Familial Cancer最新文献

{"title":"Uptake and timing of risk-reducing gynecologic surgery among individuals with Lynch syndrome identified via population screening.","authors":"Jazmine L Gabriel, Michelle Pistner Nixon, Olivia Steinmetz, Gina Rossi, Abigail Glynn, Lavanya Garnepudi, Annum Hayat, Beatriz Abello, Kaitlin Toal, Katrina M Romagnoli","doi":"10.1007/s10689-026-00543-6","DOIUrl":"10.1007/s10689-026-00543-6","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147493784","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":"Factors affecting compliance with pancreas surveillance in patients with familial/genetic risk.","authors":"Emy Abou Sleiman, Hassan Sinan, Eun Ji Shin, Marcia Irene Canto, Michael Goggins","doi":"10.1007/s10689-026-00542-7","DOIUrl":"10.1007/s10689-026-00542-7","url":null,"abstract":"<p><strong>Background: </strong>To achieve early pancreatic cancer detection, patients with familial/genetic predisposition need to maintain regular surveillance with EUS and/or MRI for many years. Factors influencing compliance with pancreatic surveillance compliance are not well understood.</p><p><strong>Methods: </strong>We conducted a one-time cross-sectional survey of patients enrolled in the ongoing Cancer of the Pancreas Screening 5 (CAPS5) study at Johns Hopkins Hospital. Patients answered a 21-item questionnaire that assessed demographic, financial, psychological, and clinical factors that could potentially affect their compliance with pancreatic surveillance. Descriptive, univariate, and multivariate analysis were performed to determine factors independently associated with compliance with surveillance recommendations.</p><p><strong>Results: </strong>The survey was sent to 996 HRI in April 2025; 774 responded (mean respondent age 65.25 ± 10.22 years, 62.3% female); 88.7% reported being compliant. In multivariate analysis, compliance was significantly lower among participants reporting personal, work-related, or logistical challenges with making/keeping appointments (p < 0.01), having significant insurance copayments (p = 0.017), or reporting fear of a pancreatic cancer diagnosis (p = 0.013). Reporting that pancreatic surveillance tests provided reassurance (p = 0.001), or provoked anxiety (p = 0.021) were also associated with higher compliance, as was having a strong support system (p = 0.03). Patients who preferred EUS over MRI were also significantly more likely to report being compliant (p = 0.011). Finally, patients who had undergone cancer susceptibility gene testing were more compliant than those who had not (p = 0.016), though there was no significant difference in compliance rates among gene-test-positive versus gene-test-negative patients (p = 0.82).</p><p><strong>Conclusion: </strong>Recognizing and addressing factors associated with reduced compliance may help improve compliance with pancreatic surveillance.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147480241","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":"Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.","authors":"Kelley Godwin, Joseph McElroy, Leigha Senter, Lindsey Byrne, Mohamed H Abdel-Rahman","doi":"10.1007/s10689-026-00541-8","DOIUrl":"10.1007/s10689-026-00541-8","url":null,"abstract":"<p><p>Germline pathogenic variants in BAP1 are associated with BAP1 tumor predisposition syndrome (BAP1-TPDS), and an increased risk for different cancers and preneoplastic lesions. This study assessed the degrees of patient knowledge of BAP1-TPDS, patient-reported sharing of their genetic test results and diagnosis, and the degree of compliance with current management guidelines. A survey was sent to individuals with a germline pathogenic/likely pathogenic variant in BAP1 who are enrolled in a research registry at The Ohio State University. Knowledge about BAP1-TPDS was assessed utilizing a modified scale (KnowGene). Participants were asked about communication surrounding BAP1-TPDS with family members, and their current cancer surveillance. Forty-two (55%) subjects completed the survey with 25 (60%) having strong 80% knowledge of the syndrome, and 33 (79%) having at least 60% knowledge. All participants reported sharing their genetic result or diagnosis with at least one family member, primarily their first-degree relatives. Most of the cohort had undergone some recommended surveillance for BAP1-TPDS. In conclusion, BAP1-TPDS subjects are knowledgeable about the syndrome phenotype, highly communicative about their diagnosis with family members, and follow some recommended surveillance. Capturing patient-reported outcomes of BAP1-TPDS subjects is crucial for understanding their need for further education, resources, or support.