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Evaluating benefit-to-burden ratios of the established and emerging colorectal cancer screening strategies. 评估现有和新出现的结直肠癌筛查策略的收益-负担比率。
Journal of the National Cancer Institute Pub Date : 2025-10-01 DOI: 10.1093/jnci/djaf209
Derek W Ebner,A Mark Fendrick,John B Kisiel,Chris Estes,Vahab Vahdat,A Burak Ozbay,Paul J Limburg
{"title":"Evaluating benefit-to-burden ratios of the established and emerging colorectal cancer screening strategies.","authors":"Derek W Ebner,A Mark Fendrick,John B Kisiel,Chris Estes,Vahab Vahdat,A Burak Ozbay,Paul J Limburg","doi":"10.1093/jnci/djaf209","DOIUrl":"https://doi.org/10.1093/jnci/djaf209","url":null,"abstract":"BACKGROUNDRecommended noninvasive strategies for average-risk colorectal cancer (CRC) screening include multitarget stool DNA and fecal immunochemical test from ages 45 to 75 years. With new clinical trials, performance data for next-generation multitarget stool DNA, multitarget stool RNA, and blood-based screening tests are now available. This decision analytical model study evaluated the estimated benefit-to-burden ratio by means of efficient frontiers for noninvasive established and emerging CRC screening strategies.METHODSOutcomes were estimated using the Colorectal Cancer and Adenoma Incidence and Mortality microsimulation model for average-risk individuals in the United States. Screening strategies were next-generation multitarget stool DNA (an updated marker panel), fecal immunochemical tests, multitarget stool RNA, or blood-based tests every 1-3 years, over various age ranges. Test performance inputs were derived from recent large clinical trials. A strategy was deemed efficient if no other strategy provided more life-years gained with equivalent or fewer lifetime colonoscopies and near-efficient if within 3 days of life-years gained of the efficient frontier.RESULTSAll modeled screening strategies resulted in life-years gained vs no screening. No strategy using blood-based tests was efficient or near-efficient. Overall, 10 strategies were efficient (6 next-generation multitarget stool DNA and 4 fecal immunochemical tests), including 2 strategies among those ages 45-75 years (biennial and triennial next-generation multitarget stool DNA). Overall, 22 strategies were near-efficient, including 4 strategies among those ages 45-75 years (annual, biennial, or triennial fecal immunochemical test; annual next-generation multitarget stool DNA).CONCLUSIONBased on this modeling study, next-generation multitarget stool DNA was the only noninvasive screening test at guideline-endorsed interval and age-recommended ranges that was deemed efficient. Blood-based and multitarget stool RNA strategies were deemed not efficient for primary screening.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"24 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194756","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}
引用次数: 0
Comparative benefits, burdens and harms of emerging blood-based tests for colorectal cancer screening 用于结直肠癌筛查的新血液检测的比较益处、负担和危害
Journal of the National Cancer Institute Pub Date : 2025-10-01 DOI: 10.1093/jnci/djaf277
Reinier G S Meester, Andrew J Piscitello, Joseph A Duimstra, Peter S Liang, Aasma Shaukat, Theodore R Levin
{"title":"Comparative benefits, burdens and harms of emerging blood-based tests for colorectal cancer screening","authors":"Reinier G S Meester, Andrew J Piscitello, Joseph A Duimstra, Peter S Liang, Aasma Shaukat, Theodore R Levin","doi":"10.1093/jnci/djaf277","DOIUrl":"https://doi.org/10.1093/jnci/djaf277","url":null,"abstract":"Background Emerging blood tests may improve colorectal cancer (CRC) screening uptake and outcomes but are less sensitive for advanced precancerous lesions than some currently recommended tests. We examine whether these tests meet expectations for U.S. Preventive Services Task Force (USPSTF) recommendation. Methods A decision-analytic model that informed USPSTF was replicated and used to estimate the lifetime benefits (averted CRC cases & deaths, life-years gained [LYG]), burdens (required screening tests & colonoscopies), and harms (colonoscopy-related complications) for annual, biennial or triennial blood testing through age 45-75 years vs a benchmark of recommended and contemporary stool-based strategies, with colonoscopy screening as the reference. Base-case analyses assumed 100% adherence. Sensitivity analyses evaluated more realistic scenarios. Results Among benchmark strategies, colonoscopy screening had the most benefit, with an estimated 30 CRC deaths averted, 356 LYG, 4270 colonoscopies