Dataset Information

Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

ABSTRACT:

Introduction

Non-Hispanic (nH) Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.

Methods

We used a panel of 100 ancestry informative markers (AIMs) to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.

Results

As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92) among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95) among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p?=?0.02) and higher grade (p?=?0.012) in nH Whites and later stage (p?=?0.03) in nH Blacks.

Conclusion

Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

SUBMITTER: Al-Alem U

PROVIDER: S-EPMC4244099 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Publications

Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

Al-Alem Umaima U Rauscher Garth G Shah Ebony E Batai Ken K Mahmoud Abeer A Beisner Erin E Silva Abigail A Peterson Caryn C Kittles Rick R

PloS one 20141125 11

<h4>Introduction</h4>Non-Hispanic (nH) Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.<h4>Methods</h4>We used a ...[more]

PMID: 25423363

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Project description:BackgroundConflicting breast cancer screening recommendations have the potential to diminish informed decision making about screening.ObjectiveWe examined the knowledge, attitudes, and intentions related to divergent recommendations for breast cancer screening among racially/ethnically diverse women.DesignWe used a multimethod study design employing focus groups and questionnaires. Focus groups included: (1) two 10-min presentations on the national screening recommendations and the potential benefits and harms of screening and (2) an interactive discussion. Data were collected: 8/3/2017 to 11/19/2019. Analysis occurred from 1/21/2019 to 7/24/2020.ParticipantsParticipants were (1) women 40-75 years; (2) English or Spanish speaking; (3)self-identified as Latina, Black, or non-Latina White; and (4) no known increased risk for breast cancer.Main measuresMain outcomes were participants' knowledge and perceptions of benefits and harms of screening mammography and their screening intentions. Focus groups were transcribed and analyzed using a qualitative descriptive approach. Quantitative data were summarized using descriptive statistics.Key resultsOne hundred thirty-four women (n=52, 40-49 years; n=82, 50-75 years) participated in 28 focus groups. Participants were Latina (n=44); Black (n=51); and non-Latina White (n=39). Approximately one-quarter (n=32) had limited health literacy and almost one-fifth (n=23) had limited numeracy. In the context of differing national screening recommendations, participants questioned the motives of the recommendation-making agencies, including the role of costs and how costs were considered when making screening recommendations. Participants expressed concern that they were not represented (e.g., race/ethnicity) in the data informing the recommendations. Immediately following the focus groups, most participants expressed intention to screen within the upcoming year (pre n=100 vs. post n=107).ConclusionsDivergent breast cancer screening recommendations may lead to mistrust and paradoxically reinforce high overall enthusiasm for screening.

Project description:Most genetic studies of nonalcoholic fatty liver disease (NAFLD) have been conducted in Whites. In this large and ethnically diverse cohort, we assessed the transportability of previously identified genetic variants for NAFLD, built a genetic risk score (GRS), and examined its association with NAFLD risk in multiple ethnic groups. Thirty previously identified genome-wide association studies (GWAS) variants (P < 5 × 10-8 ) and 17 other variants associated with NAFLD were examined in a nested case-control study of NAFLD (1,448 cases/8,444 controls) in this multi-ethnic cohort study. We then built a GRS using 11 independent single-nucleotide polymorphisms from these prior studies and examined its association with NAFLD by cirrhosis status across multiple ethnic groups. Of the 30 GWAS SNPs, 20 (67%) were replicated (P < 0.05) in the pooled multi-ethnic population. The highest percentage of replication was seen in Latinos (43%), followed by Japanese Americans (37%), Whites (17%), and Native Hawaiians and African Americans (≤10%). Several genetic variants, including those in PNPLA3 (patatin-like phospholipase domain containing 3), HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13), TM6SF2 (transmembrane 6 superfamily member 2), GATAD2A (GATA zinc finger domain containing 2A), GCKR (glucokinase regulator), SUGP1 (SURP and G-patch domain containing 1), MBOAT7 (membrane bound O-acyltransferase domain containing 7), TRIB1 (tribbles pseudokinase 1), SAMM50 (sorting and assembly machinery component), and ERLIN1 (ER lipid raft associated 1)-CHUK (component of inhibitor of nuclear factor kappa B kinase complex)-CWF19L1 (CWF19 like cell cycle control factor 1) gene cluster, were replicated in at least two ethnic groups. An 11-SNP weighted GRS was associated with NAFLD risk in the multi-ethnic population (odds ratio [OR] per SD increase = 1.41; 95% confidence interval [CI] = 1.32-1.50), as well as in each ethnic group (OR ranged from 1.30 in African Americans to 1.52 in Latinos). The GRS-NAFLD association was stronger for NAFLD with cirrhosis (OR = 1.67; 95% CI = 1.46-1.92) compared to NAFLD without cirrhosis (OR = 1.37; 95% CI = 1.28-1.46) (P heterogeneity = 0.003). Conclusion: In this ethnically diverse cohort, we replicated several key genetic variants for NAFLD and showed the utility of GRS based on the risk alleles for NAFLD risk stratification in multiple ethnic groups.

Dataset Information

Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

Introduction

Methods

Results

Conclusion

Publications

Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

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