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12996006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147473233","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":"The gut microbiome as a biomarker and modifiable risk factor in Lynch Syndrome.","authors":"Verona Sarena Colaco, Annemarie Boleij","doi":"10.1007/s10689-026-00540-9","DOIUrl":"10.1007/s10689-026-00540-9","url":null,"abstract":"<p><p>Lynch Syndrome (LS) is the most prevalent hereditary colorectal cancer syndrome, driven by germline mutations in DNA mismatch repair genes. Despite intensive colonoscopy surveillance, cancer risk among LS carriers remains highly variable, suggesting additional modifiers beyond genetics. Emerging evidence implicates the gut microbiome as a potential biomarker and modifiable risk factor in LS-associated carcinogenesis. This review synthesizes current findings on taxonomic and functional microbiome alterations in LS carriers, highlighting early dysbiosis characterized by depletion of butyrate-producing taxa and enrichment of virulent species such as pks+ Escherichia coli, Fusobacterium nucleatum, and enterotoxigenic Bacteroides fragilis. These oncogenic microbes promote DNA damage, inflammation and epithelial hyperproliferation in the mismatch repair deficient context, accelerating tumorigenesis. Functional signatures such as colibactin genotoxicity appear more predictive than taxonomic diversity. However, methodological heterogeneity, small cohorts and lack of longitudinal data limit biomarker validation. Finally, we outline future research that should integrate multi-omics, spatial profiling and genotype-stratified designs to identify clinically actionable microbial signatures. Understanding microbiome and host interactions in LS could assist in improved risk stratification beyond current standard surveillance guidelines.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147353990","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":"InSiGHT 2026 meeting: abstracts.","authors":"","doi":"10.1007/s10689-025-00523-2","DOIUrl":"10.1007/s10689-025-00523-2","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 Suppl 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325234","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":"Improving care for Lynch syndrome patients: integrating surveillance into England's national bowel cancer screening programme.","authors":"Kevin J Monahan, Stephanie X Poo, Fiona Lalloo","doi":"10.1007/s10689-026-00539-2","DOIUrl":"10.1007/s10689-026-00539-2","url":null,"abstract":"<p><p>Quality assurance, timeliness and equity of access to colonoscopy for people with Lynch syndrome (LS) in England has historically been highly variable. The LS-Bowel Cancer Screening Programme (LS-BCSP) launched in July 2023, delivers high quality colonoscopy to the average-risk population, from colonoscopists who have undergone high-level accreditation, utilising the existing average-risk BCSP infrastructure. Eligible individuals have a genetic diagnosis of LS. Comprehensive retrospective diagnoses of LS in England (since the 1990s) were ascertained from 17 regional genetics services. The National Disease Registration Service (NDRS) developed a registry of eligible individuals, and a portal for prospectively diagnosed cases. An existing national screening IT framework was adapted to incorporate disease-specific clinical pathway information, linked to existing national guidelines. Nationally standardised training for BCSP teams was delivered to > 2000 staff from 64 national screening centres in 2023. By November 2024, 10,913 eligible individuals were identified, with 150–250 new diagnoses added each month. A historical backlog of > 1000 patients overdue colonoscopy surveillance was cleared by January 2024. Diagnostic outcomes of LS patients from the first two years of LS-BCSP will be available to facilitate evaluation of the successes and failures of the LS_BCSP. This evaluation will include diagnostic outcomes, stratified by demographic and socioeconomic status, genotype, measures of colonoscopy quality and regional variation. This novel programme includes complete ascertainment of the national LS population in England, without requirement for referral. Individuals with LS now have access to high-quality, timely colonoscopy through an accredited programme which is quality-assured along the entire pathway.