Dramatic advances in cancer genetics and identification of germline mutations in cancer genes such as BRCA1 and BRCA2 have led to new options in genetic risk assessment for families with histories of breast and ovarian cancer. However, little research has been carried out with individuals and their families regarding how cancer risk information is communicated within families and factors that may affect individuals and family members making informed decisions about their health. This study explored participants' knowledge of cancer risk, their perceptions and concerns regarding inherited cancer risk information, family communication patterns, and factors that may affect their decision to learn about inherited cancer risk in their families. Nine focus groups of family dyads were conducted (N=39) consisting of breast or ovarian cancer patients and close female relatives. All transcribed interviews were analyzed using qualitative software. Key findings showed diversity in how families communicated and made decisions about their health, persistent worry for their families, lack of knowledge about inherited cancer, vigilance in watching their health, and barriers present in communicating about genetic risk. Results from this study support inclusion of family members in addressing inherited cancer risk information and contextual family factors critical to consider in potentially high risk families.

While families at increased risk for familial breast/ovarian cancer continue to overestimate their cancer risk with increased cancer worries about the future, few studies have examined factors that affect inherited cancer risk perception and cancer worries in both survivors and unaffected female relatives. The purpose of this study was to examine variables that may affect cancer worries and risk perceptions from a family-based perspective in a racially diverse, community-based, random sample of 146 dyads consisting of adult female breast and/or ovarian cancer survivors and their unaffected female relatives (N = 292). Results indicated that coping style, self-efficacy, partner’s income, family role relationship, and cancer risk perception were significant contributors to the survivors’ and their unaffected relatives’ cancer worries. Significant variables for perception of cancer risk for both survivors and relatives included income, race, family history of cancer, and cancer worries. Relatives had a higher perception of cancer risk, whereas survivors had more cancer worries. Additionally, the level of cancer worries reported by one member of the dyad was related to the amount of worries reported by the other. The results from this study underscore the importance of clinicians addressing concerns of both affected and unaffected members of families at increased risk of cancer to assist them in managing cancer worries and having realistic risk appraisals to make informed decisions about their own and their family’s health surveillance options.

Objective The purpose of this study was to identify factors associated with decision making about inherited cancer risk information within families and determine the interdependence between survivors’ and relatives’ decision making. Design A descriptive, cross-sectional design using a population-based sample of 146 dyads (N=292) was used. Analyses included multilevel modeling using the Actor-Partner-Interdependence Model Main Outcome Measure Decision making was the main outcome, along with the pros and cons in making a decision regarding inherited cancer risk information. Results Overall, results indicate several individual and family factors that survivors and female relatives contribute toward their own and each other’s decision making about inherited cancer risk information. Individual factors included the individual’s perceptions of their family communication and their family’s cancer history. Among family dyadic factors, survivors and family members’ age, communication and coping style influenced the decision making of the other member of the dyad. Cancer worries and a monitoring coping style affected both seeking and avoiding decision making for survivors and their relatives. Conclusions In view of the importance of genetic information upon family health outcomes, it is critical to address both individual and family factors that may influence decision making about cancer risk information and surveillance options for all members within the family.

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A substantial fraction of familial ovarian cancer cases cannot be attributed to specific genetic factors. The discovery of additional susceptibility genes will permit a more accurate assessment of hereditary cancer risk and allow for monitoring of predisposed women in order to intervene at the earliest possible stage. We focused on a population with elevated familial breast and ovarian cancer risk. In this study, we identified a SNP rs926103 whose minor allele is associated with predisposition to ovarian but not breast cancer in a Caucasian high-risk population without BRCA1/BRCA2 mutations. We have found that the allelic variation of rs926103, which alters amino acid 52 of the encoded protein SH2D2A/TSAd, results in differences in the activity of this protein involved in multiple signal transduction pathways, including regulation of immune response, tumor vascularization, cell growth, and differentiation. Our observation provides a novel candidate genetic biomarker of elevated ovarian cancer risk in members of high-risk families without BRCA1/2 mutations, as well as a potential therapeutic target, TSAd.