Familial effects of BRCA1 genetic mutation testing: changes in perceived family functions

Working PaperThis study expands recent research that examines how the receipt of BRCA1 genetic test results affects family adaptability and cohesion one year after genetic risk notification. Study participants were members of a large Utah-based kindred with an identified mutation at the BRCA1 locus. The final sample, 90 men and 132 women, contributed information prior to genetic testing (baseline) and 4 months and/or 1 year after receipt of genetic test results. After controlling for other factors such as family coping resources (F-COPES) and strains (F-STRAIN), and the tested individual's anxiety levels prior to genetic testing (SAS), men and women reported significant declines in family cohesion one year after genetic risk notification (p<.01). Compared to non-carriers, carrier men reported increasing adaptability one year after risk notification (+0.21 points per month, p<.10). Having a carrier sister seemed to have a positive influence on women's perceived family cohesion and adaptability levels, while a personal history of cancer, having a great deal of caregiving involvement for a female relative with cancer, anxiety, and some types of coping resources had a negative impact on men's perceived family cohesion and adaptability levels. Although results showed that tested parents are perceiving a decline in family functioning after genetic risk notification, there is no evidence to suggest that the decline is due to carrier status. In fact, it is other life circumstances which exist at the time of the genetic testing process that seem to influence the degree to which families adjust to the experience and test results

Familial effects of BRCA1 genetic mutation testing: changes in perceived family functioning

Journal ArticleThis study expands recent research that examines how the receipt of BRCA1 genetic test results affects family adaptability and cohesion 1 year after genetic risknotification. Study participants were members of a large Utah-based kindred with an identified mutation at the BRCA1 locus. The final sample, 90 men and 132 women, contributed information before genetic testing (baseline) and 4 months and/or 1 year after receipt of genetic test results. After controlling for other factors such as family coping resources (Family Crises "Oriented Personal Evaluation Scale) and strains (Family Strains Index) and the tested individual's anxiety levels before genetic testing (state anxiety subscale), men and women reported significant declines in family cohesion 1 year after genetic risk notification (P < 0.01). There is suggestive evidence that carrier men reported increasing adaptability 1 year after risk notification (+0.21 points per month; P < 0.10). Having a carrier sister had a positive influence on women's perceived family cohesion and adaptability levels, whereas a personal history of cancer, having a great deal of caregiving involvement for a female relative with cancer, anxiety, and some types of coping resources had a negative effect on men's perceived family cohesion and adaptability levels. Although results showed that tested parents are perceiving a decline in family functioning after genetic risk notification, there is no evidence to suggest that the decline is due to carrier status. In fact, it is other life circumstances that exist at the time of the genetic testing process that seem to influence the degree to which families adjust to the experience and test results

Racial/Ethnic Disparities in HPV-associated Anogenital Cancers Among Males in the United States: A Population-Based Retrospective Cohort Study

Little is known regarding racial/ethnic differences in human papillomavirus (HPV)-associated anogenital cancer among males. We examined age-adjusted incidence, late-stage diagnosis, survival and mortality of anogenital cancers among males in the United States. This population-based retrospective cohort study included 39,601 males diagnosed with HPV-associated invasive penile and anorectal cancers between 2005-2016 from the North American Association of Central Cancer Registries. We evaluated the association of race/ethnicity with outcomes using multivariable logistic regression, adjusted survival curves, and Cox proportional hazard modeling, adjusting for age, insurance, residential characteristics (metropolitan/non-metropolitan, area poverty, and geographic region), stage, and treatment. We also assessed interaction of race/ethnicity with other covariates in our late-stage and mortality models. Hispanic and Non-Hispanic (NH) Black males had highest age-adjusted incidence of penile and anorectal cancer, respectively. Higher odds of late-stage penile cancer was observed among NH Black (adjusted odds ratios [aOR] 1.22, 95% CI 1.07-1.39) and Hispanic males (aOR 1.17, 95% CI 1.04-1.31). Higher odds of late-stage anorectal cancer was observed among NH Black (aOR 1.25, 95% CI 1.14-1.36) and NH Other males (aOR 1.29, 95% CI 1.01-1.66). Compared to all other groups, NH Black males had the lowest cumulative and mean survival of both cancers and higher cancer-specific mortality (penile adjusted hazards ratios [aHR] 1.23, 95% CI 1.01-1.49; anorectal aHR 1.25, 95% CI 1.10-1.42). Racial/ethnic disparities in HPV-associated anogenital cancers differ depending on site. Interventions to increase HPV vaccination rates, early detection, and treatment of anogenital cancers in males are needed, particularly among men of color

Long-Term Survival in Young Women: Hazards and Competing Risks after Thyroid Cancer

Background. Differentiated thyroid cancers (DTCs) are one of the most common and survivable cancers diagnosed in women. We examine factors associated with long-term survival and competing risks of death in women diagnosed with DTC under the age of 40 (<40) and aged 40 and older (40+). Methods. SEER data was used to identify DTCs diagnosed in women from 1975 to 2009. We examined overall (OS), disease-specific (DSS), other cancer (OCS), and non-cancer-related (NCS) survival using multivariate Cox proportional hazards modeling. Results. Observed survival was 97.2% for <40 (n= 14,540) and 82.5% for 40+ (n=20,513). Distant stage (HR=1.96, 95% CI 1.23–3.07), non-Hispanic Black (HR=2.04, 95% CI 1.45–2.87), being unmarried (HR=1.26, 95% 1.03–1.54), and subsequent primary cancers (HR=4.63, 95% CI 3.76–5.71) were significant for OS in women <40. Age was an effect modifier for all survival outcomes. Racial disparities in NCS were most pronounced for young non-Hispanic black women (HR=3.36, 95% CI 2.17–5.22). Women in both age groups were more likely to die from other causes. Conclusions. Age at diagnosis remains one of the strongest prognostic factors for thyroid cancer survival. More directed efforts to ensure effective care for comorbid conditions are needed to reduce mortality from other causes

Cervical cancer survival in the United States by race and stage (2001-2009): Findings from the CONCORD-2 study.

