Awareness and preferences regarding BRCA1/2 genetic counseling and testing among Latinas and non-Latina white women at increased risk for hereditary breast and ovarian cancer.

This study was an investigation of awareness, cognitions, and psychosocial and educational needs related to genetic counseling and testing among Latinas and non-Latina whites at increased risk for having a BRCA1/2 mutation. Sixty-three Latina and eighty-four non-Latina white women completed telephone surveys employing a mixture of quantitative and qualitative questions assessing awareness, benefits, risks, barriers, and genetic counseling communication preferences regarding BRCA1/2 testing. Among participants who had not previously had genetic counseling/testing, 56.9% of Latinas (29/51) and 34.8% of non-Latina white participants (24/69) were unaware of the availability of BRCA1/2 testing. In multivariate logistic regression analysis, Latina ethnicity was the only statistically significant independent factor associated with lack of awareness (OR = 0.42; 95% CI = 0.19-0.35). No appreciable differences were noted between ethnic groups regarding perceived benefits of BRCA1/2 testing or desired genetic counseling topics. These findings underscore the importance of increasing awareness of cancer genetic counseling and genetic testing among both Latina and non-Latina white populations.

Small cell carcinoma: arising in Lynch syndrome: a previously undocumented occurrence.

Lynch syndrome is a genetic cancer predisposition syndrome caused by an inherited defect in 1 of 4 DNA mismatch repair genes (mutL homolog 1, mutS homolog 2, mutS homolog 6, and postmeiotic segregation 2). Despite the theoretically increased risk in all tissues, Lynch syndrome exhibits tissue specificity, with a particular tendency among affected individuals to develop colorectal and endometrial cancer at a young age. A number of other malignancies, including those derived from the ovary, stomach, small bowel, and urothelium, have also been linked to this syndrome. A growing body of evidence exists to support an association between mismatch repair mutations and a growing spectrum of hereditary nonpolyposis colon cancer-associated neoplasms. In this article, a previously undocumented mismatch repair-related malignancy in a patient with Lynch syndrome is reported.

Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families.

Until recently, genetic testing for hereditary breast cancer has primarily focused on pathogenic variants in the BRCA1 and BRCA2 (BRCA) genes. However, advances in DNA sequencing technologies have made simultaneous testing for multiple genes possible. We examined correlates of interest in multigene panel testing and risk communication preferences in an ethnically diverse sample of women who tested negative for BRCA mutations previously but remain at high risk based on their family history (referred to as "BRCA-uninformative") and their at-risk female family members. Two-hundred and thirteen women with a previous breast cancer diagnosis and a BRCA-uninformative test result and their first-degree relatives completed a survey on interest in multigene panel testing, communication preferences, and sociodemographic, psychological, and clinical factors. Stepwise logistic regression was used to identify factors associated with testing interest. Chi-square analyses were used to test differences in risk communication preferences. Interest in multigene panel testing was high (84%) and did not considerably differ by cancer status or ethnicity. In multivariable analysis, factors significantly associated with interest in genetic testing were having had a mammogram in the past 2 years (odds ratio (OR) = 4.04, 95% confidence interval (CI) 1.80-9.02) and high cancer worry (OR = 3.77, 95% CI 1.34-10.60). Overall, the most commonly preferred genetic communication modes were genetic counselors, oncologists, and print materials. However, non-Hispanic women were more likely than Hispanic women to prefer web-based risk communication (p < 0.001). Hispanic and non-Hispanic women from BRCA-uninformative families have a high level of interest in gene panel testing. Cancer-related emotions and communication preferences should be considered in developing targeted genetic risk communication strategies.

Hereditary gynecologic cancers: risk assessment, counseling, testing and management.

Gynecologists and gynecologic oncologists have a major role in identifying patients at increased risk of inherited cancer syndromes. Awareness of the biological and familial risk factors is useful in this practice, and can assist patients and families in navigating the follow-up for these complex disorders. Large national and international cohorts of women with known BRCA1/2 mutations or high risk continue to collect data in an attempt to better understand genetic risk, risk modifiers, and quality-of-life impact or screening, testing and risk reduction strategies. The Consortium of Investigators of Modifiers of BRCA1/2 is beginning to identify other genetic modifiers of BRCA1/2 risk and cancer cluster regions in an attempt to better individualize site specific cancer risk and prevention strategies. The Gynecologic Oncology Group has initiated along-term follow-up study to the Gynecologic Oncology Group 199 protocol, which will continue to advance understanding of patient decisions, quality-of-life impact, and other genetic factors responsible for cancer initiation and progression. These and other large consortia are invaluable resources with massive datasets requiring herculean analyses that will continue to rapidly advance our present knowledge and management of women with hereditary cancer syndromes.

Association between screening family medical history in general medical care and lower burden of cancer worry among women with a close family history of breast cancer.

PURPOSE: Soliciting family medical history (FMH) is the initial step in the process of screening for heritable cancer risk in medical care. We investigate whether recent solicitation of FMH in general medical care is associated with cancer worry among a sample of women having a first-degree relative with a breast cancer diagnosis. METHODS: Surveys were mailed to women registered with the Cancer Genetics Network having a first-degree relative with a breast cancer diagnosis and a regular source of medical care. The independent measure consisted of two items for solicitation of FMH based on validated measures of clinical interactions with one's physician; the dependent measure was a novel measure of cancer worry based on validated patient-centered measure of distress; and the secondary measures were 6-point scales for perceived likelihood of developing breast cancer and perceived severity of breast cancer as a health outcome. RESULTS: A total of 353 women responded and met eligibility criteria (76.4% minimum response rate). One fifth reported no cancer worry during the past 4 weeks. After adjustment for age, education, pedigree features, and clustering within families, recent FMH solicitation was associated with lower odds of cancer worry (odds ratio = 0.58; 95% confidence interval = 0.51-0.70). FMH solicitation was associated with lower perceptions of the severity of developing breast cancer but not with the perception of cancer likelihood. CONCLUSIONS: Our data do not support the hypothesis that FMH solicitation in general medical practice causes cancer worry. In fact, we observed a protective association possibly explained by influences on perceptions of breast cancer severity. Prospective research among less select populations is necessary.

Emotional responses to APO E genotype disclosure for Alzheimer disease.

The purpose of our study is to assess the emotional responses to disclosing APO E genotype to asymptomatic older adults at increased risk for Alzheimer disease (AD). This is a longitudinal cohort study of volunteer subjects who were aged 50 years or over, asymptomatic for (AD), had a family history of AD, passed a psychological assessment, and participated in pre- and post-test genetic counseling and three follow-up visits over 10 months. We analyzed responses by three emotional constructs: depressed, worried, and relieved. Three hundred and twenty-eight subjects were screened, 76 received their APO E genotype. When emotional responses occurred it was immediate, between baseline and the 1 month follow-up. Emotional reactions did not change significantly past 1 month. Our results suggest that for emotionally stable persons, disclosing results of their APO E genotype, high risk subjects did not report more depression or worry and low risk subjects felt relieved by knowing the results. Future studies should evaluate the risks of disclosure to family members involved in the diagnostic work-up of a relative and include subjects from a broader range of emotional stability and socioeconomic background.