Journal of the National Cancer Institute最新文献_第5页

Making the Case for an International Childhood Cancer Data Partnership 建立国际儿童癌症数据伙伴关系的理由

Journal of the National Cancer Institute Pub Date : 2025-01-12 DOI: 10.1093/jnci/djaf003

Gonçalo Forjaz, Betsy Kohler, Michel P Coleman, Eva Steliarova-Foucher, Serban Negoita, Jaime M Guidry Auvil, Fernanda Silva Michels, Johanna Goderre, Charles Wiggins, Eric B Durbin, Gijs Geleijnse, Marie-Charlotte Henrion, Candice Altmayer, Thomas Dubois, Lynne Penberthy

{"title":"Making the Case for an International Childhood Cancer Data Partnership","authors":"Gonçalo Forjaz, Betsy Kohler, Michel P Coleman, Eva Steliarova-Foucher, Serban Negoita, Jaime M Guidry Auvil, Fernanda Silva Michels, Johanna Goderre, Charles Wiggins, Eric B Durbin, Gijs Geleijnse, Marie-Charlotte Henrion, Candice Altmayer, Thomas Dubois, Lynne Penberthy","doi":"10.1093/jnci/djaf003","DOIUrl":"https://doi.org/10.1093/jnci/djaf003","url":null,"abstract":"Childhood cancers are a heterogeneous group of rare diseases, accounting for less than 2% of all cancers diagnosed worldwide. Most countries, therefore, do not have enough cases to provide robust information on epidemiology, treatment, and late effects, especially for rarer types of cancer. Thus, only through a concerted effort to share data internationally will we be able to answer research questions that could not otherwise be answered. With this goal in mind, the U.S. National Cancer Institute and the French National Cancer Institute co-sponsored the Paris Conference for an International Childhood Cancer Data Partnership in November 2023. This meeting convened more than 200 participants from 17 countries to address complex challenges in pediatric cancer research and data sharing. This Commentary delves into some key topics discussed during the Paris Conference and describes pilots that will help move this international effort forward. Main topics presented include: 1) the wide variation in interpreting the European Union's General Data Protection Regulation among Member States; 2) obstacles with transferring personal health data outside of the European Union; 3) standardization and harmonization, including common data models; and 4) novel approaches to data sharing such as federated querying and federated learning. We finally provide a brief description of three ongoing pilot projects. The International Childhood Cancer Data Partnership is the first step in developing a process to better support pediatric cancer research internationally through combining data from multiple countries.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"47 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142968218","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

Temporal Trends of Subsequent CNS Malignancies Among Survivors of Childhood Cancer 儿童癌症幸存者随后中枢神经系统恶性肿瘤的时间趋势

Journal of the National Cancer Institute Pub Date : 2025-01-10 DOI: 10.1093/jnci/djaf005

Robert T Galvin, Yan Chen, Yan Yuan, Tabitha Cooney, Rebecca Howell, Susan Smith, Michael A Arnold, Miriam Conces, Wendy Leisenring, Gregory T Armstrong, Joseph P Neglia, Lucie M Turcotte

{"title":"Temporal Trends of Subsequent CNS Malignancies Among Survivors of Childhood Cancer","authors":"Robert T Galvin, Yan Chen, Yan Yuan, Tabitha Cooney, Rebecca Howell, Susan Smith, Michael A Arnold, Miriam Conces, Wendy Leisenring, Gregory T Armstrong, Joseph P Neglia, Lucie M Turcotte","doi":"10.1093/jnci/djaf005","DOIUrl":"https://doi.org/10.1093/jnci/djaf005","url":null,"abstract":"PURPOSE It is not known whether temporal changes in childhood cancer therapy have reduced risk of subsequent malignant neoplasms (SMNs) of the central nervous system (CNS), a frequently fatal late effect of cancer therapy. METHODS Five-year survivors of primary childhood cancers diagnosed between 1970-1999 in the Childhood Cancer Survivor Study with a subsequent CNS SMN were identified. Cumulative incidence rates and standardized incidence ratios (SIR) were compared among survivors diagnosed between 1970-1979 (N = 6223), 1980-1989 (N = 9680), and 1990–1999 (N = 8999). Multivariable models assessed risk factors for CNS SMN. RESULTS 157 CNS SMNs (1970s, 52; 1980s, 63; 1990s, 42) were identified, excluding meningiomas, which were most often malignant gliomas. The proportion of survivors receiving any cranial radiotherapy (CRT) exposure was reduced over time (1970s 77.0%, 1980s 54.3%, 1990s 33.9%), while the proportion receiving &gt;35Gy CRT showed a smaller reduction (11.4%, 10.8%, and 8.5%, respectively). Twenty-year cumulative incidence (95% CI) and SIR (95% CI) for CNS SMN by treatment decade were 0.32% (0.18-0.46%) and 6.6 (5.0–8.7); 0.55% (0.41-0.70%) and 8.3 (6.6-10.4); and 0.43% (0.31-0.55%) and 9.2 (7.0–12.0), respectively, with no statistically significant decreases between eras. Multivariable analyses showed increased risk for CRT dose levels &gt;10Gy and for primary diagnoses of medulloblastoma/PNET (HR 18.7, 9.2-37.9) and astrocytoma (HR 10.1, 5.3-19.5). Three-year cumulative incidence of death after CNS SMN, by treatment decade, were 76%, 74%, and 73%, respectively. CONCLUSION CNS SMN incidence has not decreased despite fewer survivors exposed to CNS-directed radiotherapy. CNS SMNs remain a substantial source of mortality for affected patients.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"83 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142939660","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

