Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology最新文献

{"title":"The role of human papillomavirus (HPV) E6 oncoprotein as a biomarker in anal cancer screening in persons living with HIV.","authors":"Faiza Faria, Stephen E Hawes, John Lin, Jeffrey Schouten, Helen Cristina Stankiewicz Karita, Stephen Cherne, Anjali Vasavada, Ruanne V Barnabas, Judith N Wasserheit, Qinghua Feng, Rachel L Winer","doi":"10.1158/1055-9965.EPI-25-0327","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0327","url":null,"abstract":"<p><strong>Background: </strong>Molecular biomarkers could enhance anal cancer screening accuracy in people living with HIV (PLWH). We assessed the performance of human papillomavirus (HPV)-16/18 E6 oncoprotein in detecting anal high-grade squamous intraepithelial lesions (HSIL) in men living with HIV (MLWH).</p><p><strong>Methods: </strong>We analyzed clinical data from 125 clinic visits of 82 MLWH who underwent high-resolution anoscopy in Seattle, Washington (2015-2016), including presence and extent of HSIL. Anal brush specimens were tested for high-risk (hr)HPV DNA, with HPV-16/18-positive samples further tested for E6 oncoprotein. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of HPV-16/18 E6 oncoprotein for HSIL were calculated, plus prevalence ratios (PR) with 95% confidence intervals (CIs).</p><p><strong>Results: </strong>Forty-eight samples (38.4%) were HPV-16/18 positive, including three also E6 positive. Forty-nine (39.2%) had corresponding HSIL. Specificity and PPV of HPV-16/18 E6 for HSIL was 100% and the PR was 7.33 (95%CI:2.44-22.07) for HPV-16/18 E6 positive versus hrHPV-negative samples. Sensitivity for HSIL, however, was only 6.1%, with moderate NPV (62.3%). Two of four persons with HSILs with >75% disease extent had corresponding HPV-16/18 E6 positive samples, whereas none of 30 persons with <25% extent did.</p><p><strong>Conclusion: </strong>The HPV-16/18 E6 oncoprotein has potential utility as a triage biomarker for identifying and prioritizing lesions at highest risk for progression.</p><p><strong>Impact: </strong>PLWH are at increased risk of anal cancer and would benefit from improved screening methods. Further research may elucidate the role of HPV-16/18 E6 oncoprotein in anal cancer prevention, alone or combined with other biomarkers.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Navigating Social Influences: The Impact of Anticipated HPV Vaccination Stigma from Friends and Family on College Students' HPV Vaccination Intent.","authors":"Jace D Pierce, Yusi A Xu, Nicole A Hall, Kennedy S Anderson, Lenna Dawkins-Moultin, Celia Ching Yee Wong-Meli, Dalnim Cho, Suellen Hopfer, Lois M Ramondetta, Yisheng Li, Di Lun, Qian Lu","doi":"10.1158/1055-9965.EPI-25-0032","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0032","url":null,"abstract":"<p><strong>Background: </strong>Family and friends play a dual role in supporting and hindering young adults' decisions regarding the HPV vaccine. However, the mechanisms by which anticipated HPV vaccination stigma from these social circles affects vaccination intent remain largely understudied. This study applied the Information-Motivation-Behavioral Skills (IMB) Model to examine how anticipated HPV vaccination stigma from family and friends influences vaccination intent and its underlying mechanisms.</p><p><strong>Methods: </strong>Unvaccinated young adults (N=728) aged 18-26 in Texas completed a survey to assess anticipated HPV vaccination stigma from family and friends, vaccination intent, and mediators. Two parallel path analyses evaluated the association between anticipated HPV vaccination stigma from family and friends and vaccination intent, with self-efficacy, beliefs about sexual activity and vaccination need, and intent to consult a doctor as hypothesized skill- and belief-based mediators, controlling for demographics.</p><p><strong>Results: </strong>Indirect effects showed that stronger anticipated HPV vaccination stigma from family and friends was linked to weaker vaccination intent through reduced self-efficacy and a strengthened belief that limited sexual activity reduces vaccination need (total indirect effect for family: β=-0.050, p=.003). Stronger anticipated stigma from friends-not family-predicted weaker intent through reduced intent to consult a doctor (total indirect effect for friends: β=-0.079, p=.005).</p><p><strong>Conclusions: </strong>Anticipated HPV vaccination stigma undermines vaccination intent by weakening vaccination skills and reinforcing beliefs that discourage vaccination, with its influence differing by source.