required and 15 complications per 1000 adults; stool-based strategies resulted in 81–88% of LYG for colonoscopy, 6829–19,476 screening tests, 1523–1880 colonoscopies, and 9–10 complications. By comparison, annual blood testing resulted in 85–87% of LYG for colonoscopy and an intermediate number of screenings, colonoscopies and complications. Biennial and triennial blood testing provided 57–72% of LYG for colonoscopy but resulted in net population benefit under plausible scenarios for increased utilization vs existing strategies. Conclusions The estimated benefits, burdens and harms of annual blood testing are within the range of current CRC screening strategies. Biennial and triennial testing should also be considered for recommendation given potential for increased utilization and net population benefit.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145228735","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}
引用次数: 0
Proteomic aging clocks and the risk of mortality among long-term cancer survivors. 蛋白质组老化时钟和长期癌症幸存者的死亡风险。
Journal of the National Cancer Institute Pub Date : 2025-10-01 DOI: 10.1093/jnci/djaf286
Shuo Wang,Zexi Rao,Anne H Blaes,Josef Coresh,Corinne E Joshu,James S Pankow,Bharat Thyagarajan,Ruth Dubin,Rajat Deo,Seamus P Whelton,Michael J Blaha,Catherine H Marshall,Jerome I Rotter,Peter Ganz,Weihua Guan,Elizabeth A Platz,Anna Prizment
{"title":"Proteomic aging clocks and the risk of mortality among long-term cancer survivors.","authors":"Shuo Wang,Zexi Rao,Anne H Blaes,Josef Coresh,Corinne E Joshu,James S Pankow,Bharat Thyagarajan,Ruth Dubin,Rajat Deo,Seamus P Whelton,Michael J Blaha,Catherine H Marshall,Jerome I Rotter,Peter Ganz,Weihua Guan,Elizabeth A Platz,Anna Prizment","doi":"10.1093/jnci/djaf286","DOIUrl":"https://doi.org/10.1093/jnci/djaf286","url":null,"abstract":"BACKGROUNDTo estimate biological age, we developed a proteomic aging clock in cancer-free participants (CaPAC) and examined its association with mortality in long-term cancer survivors (LTCS, >2 years between cancer diagnosis and blood collection) and cancer-free participants in the Atherosclerosis Risk in Communities (ARIC) and Multi-Ethnic Study of Atherosclerosis (MESA) studies.METHODSARIC measured 4,712 proteins using SomaScan in plasma samples collected at three visits, including Visit 5 (2011-13) from 806 LTCS and 3,699 cancer-free participants, all aged 66-90. Among 2,466 randomly selected cancer-free participants, we developed CaPAC using elastic net regression. Age acceleration was calculated as residuals from CaPAC regressed on chronological age (CaPACAccel). We used multivariable Cox proportional hazards regression to calculate hazard ratios (HRs) for the associations of CaPACAccel with all-cause and cancer mortality in LTCS and all-cause mortality in the remaining cancer-free participants. We replicated the analysis of all-cause mortality in MESA.RESULTSIn LCTS, CaPACAccel was associated with increased all-cause mortality in both ARIC [HR (95% CI) per 1 SD = 1.42 (1.24-1.62), p < .001] and MESA [1.62 (1.12-2.33), p = .009]. Also, in ARIC, CaPACAccel was associated with all-cause mortality in breast [1.54 (1.05-2.25), p = .028] and colorectal LTCS [1.96 (1.19-3.22), p = .008]. Additionally, CaPACAccel was associated with cancer mortality in LTCS [1.34 (1.09-1.64), p = .005] in ARIC. In MESA, limited sample size precluded us from examining individual cancers and cause-specific mortality. In cancer-free participants, the associations of CaPACAccel with all-cause mortality were similar across studies.CONCLUSIONProteomic aging clocks hold promise as a predictor of all-cause and cancer mortality in LTCS.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194702","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}
引用次数: 0
The National Cancer Institute's Cancer Information Service: 50 years of service to the nation. 国家癌症研究所的癌症信息服务:为国家服务了50年。
Journal of the National Cancer Institute Pub Date : 2025-10-01 DOI: 10.1093/jnci/djaf285
Robin C Vanderpool