Disparities in cervical cancer elimination timeframes in the United States: a comparative modeling study 美国宫颈癌消除时间框架的差异：一项比较模型研究

Journal of the National Cancer Institute Pub Date : 2025-01-09 DOI: 10.1093/jnci/djae319

Emily A Burger, Erik E L Jansen, Daniël de Bondt, James Killen, Jennifer C Spencer, Mary Caroline Regan, Megan A Smith, Stephen Sy, Karen Canfell, Inge M C M de Kok, Jane J Kim, Jan A C Hontelez

{"title":"Disparities in cervical cancer elimination timeframes in the United States: a comparative modeling study","authors":"Emily A Burger, Erik E L Jansen, Daniël de Bondt, James Killen, Jennifer C Spencer, Mary Caroline Regan, Megan A Smith, Stephen Sy, Karen Canfell, Inge M C M de Kok, Jane J Kim, Jan A C Hontelez","doi":"10.1093/jnci/djae319","DOIUrl":"https://doi.org/10.1093/jnci/djae319","url":null,"abstract":"Population-level estimates in timeframes for reaching cervical cancer (CC) elimination (ie, &lt;4 cases per 100,000 women) in the United States may mask potential disparities in achieving elimination among sub-populations. We used three independent Cancer Intervention and Surveillance Modeling Network (CISNET) models to estimate differences in the time to CC elimination across seven strata of correlated screening and human papillomavirus vaccination uptake, based on national survey data. Compared to the average population, elimination was achieved ≥22 years earlier for the high-uptake strata and ≥27 years later for the most extreme low-uptake strata. Accounting for correlated uptake impacted the population average timeframe by ≤ 1 year. Consequently, national average elimination timeframes mask substantial disparities in reaching elimination among sub-populations. Addressing inequalities in CC control could shorten elimination timeframes and would ensure more equitable elimination across populations. Furthermore, country-level elimination monitoring could be supplemented by monitoring progress in sub-populations.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142962794","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

Childbirth after cancer among 42,896 male adolescents and young adults: a population-based study 42,896名男性青少年和年轻人癌症后分娩：一项基于人群的研究

Journal of the National Cancer Institute Pub Date : 2025-01-02 DOI: 10.1093/jnci/djae347

Caitlin C Murphy, Jennifer S Wang, Andrea C Betts, Philip J Lupo, L Aubree Shay, Marlyn A Allicock, Caroline L Kirk, Sandi L Pruitt

{"title":"Childbirth after cancer among 42,896 male adolescents and young adults: a population-based study","authors":"Caitlin C Murphy, Jennifer S Wang, Andrea C Betts, Philip J Lupo, L Aubree Shay, Marlyn A Allicock, Caroline L Kirk, Sandi L Pruitt","doi":"10.1093/jnci/djae347","DOIUrl":"https://doi.org/10.1093/jnci/djae347","url":null,"abstract":"Background Few studies have examined childbirth and adverse perinatal outcomes among male adolescents and young adults with cancer (AYAs, diagnosed at age 15-39 years). We conducted a population-based assessment of these outcomes in a large, diverse sample. Methods Male AYAs diagnosed between January 1, 1995 and December 31, 2015 were identified using the Texas Cancer Registry and linked to live birth certificates and the Texas Birth Defects Registry through December 31, 2016. Cumulative incidence of live birth after diagnosis was estimated. Log binomial regression models were used to estimate prevalence of preterm birth (&lt;37 weeks), low birth weight (&lt;2,500 grams), small for gestational age (&lt;10th percentile), and any birth defect among liveborn offspring of male AYAs compared to age- and race/ethnicity-matched men without cancer. Results We identified 42,896 male AYAs, among whom germ cell cancers (20.0%) were the most common. There were 9,686 live births to 6,833 male AYAs after diagnosis. Cumulative incidence of live birth was 18.0% (95% CI 17.6, 18.4) at ten years after diagnosis. Ten-year cumulative incidence differed by cancer type (p &lt; .01) and was highest for thyroid (27.6%, 95% CI 25.4, 29.9) but lowest for gastrointestinal (9.6%, 95% CI 8.1, 10.6) cancer. Prevalence of preterm birth (8.9 vs. 8.0%, p = .02) and low birth weight (6.0 vs. 5.3%, p = .02) was higher for liveborn offspring of male AYAs compared to men without cancer. There was no difference in prevalence of birth defects (4.9 vs. 4.8%, p = .64). Conclusions Our findings underscore the continued importance of reproductive counseling for AYAs.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"116 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924963","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