</p><p><strong>Impact: </strong>Tailored messaging is needed to equip young adults with the confidence and resources to overcome HPV vaccination stigma from family and friends, with each source addressed uniquely.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Climate Change and the Microbial Shift: Unveiling Hidden Risks for Cancer Progression.","authors":"Vinoj Goplakrishnan, Vaijayanthi Saravanan, Maria Infant Majula Shifani Mahendran, Vinoth Boopathy, Rajan Vaithianathan, Sowmya Srinivasan","doi":"10.1158/1055-9965.EPI-25-0565","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0565","url":null,"abstract":"<p><p>Climate change can lead to constant dysbiosis of the human microbiota, disrupting the delicate balance essential for maintaining good health. Climate change and its associated health risks are a growing area of research, yet its impact on human health, particularly for cancer patients and their relationship with microbes, remains largely unclear. While much attention is given to the effects of climate change on flora and fauna, its influence on microbes-both within the human body and in the environment deserves greater focus. Climate shifts can lead to constant dysbiosis of the human microbiota, disrupting the delicate balance, essential for maintaining good health. This interplay between host and environmental microbes is crucial for a healthy life. As climate change accelerates, it creates a favourable niche for pathogens, often exacerbated by antimicrobial resistance. Cancer patients, already immunocompromised, may be especially vulnerable to these microbial fluctuations driven by changing climates. Our review explores the existing studies that link climate change with microbial disturbances and how these shifts may contribute to cancer progression and accompanied comorbidities. Future research is essential to unravel the connection between climate change, microbial dysbiosis, and cancer development, shedding light on an often-overlooked threat to human health.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Racial Disparities in Pathologic Complete Response and Survival after Neoadjuvant Chemotherapy for Breast Cancer.","authors":"Alvaro Alvarez Soto, Wenqi Gan, Susan Tannenbaum","doi":"10.1158/1055-9965.EPI-25-0563","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0563","url":null,"abstract":"<p><strong>Background: </strong>Pathological complete response (pCR) is utilized as a surrogate for breast cancer outcomes in high-risk breast cancer patients. Racial disparities in pCR have been assessed by clinical trial data, the National Cancer Database, and single-center experiences; however, results vary by setting. This population study using the Surveillance Epidemiology, and End Results (SEER) program aims to assess differences in pCR rates between black and white women after neoadjuvant chemotherapy and assess survival by race and by pCR status.</p><p><strong>Methods: </strong>This is a population-based cohort study utilizing SEER. Black and white women with nonmetastatic breast cancer diagnoses who received neoadjuvant chemotherapy between 2010 and 2018 were included.</p><p><strong>Results: </strong>A total of 10,254 patients were analyzed. Black women had lower odds of pCR compared to white women (adjusted odds ratio 0.85, 95% confidence interval 0.76 - 0.95). With a median follow-up of 5.2 years, there was no difference in the adjusted risk of breast cancer-related or all-cause mortality between races when pCR was achieved. However, among patients who did not achieve pCR, blacks had higher breast cancer-related and all-cause mortality risk.</p><p><strong>Conclusions: </strong>Utilizing real-world data, black women had lower odds of pCR than white women, and non-pCR black women had worse survival outcomes than non-pCR white women.</p><p><strong>Impact: </strong>pCR alone can impact survival outcomes in black and white women. Outside of clinical trials racial disadvantages are clear. These findings highlight the need for interventions so that all patients receive optimal treatment to help mitigate breast cancer survival disparities.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Physical Activity on Metastatic Cancer at Diagnosis and Mortality: Results from the Lifelines Cohort Study.","authors":"Mylena D Bos, Grigory Sidorenkov, Petra C Vinke, Cassandra Sl Ho, N Helge Meyer, Maximilian Bockhorn, Derk Jan A de Groot, Joost M Klaase, Frederik Jh Hoogwater, Geertruida H de Bock, Maarten W Nijkamp","doi":"10.1158/1055-9965.EPI-25-0608","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0608","url":null,"abstract":"<p><strong>Background: </strong>While higher pre-diagnosis physical activity is linked to lower mortality among cancer survivors, it is unclear whether this is due to a reduced likelihood of metastatic cancer at diagnosis. This study evaluated whether adherence to physical activity guidelines before diagnosis is associated with all-cause mortality and metastatic cancer at diagnosis.