Familial Cancer最新文献

{"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":"10.1007/s10689-026-00563-2","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"10.1007/s10689-026-00564-1","url":null,"abstract":"<p><p>BACKGROUND: Women with germline pathogenic variants (GPV) in BRCA1/2, PALB2, or other high penetrance genes may consider risk reducing mastectomy (RRM) with or without reconstruction to reduce their risk of developing breast cancer. Few studies have characterized reconstructive trends in this patient population. METHODS: We conducted a retrospective cohort study of female patients with a confirmed GPV in a high penetrance breast cancer susceptibility gene who underwent RRM between 2003 and 2024. Clinicodemographic and surgical data were extracted from the electronic medical record. The Chi-squared test and Mantel-Haenszel test for trend were used to evaluate factors and temporal trends associated with reconstruction. RESULTS: Of 443 female GPV carriers who underwent RRM, 394 (88.9%) elected to undergo breast reconstruction. Factors significantly associated with reconstruction included younger age (p < 0.001), premenopausal status (p < 0.001), and more recent year of RRM (p = 0.04). In women undergoing reconstruction, the median age was 43 years (IQR 35–52) compared to 55 years (IQR 39–65) in those electing for no reconstruction (p < 0.001). There was a significant trend towards increased use of reconstruction over the study period (85.2% prior to 2012 vs. 97.0% after 2022, p < 0.01). In 375 carriers with reconstructive details available, implant-based reconstruction was the most common (94.1%), although autologous/flap based reconstructive procedures increased over time (2.3% of all reconstructive procedures prior to 2012 vs. 12.6% after 2022, p = 0.003). There was a trend towards decreasing use of tissue expanders over time (86.1% prior to 2012 vs. 26.3% after 2022), whereas direct-to-implant reconstruction (either single-staged or staged following reduction mastopexy) became the dominant reconstructive approach over the study period (11.6% prior to 2012 vs. 61.1% after 2022; p < 0.001). Among 353 patients undergoing implant-based techniques, the use of prepectoral implants increased dramatically over the study period (0% prior to 2012 to 94.0% after 2022, p < 0.001). CONCLUSIONS: In BRCA1/2, PALB2, and other high penetrance GPV carriers undergoing RRM, the use of reconstruction increased from 85% prior to 2012 to 97% of all carriers in 2022. Implant-based techniques were the most commonly used, although autologous/flap-based reconstruction techniques gradual increased over time. Further research examining patient reported outcomes, recovery time, and the financial impact of different reconstructive approaches are warranted.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"<p><p>Evidence of benefit for pancreatic ductal adenocarcinoma (PDAC) surveillance is accumulating, including earlier staging, extended survival, and improved psychological function. This study aimed to assess the 5-year psychological impact of high-risk PDAC surveillance, performed at St Vincent’s Hospital, Sydney, Australia. Participants were offered annual endoscopic ultrasound (EUS) or magnetic resonance imaging (MRI), with frequency increasing if clinically indicated. The impact of event scale (IES), comprising intrusion and avoidance subscales, and the psychological consequences questionnaire (PCQ), which assesses emotional, physical and social domains, were administered at baseline, 1-month, 1-year and 5-years post-baseline EUS. Generalized linear mixed-effects models were used to assess for differences in reported outcomes. Of the 143 participants under surveillance, 108 underwent annual investigations, and 35 had one or more episode(s) of intensified surveillance. Overall, screening compliance was high, though understandably, increased deferrals occurred during COVID-19 pandemic restrictions. Two participants were diagnosed with pancreatic neoplasms and half had pre-malignant pancreatic lesions that remained stable (n = 45) or showed progression (n = 28). There was a significant reduction in IES intrusion and an increase in positive PCQ emotional, physical and total scores at 5-years. Negative PCQ scores remained stable compared to baseline. There was no difference in IES, negative PCQ or positive PCQ scores based on EUS/MRI findings. Individuals undergoing intensified surveillance reported significantly lower positive PCQ physical and total scores, but there was no difference in negative PCQ or IES scores. These data provide reassurance regarding the acceptability and psychological safety of PDAC surveillance, despite frequent abnormal findings and intensified investigation.