Familial Cancer最新文献

{"title":"Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas.","authors":"Julia Cooper, Brittany L Stewart, Lauren Bokovitz, Hetty Carraway, Sudipto Mukherjee, David Liska, Sumithira Vasu, Harry Lesmana, James S Blachly","doi":"10.1007/s10689-026-00566-z","DOIUrl":"https://doi.org/10.1007/s10689-026-00566-z","url":null,"abstract":"<p><p>Biallelic pathogenic variants in the MBD4 gene have recently been associated with an autosomal recessive cancer predisposition syndrome deemed \"MBD4-associated neoplasia syndrome (MANS)\". Early reports of individuals with MANS highlight the propensity to develop young onset colorectal polyposis and hyper-mutated acute myeloid leukemia (AML). In the following case series, we present four patients with MANS from three families with polyps and AML, as well as additional features previously less described, such as schwannoma and thyroid cancer. This series increases the total number of reported cases by 27%, with the intention of achieving a more robust understanding of the full phenotypic spectrum of MANS.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.","authors":"Swati G Patel, Holli A Loomans-Kropp, Zachariah H Foda, Bryson W Katona, Suzi Birz, Carol A Burke, Jordan Clawson, Brian Furner, Camille Hochheimer, Elizabeth Magnan, Luigi Ricciardiello, Harminder Singh, Samuel Volchenboum, Michael Watkins, Timothy Yen, Mohammad Abbass, Nicholas J Bartell, Beth Dudley, Luke Engelking, Jose Guillem, Robert Hollis, Gregory Idos, Blake A Jones, Priyanka Kanth, Fay Kastrinos, Dan Li, Aimee L Lucas, Gautam N Mankaney, Jennifer K Maratt, Danielle Marino, Joshua Melson, Long H Nguyen, Kavya M Reddy, Kasmintan A Schrader, Rachel Silva-Smith, Aparajita Singh, Peter P Stanich, Elena M Stoffel, Sapna Syngal, Jennifer M Weiss, Matthew B Yurgelun, Dana Zakalik, Samir Gupta, Ajay Bansal, Sonia S Kupfer","doi":"10.1007/s10689-026-00552-5","DOIUrl":"https://doi.org/10.1007/s10689-026-00552-5","url":null,"abstract":"<p><strong>Background: </strong>The Lynch syndrome INtegrative Epidemiology And GEnetics (LINEAGE) consortium was established to address gaps in understanding genotype-specific cancer risks and risk-modifiers in contemporary North American Lynch syndrome (LS) populations. LINEAGE is a multi-center, longitudinal cohort to systematically collect data on risk factors, adherence to care, quality of surveillance, and patient-, provider-, and system-level factors associated with incident LS-associated cancers.</p><p><strong>Methods: </strong>LINEAGE recruits individuals with confirmed pathogenic or likely pathogenic variants in LS-associated genes from participating institutions. Data includes retrospective and prospective collection, encompassing clinical abstraction (demographics, surgical history, endoscopic data, treatments), patient-reported surveys (behavioral/lifestyle factors, quality of life, procedures), endoscopist-level data, and biosample metadata. A standardized REDCap database, data harmonization protocols, and a virtual biobank support reproducibility and linkage of clinical data and biosamples. Rigorous quality assurance/quality control processes are embedded for data integrity.</p><p><strong>Results: </strong>Participating centers will contribute data to determine gene-specific risks, and gene-environment interactions for Lynch-associated, and other cancers. We will evaluate associations with exposure to, and quality of cancer risk-reduction care, including endoscopic surveillance, risk-reduction surgery, and chemoprevention. The inclusion of provider-level variables, such as endoscopist training and experience, enables unique research into modifiers of post-endoscopy cancer risk. The linked biosample resources will further facilitate mechanistic studies and biomarker discovery.</p><p><strong>Conclusions: </strong>LINEAGE provides a robust platform for advancing LS research by integration of clinical, pathological, epidemiological and genetic data across institutions. Its standardized, collaborative framework enhances the validity and generalizability of risk estimates that will guide decision-making and policy for surveillance to ultimately reduce morbidity and mortality for individuals with Lynch syndrome.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From \"who to test\" to \"who benefits\": equity-by-design guardrails for prostate cancer germline testing at scale.","authors":"M Vijayasimha, M Srikanth","doi":"10.1007/s10689-026-00563-2","DOIUrl":"https://doi.org/10.1007/s10689-026-00563-2","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trends in breast reconstruction for BRCA1/2, PALB2 and other high penetrance germline pathogenic variant carriers undergoing risk reducing mastectomy.","authors":"Amel Melanson, Marya Alsuhaibani, Alex Viezel-Mathieu, Tassos Dionisopoulos, Mark Basik, Jean Francois Boileau, Karyne Martel, Ipshita Prakash, Sarkis Meterissian, Joshua Vorstenbosch, William D Foulkes, Stephanie M Wong","doi":"10.1007/s10689-026-00564-1","DOIUrl":"https://doi.org/10.1007/s10689-026-00564-1","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Five-year psychological impact and surveillance compliance in the Australian Pancreatic Cancer Screening Program.","authors":"Tanya M Dwarte, David K E Chan, Nick Olsen, David B Williams, Anthony J Gill, Alina Stoita","doi":"10.1007/s10689-026-00557-0","DOIUrl":"10.1007/s10689-026-00557-0","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13124842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early detection of urological malignancies in Lynch syndrome: a systematic review.","authors":"B H J Doornweerd, M W Rasmussen","doi":"10.1007/s10689-026-00560-5","DOIUrl":"https://doi.org/10.1007/s10689-026-00560-5","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109156/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual radiation-induced sarcomas after breast cancer in a TP53 variant carrier.","authors":"Riccardo Ricci, Patrice Peyrat, Armelle Dufrene, Giovanni Papa, Maria Adele Dammacco","doi":"10.1007/s10689-026-00556-1","DOIUrl":"https://doi.org/10.1007/s10689-026-00556-1","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?","authors":"Emilie Sjøstrøm, Lise Barlebo Ahlborn, Elisabeth Victoria Eliesen, Karin Wadt, Ulrikke Lei, Anna Byrjalsen","doi":"10.1007/s10689-026-00558-z","DOIUrl":"https://doi.org/10.1007/s10689-026-00558-z","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Hereditary gynecological cancer management in women with Lynch syndrome: a survey across Europe.","authors":"Kevin J J Kwinten, Joanne A de Hullu, Nicoline Hoogerbrugge, Anne M van Altena","doi":"10.1007/s10689-026-00553-4","DOIUrl":"https://doi.org/10.1007/s10689-026-00553-4","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vaccine strategies for cancer prevention in Lynch syndrome: the potential of dendritic cell-based therapy.","authors":"Romy N Kuipers, Mark A J Gorris, Cristina Bayó, Tom Hofland, Daniel Benítez Ribas, Georgina Flórez Grau, Nicoline Hoogerbrugge, Joaquin Castillo, Francesc Balaguer, Tanya M Bisseling, Gerty Schreibelt, I Jolanda M de Vries","doi":"10.1007/s10689-026-00559-y","DOIUrl":"https://doi.org/10.1007/s10689-026-00559-y","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147766904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}