{"title":"The National Cancer Institute's Cancer Information Service: 50 years of service to the nation.","authors":"Robin C Vanderpool","doi":"10.1093/jnci/djaf285","DOIUrl":"https://doi.org/10.1093/jnci/djaf285","url":null,"abstract":"The National Cancer Institute's (NCI) Cancer Information Service (CIS) was founded in 1975 in accordance with a Congressional mandate requiring NCI to provide accurate, timely, and reliable cancer information to the American public as part of the National Cancer Act. For 50 years, the CIS has provided cancer patients, caregivers, healthcare professionals, and the public with high-quality information and resources on topics across the cancer control continuum, cancer clinical trials, and tobacco use cessation. Throughout its history, the CIS has adapted to changes in the health communication environment and evolving consumer needs, for example, by implementing additional access channels and launching a Spanish-language service to better serve the public. In addition to being a premiere cancer information resource, the CIS is a unique laboratory for health communication research as data collected from the program is routinely used to monitor the public's emerging cancer information needs and to study information seeking patterns across a variety of cancer control topics. This commentary aims to spotlight the role of the CIS as a federal health information resource that has been addressing the public's real-time cancer information needs and responding to national cancer research and public health priorities for over five decades.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"69 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194757","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}
引用次数: 0
Use of hair straighteners and chemical relaxers and incidence of non-reproductive cancers. 使用直发器和化学松弛剂和非生殖癌症的发病率。
Journal of the National Cancer Institute Pub Date : 2025-09-30 DOI: 10.1093/jnci/djaf280
Jared T Bailey,Che-Jung Chang,Symielle A Gaston,Chandra L Jackson,Dale P Sandler,Katie M O'Brien,Alexandra J White
{"title":"Use of hair straighteners and chemical relaxers and incidence of non-reproductive cancers.","authors":"Jared T Bailey,Che-Jung Chang,Symielle A Gaston,Chandra L Jackson,Dale P Sandler,Katie M O'Brien,Alexandra J White","doi":"10.1093/jnci/djaf280","DOIUrl":"https://doi.org/10.1093/jnci/djaf280","url":null,"abstract":"BACKGROUNDUse of hair straighteners and chemical relaxers has been associated with increased incidence of breast, uterine, and ovarian cancers. However, their potential association with non-reproductive cancers remains unknown, despite evidence that some ingredients in these products may be genotoxic. We therefore examined use of hair straighteners/chemical relaxers in relation to the incidence of non-reproductive cancers.MATERIAL AND METHODSWe analyzed data from 46,287 cancer-free women from the Sister Study, a U.S.-wide cohort enrolled between 2003-2009 (ages 35-74). Participants reported frequency of hair straightener/chemical relaxer use in the 12 months prior to enrollment. Incident cancers (melanoma, thyroid, lung, non-Hodgkin's lymphoma, leukemia, pancreatic, colorectal, and kidney cancers) were self-reported and confirmed with pathology reports when possible. We used multivariable Cox proportional hazards models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for hair straighteners/chemical relaxer use and incident cancers, adjusting age, race and ethnicity, educational attainment, and smoking status.RESULTSDuring a median follow-up of 13.1 years, use of hair straighteners/chemical relaxers was associated with a higher incidence of thyroid cancer (n = 225 cases; HR:1.71, 95% CI : 1.01-2.89), non-Hodgkin's lymphoma (n = 313 cases; HR : 1.62, 95% CI : 0.94- 2.80), and pancreatic cancer (n = 138 cases; HR : 2.66, 95% CI: 1.25-5.66). There was little evidence of dose-response with increasing frequency of use. We observed negligible or imprecise associations for the remaining cancer types.CONCLUSIONS AND RELEVANCEUse of hair straighteners/chemical relaxers may be associated with a higher incidence of thyroid cancer, non-Hodgkin's lymphoma, and pancreatic cancer. Further research is needed to confirm these findings.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145188496","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}
引用次数: 0
RecOVARY? Using anti-Müllerian hormone to predict ovarian function after anti-HER2 therapy for early breast cancer. RecOVARY吗?应用抗<s:1>勒氏激素预测早期乳腺癌抗her2治疗后卵巢功能。
Journal of the National Cancer Institute Pub Date : 2025-09-26 DOI: 10.1093/jnci/djaf247
Lynn K Symonds,Nancy E Davidson
{"title":"RecOVARY? Using anti-Müllerian hormone to predict ovarian function after anti-HER2 therapy for early breast cancer.","authors":"Lynn K Symonds,Nancy E Davidson","doi":"10.1093/jnci/djaf247","DOIUrl":"https://doi.org/10.1093/jnci/djaf247","url":null,"abstract":"","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"73 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145153358","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}
引用次数: 0
Diagnostic yield of surveillance mammography among older women. 老年妇女乳房x光检查的诊断率。