An Intersectional Analysis of Behavioral Financial Hardship and Healthcare Utilization among LGBTQ+ Cancer Survivors LGBTQ+癌症幸存者的行为经济困难和医疗保健利用的交叉分析

Journal of the National Cancer Institute Pub Date : 2025-01-02 DOI: 10.1093/jnci/djae350

Austin R Waters, Stephanie B Wheeler, Jeremey Fine, Christabel K Cheung, Kelly R Tan, Donald L Rosenstein, Mya L Roberson, Erin E Kent

{"title":"An Intersectional Analysis of Behavioral Financial Hardship and Healthcare Utilization among LGBTQ+ Cancer Survivors","authors":"Austin R Waters, Stephanie B Wheeler, Jeremey Fine, Christabel K Cheung, Kelly R Tan, Donald L Rosenstein, Mya L Roberson, Erin E Kent","doi":"10.1093/jnci/djae350","DOIUrl":"https://doi.org/10.1093/jnci/djae350","url":null,"abstract":"Background lesbian, gay, bisexual, transgender, queer, or another non-heterosexual or cisgender identity (LGBTQ+) cancer survivors experience high financial hardship. However, structural drivers of inequities do not impact all LGBTQ+ individuals equally. Using All of Us data, we conducted an intersectional analysis of behavioral financial hardship among LGBTQ+ cancer survivors. Methods LGBTQ+ inequities in behavioral financial hardship (ie, cost-related foregone care, delayed care, and medication alterations) and non-cost-related delayed care were estimated using All of Us Data. Multivariable logit models were used to generate predicted probabilities, average marginal effects (AME), and 95% confidence intervals. Models were then used to estimate inequities when disaggregating LGBTQ+ status and combing LGBTQ+ status with age, race, ethnicity, and treatment status. Results This analysis included N = 36,217 cancer survivors (6.6%, n = 2,399 LGBTQ+). In multivariable models, LGBTQ+ identity was associated with higher probabilities of and significant AME for all types of behavioral financial hardship (foregone care 31.1% vs. 19.4%; delayed care 22.6% vs. 15.6%; medication alterations 19.2% vs. 11.9%) and non-cost delayed care (14.3% vs. 7.2%). Within the disaggregated analysis, cisgender bisexual and another/multiple orientation women and gender minority survivors had the highest predicted probabilities of all outcomes. In intersectional analyses, survivors who were aged 18-39 and LGBTQ+, Black and LGBTQ+, or Hispanic/Latine and LGBTQ+ had the highest predicted probabilities of all outcomes. Conclusions LGBTQ+ cancer survivors experience significantly more behavioral financial hardship and non-cost-related delayed care then non-LGBTQ+ cancer survivors. Interventions at the individual, system, and policy level are needed to address LGBTQ+ inequities in financial hardship.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142917832","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

Timing of depression in relation to risk of ovarian cancer 抑郁症与卵巢癌风险的时间关系

Journal of the National Cancer Institute Pub Date : 2025-01-02 DOI: 10.1093/jnci/djae348

Andrea L Roberts, Mary K Townsend, Lori B Chibnik, Laura D Kubzansky, Shelley S Tworoger