BACKGROUND: Overall, cervical cancer survival in the United States has been reported to be among the highest in the world, despite slight decreases over the last decade. Objective of the current study was to describe cervical cancer survival trends among US women and examine differences by race and stage. METHODS: This study used data from the CONCORD-2 study to compare survival among women (aged 15-99 years) diagnosed in 37 states covering 80% of the US population. Survival was adjusted for background mortality (net survival) with state- and race-specific life tables and was age-standardized with the International Cancer Survival Standard weights. Five-year survival was compared by race (all races, blacks, and whites). Two time periods, 2001-2003 and 2004-2009, were considered because of changes in how the staging variable was collected. RESULTS: From 2001 to 2009, 90,620 women were diagnosed with invasive cervical cancer. The proportion of cancers diagnosed at a regional or distant stage increased over time in most states. Overall, the 5-year survival was 63.5% in 2001-2003 and 62.8% in 2004-2009. The survival was lower for black women versus white women in both calendar periods and in most states; black women had a higher proportion of distant-stage cancers. CONCLUSIONS: The stability of the overall survival over time and the persistent differences in survival between white and black women in all US states suggest that there is a need for targeted interventions and improved access to screening, timely treatment, and follow-up care, especially among black women. Cancer 2017;123:5119-37. Published 2017. This article is a U.S. Government work and is in the public domain in the USA

Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up

The ongoing integration of cancer genomic testing into routine clinical care has led to increased demand for cancer genetic services. To meet this demand, there is an urgent need to enhance the accessibility and reach of such services, while ensuring comparable care delivery outcomes. This randomized trial compared 1-year outcomes for telephone genetic counseling with in-person counseling among women at risk of hereditary breast and/or ovarian cancer living in geographically diverse areas

A Population-Based Study of Childhood Cancer Survivors’ Body Mass Index

Background. Population-based studies are needed to estimate the prevalence of underweight or overweight/obese childhood cancer survivors. Procedure. Adult survivors (diagnosed ≤20 years) were identified from the linked Utah Cancer Registry and Utah Population Database. We included survivors currently aged ≥20 years and ≥5 years from diagnosis (N=1060), and a comparison cohort selected on birth year and sex (N=5410). BMI was calculated from driver license data available from 2000 to 2010. Multivariable generalized linear regression models were used to calculate prevalence relative risks (RR) and 95% confidence intervals (95% CI) of BMI outcomes for survivors and the comparison cohort. Results. Average time since diagnosis was 18.5 years (SD=7.8), and mean age at BMI for both groups was 30.5 (survivors SD=7.7, comparison SD=8.0). Considering all diagnoses, survivors were not at higher risk for being underweight or overweight/obese than the comparison. Male central nervous system tumor survivors were overweight (RR=1.12, 95% CI 1.01–1.23) more often than the comparison. Female survivors, who were diagnosed at age 10 and under, had a 10% higher risk of being obese than survivors diagnosed at ages 16–20 (P<0.05). Conclusion. While certain groups of childhood cancer survivors are at risk for being overweight/obese, in general they do not differ from population estimates

Breast-Cancer-Specific Mortality in Patients Treated Based on the 21-Gene Assay: A SEER Population-Based Study

The 21-gene Recurrence Score assay is validated to predict recurrence risk and chemotherapy benefit in hormone-receptor-positive (HR+) invasive breast cancer. To determine prospective breast-cancer-specific mortality (BCSM) outcomes by baseline Recurrence Score results and clinical covariates, the National Cancer Institute collaborated with Genomic Health and 14 population-based registries in the the Surveillance, Epidemiology, and End Results (SEER) Program to electronically supplement cancer surveillance data with Recurrence Score results. The prespecified primary analysis cohort was 40–84 years of age, and had node-negative, HR+, HER2-negative, nonmetastatic disease diagnosed between January 2004 and December 2011 in the entire SEER population, and Recurrence Score results (N = 38,568). Unadjusted 5-year BCSM were 0.4% (n = 21,023; 95% confidence interval (CI), 0.3–0.6%), 1.4% (n = 14,494; 95% CI, 1.1–1.7%), and 4.4% (n = 3,051; 95% CI, 3.4–5.6%) for Recurrence Score \u3c 18, 18–30, and ≥ 31 groups, respectively (P \u3c 0.001). In multivariable analysis adjusted for age, tumor size, grade, and race, the Recurrence Score result predicted BCSM (P \u3c 0.001). Among patients with node-positive disease (micrometastases and up to three positive nodes; N = 4,691), 5-year BCSM (unadjusted) was 1.0% (n = 2,694; 95% CI, 0.5–2.0%), 2.3% (n = 1,669; 95% CI, 1.3–4.1%), and 14.3% (n = 328; 95% CI, 8.4–23.8%) for Recurrence Score \u3c 18, 18–30, ≥ 31 groups, respectively (P \u3c 0.001). Five-year BCSM by Recurrence Score group are reported for important patient subgroups, including age, race, tumor size, grade, and socioeconomic status. This SEER study represents the largest report of prospective BCSM outcomes based on Recurrence Score results for patients with HR+, HER2-negative, node-negative, or node-positive breast cancer, including subgroups often under-represented in clinical trials