Journal of the National Cancer Institute Pub Date : 2025-09-26 DOI: 10.1093/jnci/djaf270
Ilana B Richman,Meghan E Lindsay,Jessica B Long,Eliza Epstein,Meera Sheffrin,Elizabeth R Berger
{"title":"Diagnostic yield of surveillance mammography among older women.","authors":"Ilana B Richman,Meghan E Lindsay,Jessica B Long,Eliza Epstein,Meera Sheffrin,Elizabeth R Berger","doi":"10.1093/jnci/djaf270","DOIUrl":"https://doi.org/10.1093/jnci/djaf270","url":null,"abstract":"BACKGROUNDMammographic surveillance is common among older women with a history of breast cancer, but little is known about imaging outcomes in this population. The goal of this study was to describe short-term outcomes after surveillance mammography among older women, including use of subsequent imaging, cancer diagnosis, and positive predictive value.METHODSThis was a longitudinal cohort study using SEER-Medicare data. We followed women diagnosed with breast cancer between 2003-2007 at age 67 or older until diagnosis of a second primary breast cancer, death, or end of follow up (2019). We used claims to identify surveillance mammograms. Outcomes included subsequent imaging, second primary breast cancer diagnosis, and positive predictive value after surveillance. Outcomes were identified based on proximity to surveillance mammography. We stratified analyses by age and time since diagnosis.RESULTSThe cohort included 33, 607 women who received 160,637 mammograms over a median 12.1 years. Subsequent imaging was performed after 115 per 1000 mammograms (95% CI 114-117) and was similar across ages and time since diagnosis. Second primary breast cancer was diagnosed after 7.1 per 1000 mammograms (95% CI 6.7-7.5) and was similar across ages but generally higher beginning 5 years post diagnosis. Positive predictive value among women with subsequent imaging ranged from 3.7 to 9.2%. Most second primary breast cancers were either in-situ (23.3%) or stage I (57.0%).CONCLUSIONSAlthough surveillance mammography may detect breast cancer even years after diagnosis, surveillance also leads to substantial subsequent testing. Whether continued surveillance at older ages improves health outcomes is uncertain.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145140225","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}
引用次数: 0
Survivorship care and mortality in a contemporary and diverse cohort of childhood cancer survivors. 当代儿童癌症幸存者的生存护理和死亡率。
Journal of the National Cancer Institute Pub Date : 2025-09-26 DOI: 10.1093/jnci/djaf276
Xu Ji,Rebecca S Williamson Lewis,Karen Wasilewski-Masker,Karen E Effinger,Kevin C Ward,Jordan Gilleland Marchak,James L Klosky,Joseph Lipscomb,Ann C Mertens,Sharon M Castellino
{"title":"Survivorship care and mortality in a contemporary and diverse cohort of childhood cancer survivors.","authors":"Xu Ji,Rebecca S Williamson Lewis,Karen Wasilewski-Masker,Karen E Effinger,Kevin C Ward,Jordan Gilleland Marchak,James L Klosky,Joseph Lipscomb,Ann C Mertens,Sharon M Castellino","doi":"10.1093/jnci/djaf276","DOIUrl":"https://doi.org/10.1093/jnci/djaf276","url":null,"abstract":"BACKGROUNDImplementing quality survivorship care for the growing population of cancer survivors is a national priority. The impact of comprehensive survivorship care on survival among childhood cancer survivors is unknown.METHODSThis retrospective analysis included patients eligible for receipt of a survivorship care plan (SCP) in the institutional survivorship program at a comprehensive pediatric cancer center following initial diagnosis between 2002-2016. We followed survivors from eligibility to 10 years, death, or December 31, 2020, whichever occurred earliest. Cox proportional hazards models estimated the association of SCP receipt at an initial survivorship program visit with overall survival (OS) and event-free survival (EFS), adjusting for sociodemographic and cancer-related factors.RESULTSAmong 3,366 survivors, 1,883 (55.9%) received a SCP, at median of 0.67 years (interquartile range [IQR]=0.30-1.67) post-eligibility. Compared to those who received a SCP, survivors without were more likely to be older at eligibility (mean age [standard deviation] 11.8 [6.1] vs 11.2 [5.5] years, p = .002), non-Hispanic Black (29.5% vs 24.8%, p = .006), treated for central nervous system tumors (38.7% vs 12.4%, p < .001), or treated with surgery only (46.8% vs 1.2%, p < .001). Overall, 2.9% of survivors died at a median of 3.6 years (IQR = 2.3-5.4) from eligibility. In multivariable models, SCP receipt (vs non-receipt) was associated with a lower risk of death (OS adjusted hazard ratio [aHR]=0.62, 95% CI = 0.39-0.97, p = .04; EFS: aHR = 0.73, 95% CI = 0.54-0.99, p = .04).CONCLUSIONEngagement in survivorship care, indicated by SCP receipt, was associated with superior overall and event-free survival in childhood cancer survivors, underscoring its importance in improving long-term outcomes.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145140247","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}