{"title":"Timing of depression in relation to risk of ovarian cancer","authors":"Andrea L Roberts, Mary K Townsend, Lori B Chibnik, Laura D Kubzansky, Shelley S Tworoger","doi":"10.1093/jnci/djae348","DOIUrl":"https://doi.org/10.1093/jnci/djae348","url":null,"abstract":"Objective Several studies have suggested that depression may be associated with increased risk of ovarian cancer. Less is known about whether timing matters regarding when depression occurs. To provide evidence for an etiologically relevant exposure period, we examined depression occurring during the time in which precursor lesions develop and progress to invasive carcinoma with risk of developing ovarian cancer. Methods Using data from two prospective cohorts (1992-2015), we divided follow-up into consecutive two-year periods for analytic purposes, referred to as “cancer ascertainment periods.” We estimated associations of depression in the 10 years before each cancer ascertainment period with incident cancer, using Cox proportional hazards models. Next, we estimated associations of depression occurring up to 18 years before each ascertainment period, in two-year increments, with incident cancer. We adjusted for demographic, health, and behavioral factors. All tests of statistical significance were 2-sided, with a p-value threshold of &lt; 0.05. Results Depression occurring in the 10 prior years was associated with 30% greater risk of cancer (hazard ratio (HR)=1.30, 95% confidence interval (CI)=1.15-1.46). Associations were similar in fully adjusted models (HR = 1.27). Depression occurring in the 14 years before ascertainment was associated with elevated risk, although only estimates for depression 0-2, 6-8, and 8-10 years before ascertainment reached statistical significance (HR range, 1.20-1.36). Conclusion Depression occurring up to 14 years before cancer ascertainment was associated with greater cancer risk. This is the time of precursor progression to invasive ovarian carcinoma, suggesting depression may be an ovarian cancer promoting agent.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142917407","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

Correction to: Delta-Like Ligand 4-Notch Blockade and Tumor Radiation Response. 修正：δ样配体4-Notch阻断与肿瘤辐射反应。

Journal of the National Cancer Institute Pub Date : 2024-12-26 DOI: 10.1093/jnci/djae337

引用次数: 0

Gynecologic cancer clinical trial eligibility criteria as a marker for equitable clinical trial access 妇科癌症临床试验资格标准作为公平临床试验准入的标志

Journal of the National Cancer Institute Pub Date : 2024-12-19 DOI: 10.1093/jnci/djae338

Ann Oluloro, Elizabeth M Swisher, Heidi J Gray, Barbara Goff, Kemi M Doll

{"title":"Gynecologic cancer clinical trial eligibility criteria as a marker for equitable clinical trial access","authors":"Ann Oluloro, Elizabeth M Swisher, Heidi J Gray, Barbara Goff, Kemi M Doll","doi":"10.1093/jnci/djae338","DOIUrl":"https://doi.org/10.1093/jnci/djae338","url":null,"abstract":"Background Racial and ethnic minorities remain underrepresented in gynecologic cancer clinical trials despite disproportionately worse oncologic outcomes. Research shows differential racial enrollment patterns due to comorbidity-based exclusion criteria (CEC). Our objective was to evaluate contemporary trends in CECs among NCI-sponsored gynecologic cancer clinical trials and protocol adherence to broadened eligibility criteria guidelines as an assessment of equitable enrollment access. Methods The ClinicalTrials.gov registry was queried for NCI-sponsored gynecologic cancer clinical trials (1994-2021). Study characteristics and CECs were abstracted from protocols. Descriptive statistics and temporal trends were calculated using chi-square testing with STATA v17 software. Results Among 279 clinical trials identified, 65% completed enrollment, 53% were Phase II, and 48% focused on ovarian cancer. Pharmaceutical agents (85%) were the primary therapeutic interventions. Several inequitably restrictive exclusion criteria increased over time such as hepatitis infection (17% in 1994-2000 vs 49% in 2015-2021, p &lt; .001) and cardiovascular disease (47% in 1994-2000 vs 66% in 2015-2021, p = .002). A previously rare exclusion, “mental illness/social situations,” dramatically increased from 5% to 51% (p &lt; .001) over three decades. Adherence to broadened eligibility criteria recommendations was mixed. Renal function, cardiovascular disease, and performance status criteria were not broadened but HIV, prior/concurrent malignancies, and brain metastasis criteria were. Conclusions Some, but not all, of the known restrictive CECs have increased in gynecologic cancer clinical trial design, despite calls for improving racial and ethnic minority representation. While exclusion criteria are critical for trial safety, they must be carefully considered given the differential racial impact on eligibility.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"86 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142858417","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

Drinking pattern and time lag of alcohol consumption with colorectal cancer risk in US men and women 美国男性和女性的饮酒模式和饮酒时间与结直肠癌风险的关系

Journal of the National Cancer Institute Pub Date : 2024-12-17 DOI: 10.1093/jnci/djae330

