40 research outputs found

    Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

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    Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores

    Ethnic comparisons of adolescent sexual risk-taking and preventive behavior

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    For adolescents, unprotected sexual intercourse is the primary cause of sexually transmitted disease (STD), including Human Immunodeficiency Virus (HIV) infection (virus which causes Acquired Immunodeficiency Syndrome (AIDS)), and pregnancy. Although many studies on adolescent sexual behavior have addressed racial/ethnic differences, few studies have examined the relation between race/ethnicity while controlling for other sociocultural and psychosocial variables. The purpose of this study is to examine the relationship between racial/ethnic categories and selected sociocultural and psychosocial variables, with reported adolescent sexual risk-taking and preventive behavior. A self-administered questionnaire was used to collect information from 3132 students in a Texas school district (Section 3.5.2). The instrument contained approximately 100 questions on demographic characteristics, sexual behavior, and psychosocial determinants of sexual behavior. Based on the findings of this study, the following major conclusions are made: (1) There are differences in reported sexual risk-taking and preventive behavior among Black, Hispanic and White adolescents in this study. The stratified analysis by gender further suggests significant gender differences in reported sexual behavior among the three racial/ethnic groups. (2) Gender, living arrangement, academic grades, and language spoken at home modified the association between reported sexual risk-taking and preventive behavior and race/ethnicity in this study. This suggests that these sociocultural variables should be considered in future research and practice involving multicultural populations. (3) There are differences in selected psychosocial determinants among the three racial/ethnic groups and between males and females. These differences were consistent with the reported sexual risk-taking and preventive behaviors among race/ethnicity and gender for adolescents in this study. The findings support the consideration of psychosocial determinants in research and interventions addressing adolescent sexual behavior among different racial/ethnic groups. Based on the results of this study, two recommendations for practice are made. First, health professionals developing interventions for adolescents from different cultural backgrounds and gender need to be familiar with the specific sociocultural and psychosocial factors which will reduce risky sexual behavior, and promote protective behavior. Second, the need for immediate, realistic, and continuous HIV/STD and pregnancy prevention programs for children and adolescents should be considered

    Equitable COVID-19 Vaccination for Hispanics in the United States: A Success Story from California Border Communities

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    The ongoing 2019 novel coronavirus disease (COVID-19) pandemic continues to impact the health of individuals worldwide, including causing pauses in lifesaving cancer screening and prevention measures. From time to time, elective medical procedures, such as those used for cancer screening and early detection, were deferred due to concerns regarding the spread of the infection. The short- and long-term consequences of these temporary measures are concerning, particularly for medically underserved populations, who already experience inequities and disparities related to timely cancer care. Clearly, the way out of this pandemic is by increasing COVID-19 vaccination rates and doing so in an equitable manner so that communities most affected receive preferential access and administration. In this article, we provide a perspective on vaccine equity by featuring the experience of the California Hispanic community, who has been disproportionately impacted by the pandemic. We first compared vaccination rates in two United States&ndash;Mexico border counties in California (San Diego County and Imperial County) to counties elsewhere in California with a similar Hispanic population size. We show that the border counties have substantially lower unvaccinated proportions of Hispanics compared to other counties. We next looked at county vaccination rates according to the California Healthy Places Index, a health equity metric and found that San Diego and Imperial counties achieved more equitable access and distribution than the rest of the state. Finally, we detail strategies implemented to achieve high and equitable vaccination in this border region, including Imperial County, an agricultural region that was California&rsquo;s epicenter of the COVID-19 crisis at the height of the pandemic. These United States&ndash;Mexico border county data show that equitable vaccine access and delivery is possible. Multiple strategies can be used to guide the delivery and access to other public health and cancer preventive services

    Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety-net institution

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    Some communities and populations lack access to genetic cancer risk assessment (GCRA) and testing. This is particularly evident in safety-net institutions, which serve a large segment of low-income, uninsured individuals. We describe the experience of a safety-net clinic with limited resources in providing GCRA and BRCA1/2 testing. We compared the proportion and characteristics of high-risk women who were offered and underwent GCRA and genetic testing. We also provide a description of the mutation profile for affected women. All 125 patients who were offered GCRA accepted to undergo GCRA. Of these, 72&nbsp;% had a breast cancer diagnosis, 70&nbsp;% were Hispanic, 52.8&nbsp;% were non-English speakers, and 66&nbsp;% did not have health insurance. Eighty four (67&nbsp;%) were offered genetic testing and 81 (96&nbsp;%) agreed. Hispanic women, those with no medical insurance, and those with a family history of breast cancer were significantly more likely to undergo testing (p &gt; 0.01). Twelve of 81 (15&nbsp;%) patients were found to have deleterious mutations, seven BRCA1, and five BRCA2. Our experience shows that it is possible to offer GCRA and genetic testing even in the setting of limited resources for these services. This is important given that a large majority of the low-income women in our study agreed to undergo counseling and testing. Our experience could serve as a model for similar low-resource safety-net health settings
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