引用次数: 0
"While you are on chemotherapy…": common recommendations that lack evidence and may cause harm. “当你在接受化疗时……”:缺乏证据且可能造成伤害的常见建议。
Journal of the National Cancer Institute Pub Date : 2025-09-26 DOI: 10.1093/jnci/djaf239
Brooke E Wilson,Christopher Jackson,Michelle Tregear,Christopher M Booth
{"title":"\"While you are on chemotherapy…\": common recommendations that lack evidence and may cause harm.","authors":"Brooke E Wilson,Christopher Jackson,Michelle Tregear,Christopher M Booth","doi":"10.1093/jnci/djaf239","DOIUrl":"https://doi.org/10.1093/jnci/djaf239","url":null,"abstract":"Patients on chemotherapy often use multiple resources to obtain information on wide-ranging issues including prognosis, treatments, diet, exercise, and safety precautions. Websites from national and international cancer organizations are a common source of information. In this commentary, we discuss the strength of evidence associated with some common recommendations, and provide examples of the unintended consequences of some of this advice. We hope this commentary will stimulate more careful consideration of the risks and benefits when drafting these patient-facing materials.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"18 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145140224","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}
引用次数: 0
SMARCAL1 is a new osteosarcoma predisposition gene. SMARCAL1是一个新的骨肉瘤易感基因。
Journal of the National Cancer Institute Pub Date : 2025-09-25 DOI: 10.1093/jnci/djaf278
Maryam Rafati,Lillian M Guenther,Laura E Egolf,D Matthew Gianferante,Jung Kim,Kevin Wang,Bin Zhu,Logan G Spector,Nathan Anderson,Katherine A Janeway,Donald A Barkauskas,Douglas S Hawkins,Ana Patiño-Garcia,Philip J Lupo,Michael E Scheurer,Lindsay Morton,Gregory T Armstrong,Yadav Sapkota,M Monica Gramatges,Massimo Serra,Claudia Hattinger,Katia Scotlandi,Irene L Andrulis,Jay S Wunder,Mandy L Ballinger,David M Thomas,Meredith Yeager,Michael Dean,Douglas R Stewart,Aurelie Vogt,Jia Liu,Belynda D Hicks,Wen-Yi Huang,Maria Teresa Landi,Adriana Lori,W Ryan Diver,Sharon A Savage,Stephen J Chanock,Lisa Mirabello
{"title":"SMARCAL1 is a new osteosarcoma predisposition gene.","authors":"Maryam Rafati,Lillian M Guenther,Laura E Egolf,D Matthew Gianferante,Jung Kim,Kevin Wang,Bin Zhu,Logan G Spector,Nathan Anderson,Katherine A Janeway,Donald A Barkauskas,Douglas S Hawkins,Ana Patiño-Garcia,Philip J Lupo,Michael E Scheurer,Lindsay Morton,Gregory T Armstrong,Yadav Sapkota,M Monica Gramatges,Massimo Serra,Claudia Hattinger,Katia Scotlandi,Irene L Andrulis,Jay S Wunder,Mandy L Ballinger,David M Thomas,Meredith Yeager,Michael Dean,Douglas R Stewart,Aurelie Vogt,Jia Liu,Belynda D Hicks,Wen-Yi Huang,Maria Teresa Landi,Adriana Lori,W Ryan Diver,Sharon A Savage,Stephen J Chanock,Lisa Mirabello","doi":"10.1093/jnci/djaf278","DOIUrl":"https://doi.org/10.1093/jnci/djaf278","url":null,"abstract":"Osteosarcoma, the most common childhood bone tumor, can occur in rare cancer predisposition syndromes; however, most cases are sporadic with no known predisposing factors. We investigated the frequency of SMARCAL1 putative pathogenic variants in our large ongoing study of 2,119 osteosarcoma cases, their relation to patient characteristics, and the population prevalence. Our analysis uncovered a higher frequency of SMARCAL1 pathogenic variants across three osteosarcoma case sets (1.8%, n = 2,119) than in 2,625 comparably sequenced cancer-free controls (0.3%; P < .001). Cases with SMARCAL1 pathogenic variants had significantly improved overall survival compared to cases without these variants (hazard ratio 0.36, 95% CI 0.14-0.96, P = .034). In the UK Biobank (469,557 exomes), there was a 33-fold increased risk of osteosarcoma in individuals with SMARCAL1 pathogenic variants. These results identify SMARCAL1 as a new osteosarcoma predisposition gene and thus warrant follow-up to identify the mechanisms by which SMARCAL1 contributes to the etiology of osteosarcoma.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"64 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134371","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}
引用次数: 0
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