Xinyi Li, Jinhee Hur, Yin Zhang, Mingyang Song, Stephanie A Smith-Warner, Liming Liang, Kenneth J Mukamal, Eric B Rimm, Edward L Giovannucci

{"title":"Drinking pattern and time lag of alcohol consumption with colorectal cancer risk in US men and women","authors":"Xinyi Li, Jinhee Hur, Yin Zhang, Mingyang Song, Stephanie A Smith-Warner, Liming Liang, Kenneth J Mukamal, Eric B Rimm, Edward L Giovannucci","doi":"10.1093/jnci/djae330","DOIUrl":"https://doi.org/10.1093/jnci/djae330","url":null,"abstract":"Background Association between light to moderate alcohol consumption and colorectal cancer (CRC) incidence remains understudied, especially regarding drinking pattern, beverage type and temporal aspects. Methods Hazard ratios (HRs) and 95% confidence intervals (CIs) for time to CRC diagnosis were estimated among 137,710 participants. Estimates based on remote (eg, &gt;10 years before follow-up) and recent (eg, the preceding 10 years before follow-up) alcohol intake, using different cutoffs (eg, 8, 10, 12 years, etc) and mutual adjustment, enabled separating independent effects and investigating time lag of alcohol-CRC association. Results 3,599 CRC cases were documented over three decades. Light to moderate drinking was associated with an increased CRC risk only in men: HR (95% CI) for 5-14.9 and 15-29.9 vs 0 g/day of alcohol intake was 1.19 (1.01, 1.41) and 1.38 (1.13, 1.67). In women, that for 0.1-4.9 and 5-14.9 vs 0 g/day of alcohol was 1.07 (0.96, 1.20) and 1.05 (0.91, 1.20). Drinkers with both high drinking frequency and daily intake had the highest CRC risk, suggesting total alcohol intake was the critical factor. We estimated the time lag between alcohol consumption and CRC occurrence to be 8 to 12 years. Former drinkers did not experience a significant reduction in CRC risk even after 10 years of quitting or reducing consumption. Conclusions Based on two cohorts of health professionals, our findings suggest that the increased risk of CRC associated with alcohol intake is mainly driven by total quantity and remote intake. Former drinkers did not experience an immediate reduction in CRC risk after quitting or reducing consumption.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"58 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142841556","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

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers TP53错义等位基因易患乳腺癌，但不易患儿科癌症

Journal of the National Cancer Institute Pub Date : 2024-12-14 DOI: 10.1093/jnci/djae334

Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, Tom Walsh, Ming K Lee, Suleyman Gulsuner, Grace Rabie, Rachel Beeri, Amal Aburayyan, Jessica B Mandell, Hila Fridman, Galit Lazer-Derbeko, Tehila Klopstock, Orit Freireich, Amnon Lahad, Mary-Claire King, Ephrat Levy-Lahad, Moien N Kanaan

{"title":"TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers","authors":"Suhair Lolas-Hamameh, Sari Lieberman, Alaa Sarahneh, Tom Walsh, Ming K Lee, Suleyman Gulsuner, Grace Rabie, Rachel Beeri, Amal Aburayyan, Jessica B Mandell, Hila Fridman, Galit Lazer-Derbeko, Tehila Klopstock, Orit Freireich, Amnon Lahad, Mary-Claire King, Ephrat Levy-Lahad, Moien N Kanaan","doi":"10.1093/jnci/djae334","DOIUrl":"https://doi.org/10.1093/jnci/djae334","url":null,"abstract":"Pathogenic TP53 germline variants cause young-onset breast cancer and other cancers of the Li-Fraumeni syndrome (LFS) spectrum, but the clinical consequences of partial-loss-of function TP53 variants are incompletely understood. In the consecutive cohort of Palestinian breast cancer patients of the Middle East Breast Cancer Study (MEBCS), breast cancer risk among TP53 p. R181C heterozygotes was 50% by age 50 y and 81% by age 80 y. In contrast, prevalence of pediatric cancers in the MEBCS was similar among first degree relatives of TP53 p. R181C carriers (3/519 = 0.0058) and first degree relatives of MEBCS patients with no pathogenic germline variant in any known breast cancer gene (7/1082 = 0.0065; OR = 0.90, 95%CI [0.23,3.49], Fisher P = .90 (2-tailed)). This result suggests that in families harboring this TP53 allele, genetic testing in children is unwarranted, and screening children for LFS tumors is unnecessary. More generally, some TP53 missense alleles can predispose to very high risk of breast cancer without pleiotropic effects.","PeriodicalId":501635,"journal":{"name":"Journal of the National Cancer Institute","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142823185","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