</p><p><strong>Methods: </strong>In the prospective Lifelines Cohort Study of 152,915 adults, we identified individuals diagnosed with primary cancer at any site through linkage to the Netherlands Cancer Registry. Adherence to physical activity guidelines was defined as ≥150 minutes of moderate-intensity activity, ≥75 minutes of vigorous-intensity activity, or an equivalent combination per week. Cox and logistic regression estimated adjusted hazard ratios (HRs) and odds ratios (ORs) with 95% confidence intervals (CIs) for associations between adherence to physical activity guidelines, all-cause mortality, and metastatic cancer at diagnosis.</p><p><strong>Results: </strong>A total of 5,990 cancer patients were included: 10.7% reported no physical activity, 19.1% were insufficiently active, and 70.2% were sufficiently active. Cancer patients adhering to physical activity guidelines had a 16% lower risk of all-cause mortality compared to those who reported no physical activity (HR 0.84; 95% CI: 0.72-0.98). However, meeting physical activity guidelines was not significantly associated with a reduced likelihood of metastatic cancer at diagnosis (OR 0.98; 95% CI: 0.79-1.23).</p><p><strong>Conclusion: </strong>Physical activity at recommended levels before cancer diagnosis is linked to reduced mortality among cancer survivors, independent of metastatic cancer at diagnosis.</p><p><strong>Impact: </strong>These findings highlight the beneficial role of physical activity in reducing mortality in cancer patients.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adherence to World Cancer Research Fund/American Institute for Cancer Research Guidelines and Mortality Among Participants with Colorectal Cancer in the MEC Cohort.","authors":"Edgar Asiimwe, Irina Tolstykh, June M Chan, Stacey A Kenfield, Lynne R Wilkens, Song-Yi Park, Loïc Le Marchand, Brian Z Huang, Christopher A Haiman, Iona Cheng, Erin L Van Blarigan","doi":"10.1158/1055-9965.EPI-25-0379","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0379","url":null,"abstract":"<p><strong>Background: </strong>Racial and ethnic minority patients with colorectal cancer (CRC) are underrepresented in studies on health behavior and mortality.</p><p><strong>Methods: </strong>We examined the association between post-diagnosis health behavior and mortality in the Multiethnic Cohort (MEC), a diverse group of 215,000 participants from Hawai'i and Los Angeles (recruited 1993-1996). Follow-up was through December 31, 2019. Post-diagnosis health behavior was assessed using a modified World Cancer Research Fund/American Institute of Cancer Research (WCRF/AICR) score (excluding ultra-processed foods). The primary outcome was overall mortality; CRC-specific mortality was secondary.</p><p><strong>Results: </strong>Among 1,079 eligible participants, 489 (45.3%) were women, and 850 (78.8%) self-identified as racial/ethnically minoritized people. Over a median follow-up of 12.2 years, there were 613 all-cause deaths and 105 CRC-related deaths. Median time from diagnosis to questionnaire completion was 5 years (interquartile range, IQR: 2-8). Higher WCRF/AICR scores (4.5-7) were associated with lower risk of overall mortality compared to lower scores (≤2.25) (HR: 0.63; 95% CI: 0.45, 0.87). Risk of CRC-specific mortality was also lower but not statistically significant. Among individual health behaviors, physical activity was associated with lower risk of all-cause and CRC-specific mortality (reference: <75 min/week), with HRs of 0.59 (95% CI: 0.43, 0.81) for 75-<150 min/week and 0.51 (95% CI: 0.41, 0.64) for ≥150 min/week.</p><p><strong>Conclusions: </strong>Higher adherence to WCRF/AICR guidelines, particularly engaging in moderate-to-vigorous physical activity, was associated with lower risk of mortality in long-term CRC survivors.</p><p><strong>Impact: </strong>These findings support the generalizability of prior studies examining adherence to WCRF/AICR guidelines to a broader group of patients with CRC.