undergo genetic testing, further research is needed to better understand the psychological impact of being denied the option of testing, declining and delaying testing. IntroductionDespite early concerns over the potential for adverse psychological responses to genetic testing for disease risk [1], no systematic negative long-term psychological outcomes have been demonstrated [2,3]. This may be attributable to the success of genetic counselling in facilitating adaptation to receiving genetic results as well as the benefits of reducing uncertainty regarding risk and providing information to guide screening, prevention or treatment decisions [4,5]. However, little is known about the impact of not receiving genetic test results in the presence of a family history of disease.

No abstract