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12946326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289380","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":"From theory to practice: improving Lynch syndrome recognition through evidence-based education.","authors":"Silvia Sanduleanu-Dascalescu, Gabriel Dimofte, Han-Mo Chiu, Bogdan Cotruta, Stefan Morarasu, Hans Vasen","doi":"10.1007/s10689-026-00534-7","DOIUrl":"10.1007/s10689-026-00534-7","url":null,"abstract":"<p><p>Although genomic medicine has improved understanding of Lynch Syndrome (LS), many challenges remain in translating the knowledge in clinical practice. Between 1 in 279 and 400 persons in general population carry a pathogenic mutation in mismatch repair (MMR) genes linked to LS, but the vast majority remain undiagnosed. The clinical implementation gap arises from an interplay between physician factors, patient factors and logistic factors. In the first place, there is limited awareness and limited compliance among practicing physicians who often don’t recognize LS and don’t follow surveillance recommendations, missing opportunities to prevent cancer in affected persons and family members. One of the central problems lies in the current educational approach, particularly the lack of a curriculum on hereditary cancer syndromes during GI fellowship. Theoretical guidance alone is not actionable—it needs to be backed up by case-based practice with adequate provision both in terms of quantity and of insights. An evidence-based curriculum for achieving mastery standards on LS recognition and management shows early promise in fostering clinical transformation. Using repeat cycles of self-study and case-based practice with real-time feedback, learners can acquire base knowledge and problem-solving clinical decision skills faster and more effectively. This approach leads to a shift in practice. In the context of population screening programs for colorectal cancer (CRC) and gynecological cancers, this strategy can enhance the effectiveness of screening by reducing cancer incidence and mortality. Herein, we propose steps for the integration of LS screening into routine clinical practice, with particular focus on education.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147282972","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":"Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant.","authors":"Kristjan Ari Ragnarsson, Gloria Garcia, Jon Gunnlaugur Jonasson, Gudny Anna Arnadottir, Sigrun Edda Reykdal, Reynir Arngrimsson, Sigurdis Haraldsdottir, Jon Johannes Jonsson","doi":"10.1007/s10689-026-00538-3","DOIUrl":"10.1007/s10689-026-00538-3","url":null,"abstract":"<p><p>BAP1 tumour predisposition syndrome (BAP1-TPDS) is a hereditary cancer syndrome caused by heterozygous pathogenic germline variants in BAP1. BAP1-TPDS is associated with an increased risk for various malignant tumours, the core of which is uveal and cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. In BAP1-TPDS, the majority of disease-causing BAP1 variants are null variants, although missense variants have been reported. We report a patient with BAP1-TPDS caused by the novel germline BAP1 missense variant NM_004656.4:c.382G > A, p.(Gly128Arg). The patient developed BAP1-inactivated melanocytic tumours, clear-cell renal cell carcinoma, and splenic hamartoma. An incidental splenic hamartoma was detected in existing tissue slides from the patient's deceased first-degree relative, who was an obligate carrier for BAP1-TPDS. In both splenic hamartomas, loss of BAP1 nuclear staining was detected in a subset of cells on immunohistochemistry. To our knowledge, this is the first report with immunohistochemical data supporting biallelic loss of BAP1 as a contributing step in the development of a splenic hamartoma in a patient with BAP1-TPDS. It supports expanding the tumour spectrum of BAP1-TPDS to splenic hamartoma and possibly other benign splenic tumours.