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural determinants of racial disparities in breast cancer survival in Alabama.","authors":"Mackenzie E Fowler, Hayden D Reeves, Melissa J Smith, Geetanjali Saini, Mahak Bhargava, Ritu Aneja","doi":"10.1158/1055-9965.EPI-25-0195","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0195","url":null,"abstract":"<p><p>Background Despite improvements in breast cancer survival, Black versus White women remain at higher risk of death. Exploring reasons behind this disparity is necessary to facilitate interventions. This study evaluated rural-urban residence and/or area deprivation index (ADI) as mediators of the association between race and survival in adults with breast cancer in Alabama. Methods This retrospective, population-based cohort included 25,195 adult Black or White women with incident breast cancer in Alabama between 1/1/2010 and 12/31/2019. Exposure was self-reported race; mediators were rural-urban status (Rural-Urban Commuting Area codes) and neighborhood deprivation (state-level ADI). Outcome was overall survival from diagnosis to death (any cause) or end of follow-up (12/31/2021). Results White women (n=18,749) were older at diagnosis (62.4 vs. 58.7, p<0.001), had fewer deaths (21.6 vs. 25.8%, p<0.001), longer follow-up (70.2 vs. 66.7 months, p<0.001), lower ADI (4.1 vs. 6.3, p<0.001), and more rural dwellers (23.2 vs. 18.3%, p<0.001) compared to Black women (n=6,446). After full adjustment with rural-urban and ADI as mediators, there was partial mediation of the race-survival effect (Direct Effect, 95% CI: 1.14, 1.06-1.22; Indirect Effect, 95% CI: 1.10, 1.07-1.12; Proportion Mediated, 95% CI: 0.45, 0.31-0.64). These results mirrored the model with ADI as the only mediator, indicating ADI not rural-urban drove the indirect effect. Conclusions Among Black and White Alabamian women with breast cancer, 45% of the survival disparity is mediated by differences in neighborhood deprivation. Impact Almost half of the Black-White difference in breast cancer mortality would be eliminated if differences in neighborhood deprivation were improved.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144593754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The African-specific variant in the Duffy Antigen Receptor for Chemokines (DARC) gene, CD8+ T-cell density and Aggressive Breast Cancer Subtypes in Black Women.","authors":"Nisha M Nair, Lucas Mendicino, Peter N Fiorica, Angela R Omilian, Thaer Khoury, Wiam Bshara, Elisa V Bandera, Chi-Chen Hong, Yara Abdou, Jo L Freudenheim, Anselm J M Hennis, Katie M O'Brien, Gary R Zirpoli, Ebonee N Butler, John Oladapo Obafunwa, Clarice R Weinberg, Dezheng Huo, Bingshan Li, Xingyi Guo, Julie R Palmer, Christopher A Haiman, Wei Zheng, Song Yao, Christine B Ambrosone","doi":"10.1158/1055-9965.EPI-25-0454","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0454","url":null,"abstract":"<p><strong>Background: </strong>Immune response in blood varies by ancestry, linked to an African-specific variant (rs2814778) in DARC/ACKR1. We examined associations between rs2814778, CD8+ T cell density in breast tumors, and breast cancer risk in African-American/Black women.</p><p><strong>Methods: </strong>CD8+ T-cell density in tumors from 428 Black women were examined in relation to the rs2814778 variant. In the African Ancestry Breast Cancer Genetics Consortium (AABCG) with 16,886 cases and 18,044 controls, rs2814778 was evaluated in relation to risk of overall breast cancer and to more aggressive subtypes (ER- and TNBC).</p><p><strong>Results: </strong>Women with the African-specific CC genotype had lower tumor CD8+ T-cell density (87.0 per mm2) than those with TT genotypes (146.6 per mm2; p< 0.05). Each T allele was significantly associated with an increase in T-cell density (p=0.04). In the largest analysis, to date, there were no associations between rs2814778 and risk of overall breast cancer [OR=0.90 (95% CI 0.66-1.22)], or with ER- [OR=0.86 (95% CI 0.68-1.08)] or TNBC [OR=0.77 (95% CI 0.56-1.05)].</p><p><strong>Conclusions: </strong>Although breast tumors from women with the African-specific DARC C allele had lower CD8+ T-cell density levels than those with T alleles, in a large breast cancer consortium with adequate statistical power, the variant was not associated with breast cancer risk overall, nor with risk of ER- or TNBC as previously hypothesized.</p><p><strong>Impact: </strong>Although the 'Duffy-null' allele has been the focus of research as a contributor to aggressive breast cancer in Black women, this study with 34,930 cases and controls found no associations with risk.