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"23"},"PeriodicalIF":2.1,"publicationDate":"2026-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12920776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146226213","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":"Misinterpreting the results: patient misconceptions about genetic cancer risk after obstetrical carrier screening.","authors":"Alex Raghunandan, Sonali Iyer, Shayan Dioun, Jessica Scholl, Robin B Kalish, Michelle Primiano, Amanda Laterza Ozarowski, Ravi N Sharaf, Melissa K Frey","doi":"10.1007/s10689-026-00536-5","DOIUrl":"10.1007/s10689-026-00536-5","url":null,"abstract":"<p><p>Obstetric carrier screening (OCS) is recommended for all individuals during pregnancy by leading professional societies. However, patient understanding of the scope and limitations of OCS remains poorly characterized, especially with regards to inclusion of cancer-related genes on OCS panels. This quality improvement initiative evaluated pregnant patients' knowledge of their OCS results. We contacted 100 pregnant patients who had recently completed OCS and participated in a structured telephone interview following physician disclosure of results. When asked about the content of OCS, 52% of patients were unsure or incorrectly believed that cancer-related genes were included on the panel. After clarification of the specific genes and syndromes tested, 73% of patients reported that they would have elected to undergo hereditary cancer screening had it been offered concurrently with OCS. These findings reveal substantial gaps in patient comprehension of OCS and suggest that many pregnant patients incorrectly assume that cancer susceptibility genes are included in their testing. The high level of interest in hereditary cancer screening following clarification underscores pregnancy as a unique window of opportunity to expand access to cancer genetics. Integrating cancer risk assessment into obstetric care may improve uptake of preventive strategies and broaden the impact of genomics on women's health.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"22"},"PeriodicalIF":2.1,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219247","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":"Does bilateral mastectomy affect clinical outcomes in BRCA1/2 mutation carriers with primary breast cancer? A systematic review and meta-analysis.","authors":"Pedro Henrique de Souza Wagner, Gustavo Tadeu Freitas Uchôa Matheus, Hideki Zimermann Kamitani, Pedro Lucas Azevedo de Carvalho, Francisco Cezar Aquino de Moraes","doi":"10.1007/s10689-026-00535-6","DOIUrl":"10.1007/s10689-026-00535-6","url":null,"abstract":"<p><p>BACKGROUND: BRCA1/2-carriers—who account for 5–10% of breast cancer (BC) cases—face markedly elevated lifetime risks of BC. Among those diagnosed with primary breast cancer (PBC), these carriers confront a cumulative contralateral breast cancer (CBC) risk of 40% within 10 years—alongside poorer overall survival (OS) and breast cancer–specific survival (BCSS). Whether contralateral risk-reducing mastectomy (CRRM) can improve OS, BCSS, and reduce CBC risk in this high-risk group remains unresolved. PATIENTS AND METHODS: We conducted a systematic review and meta-analysis of cohort studies (PROSPERO:CRD420251024265). PubMed, Embase, Cochrane Library were searched through June 2025. Studies enrolled BRCA1/2-carriers with PBC, compared CRRM versus Non-CRRM, and reported OS, BCSS, or CBC risk. We pooled hazard ratio (HR) and risk ratio (RR) for these outcomes. Heterogeneity was quantified by I2. RESULTS: This meta‐analysis included nine cohort studies, encompassing BRCA1/2-carriers with PBC. In the OS analysis, including 3138 patients in the CRRM group versus 2,592 in the Non-CRRM group, CRRM presented a substantial survival benefit (HR 0.638; P < 0.001). BCSS (567 CRRM and 623 Non-CRRM patients), likewise demonstrated an advantage for the CRRM group (HR 0.601; P = 0.005). CBC risk, evaluated in 637 CRRM and 976 Non-CRRM patients, was reduced by 91% (RR 0.090; P < 0.001), reflecting an absolute risk reduction of 188 CBC events per 1000. CONCLUSION: CRRM confers substantial oncologic benefits, improving OS and BCSS and reducing CBC risk in BRCA1/2 carriers with PBC, and should be considered for this high-risk population, informing guideline recommendations.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 1","pages":"21"},"PeriodicalIF":2.1,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146200635","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}