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144586165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An analytic pipeline to obtain reliable genetic ancestry estimates from tumor-derived RNA sequencing data.","authors":"Courtney E Johnson, Ximing Ran, Julia Wrobel, Natalie R Davidson, Casey S Greene, Michael P Epstein, Jeffrey R Marks, Lauren C Peres, Jennifer A Doherty, Joellen M Schildkraut","doi":"10.1158/1055-9965.EPI-25-0371","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0371","url":null,"abstract":"<p><strong>Background: </strong>Germline genetics may influence tumor molecular characteristics and ultimately cancer survival. Studies of tumor characteristics, including our epithelial ovarian cancer (EOC) studies of Black women in the United States, may have RNASeq data from archival tumor tissue but lack germline DNA for at least some individuals. Incomplete germline DNA measurements impede analyses of important measures like global genetic ancestry, often used in downstream analyses, by reducing sample sizes.</p><p><strong>Methods: </strong>The study population consists of 184 women who participated in two population-based studies of EOC with both germline and formalin-fixed paraffin-embedded (FFPE) tumor samples and an additional 58 women diagnosed with EOC from the same two studies with only FFPE tumor tissue. We used tumor RNASeq data to calculate proportions of African, European, and Asian genetic ancestry using a pipeline built on the packages SeqKit, HISAT2, SAMtools, BCFtools, plink, and ADMIXTURE. Women from the 1000 Genomes Project were used as the reference populations, and germline genetic ancestry estimates from blood or saliva were used as the baseline comparison. We evaluated multiple quality control strategies to improve genetic ancestry estimation.</p><p><strong>Results: </strong>Correlations between tumor RNASeq-derived estimates of genetic ancestry from our pipeline and germline-derived African and European genetic ancestry ranged between 0.76-0.94.</p><p><strong>Conclusions: </strong>RNASeq data from archival FFPE tumor tissue can be confidently and efficiently used to approximate global genetic ancestry in an admixed population when germline DNA is unavailable.</p><p><strong>Impact: </strong>This approach supports analyses of genetic ancestry and cancer when germline samples are not available.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A blood metabolic signature of a healthy lifestyle and colorectal cancer risk: results from cohort and Mendelian randomization studies.","authors":"Fangcheng Yuan, Yu Shuai, Wanqing Wen, Guochong Jia, Rikje Ruiter, Shuai Xu, Yaohua Yang, Jirong Long, Mohsen Ghanbari, Xiao-Ou Shu, Danxia Yu, Wei Zheng","doi":"10.1158/1055-9965.EPI-25-0196","DOIUrl":"https://doi.org/10.1158/1055-9965.EPI-25-0196","url":null,"abstract":"<p><strong>Background: </strong>Despite a healthy lifestyle being linked to reduced colorectal cancer (CRC) risk, prior studies using surveys to measure lifestyle factors failed to consider potential inter-individual heterogeneity in metabolic responses. We aimed to characterize a metabolic signature as a measure of metabolic responses to a healthy lifestyle and evaluate its association with CRC risk.</p><p><strong>Methods: </strong>Among 211,135 UK Biobank participants, we derived a healthy lifestyle score (HLS) from eight lifestyle components and applied elastic net regression to derive its metabolic signature from 249 biomarkers in plasma samples collected at baseline. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for the association of the signature with CRC risk. To infer potential causality of the signature, we conducted a genome-wide association study among 184,765 UK Biobank participants of European ancestry, followed by a two-sample Mendelian randomization (MR) analysis in 78,473 CRC cases and 107,143 controls of European ancestry.</p><p><strong>Results: </strong>The metabolic signature, which explained 32.6% of the total variance in HLS, was associated with 12% lower CRC risk (HR=0.88; 95% CI=0.84-0.92 per standard deviation [SD] increase; Ptrend<0.001). MR results provided strong evidence for a potential causal association of the signature with CRC (odds ratio [OR]=0.90; 95% CI=0.84-0.95 per SD increase; P-value<0.001).</p><p><strong>Conclusions: </strong>A metabolic signature characterizing a healthy lifestyle was inversely associated with CRC risk. Certain biomarkers constituting the signature may be involved in the lifestyle pathway for CRC incidence.</p><p><strong>Impact: </strong>Our study further supported lifestyle modifications and identified potential targets for CRC prevention.</p>","PeriodicalId":520580,"journal":{"name":"Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}