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"10.1007/s10689-026-00560-5","url":null,"abstract":"<p><p>Lynch syndrome predisposes to multiple cancer types, including urological malignancies. However, no evidence-based recommendations for surveillance of urological malignancies currently exist. In this systematic review, we aim to describe the current evidence regarding surveillance for these cancers. A systematic literature search was conducted using MEDLINE, searching for urological malignancies, Lynch syndrome, and surveillance including the results of the surveillance methods. Sensitivity and specificity were calculated, when possible, preferably for pooled data from each surveillance method. The risk of bias was assessed using the Newcastle–Ottawa Scale. After full text-screening, nine studies published in 2008–2025 met the inclusion criteria, including two on prostate cancer and seven on urothelial cancer. Prostate cancer-antigen (PSA) surveillance led to 38 prostate cancer diagnoses in 865 individuals with Lynch syndrome, with 71% being clinically significant prostate cancers. In 1564 individuals, 11 urothelial carcinomas were diagnosed by different surveillance methods and 15 diagnoses were missed. Sensitivity of urinalysis, urine cytology, urine MSI, and CT and cystoscopy was 11%, 30%, 100%, and 100% respectively. Specificity was 90%, 97%, 99%, and 100% respectively for these methods. Further data is needed but for prostate cancer surveillance PSA shows promise, while for MSH2 carriers at least, urine microsatellite instability analysis shows promise as a urothelial cancer surveillance test.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"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":"10.1007/s10689-026-00558-z","url":null,"abstract":"<p><p>The BAP1 gene encodes a tumor suppressor protein implicated in BAP1 tumor predisposition syndrome (BAP1-TPDS), a hereditary condition associated with an increased risk of uveal and skin melanoma, mesothelioma, and renal cancer. In this case report, we describe a male patient diagnosed with mesothelioma carrying a germline BAP1 variant. The patient exhibited severe nail abnormalities affecting all ten fingernails and several toenails. To our knowledge, the association between onychopapilloma and pathogenic germline BAP1 variants has only been reported once in the literature. The patient had experienced nail abnormalities since adolescence. Based on these findings, we propose that polydactylous onychopapilloma may serve as a clinical marker of BAP1-TPDS in otherwise asymptomatic individuals, and could potentially aid in early identification of at-risk carriers.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"10.1007/s10689-026-00553-4","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"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":"10.1007/s10689-026-00556-1","url":null,"abstract":"<p><p>Li–Fraumeni syndrome (LFS) is a hereditary syndrome caused by TP53 variants, conferring a high risk of early-onset malignancies, particularly breast cancer. TP53 variants also increase susceptibility to radiation-induced tumors, complicating therapeutic strategies. This report illustrates a representative case and reviews current recommendations and related challenges. A literature review was conducted on patients with LFS who developed secondary malignancies within previously irradiated fields. We describe a 31-year-old woman with prior breast augmentation and left-sided breast cancer treated with chemotherapy, lumpectomy, axillary dissection, and adjuvant radiotherapy. A TP53 variant was identified post-treatment. 22 months after completing radiotherapy, imaging revealed two suspicious nodules adjacent to the left implant. Despite negative biopsies, mastectomy and implant removal uncovered an undifferentiated pleomorphic sarcoma within the capsule. Subsequently, extensive resection with a latissimus dorsi flap was performed. Histopathological analysis revealed residual chondroblastic osteosarcoma infiltrating muscle tissue. The literature indicates increased radiosensitivity and a higher risk of secondary malignancies in patients with TP53 pathogenic variants. Current guidelines favor mastectomy over breast-conserving surgery and recommend avoiding radiotherapy when feasible. Early genetic testing and multidisciplinary planning are essential to optimize oncologic safety and functional outcomes.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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":"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":"10.1007/s10689-026-00559-y","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"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}

{"title":"Frequency of bilateral prophylactic and contra-lateral risk-reducing mastectomies in women with germline PALB2 variants.","authors":"Giovanni Corso, Carlo La Vecchia, Andrea Polizzi, Francesca Magnoni, Giuliarianna Abruzzese, Susanna Di Silvestre, Filippo Pesapane, Luca Nicosia, Giorgio Bogani, Mattia Intra, Paolo Veronesi, Viviana Galimberti","doi":"10.1007/s10689-026-00554-3","DOIUrl":"10.1007/s10689-026-00554-3","url":null,"abstract":"<p><p>Germline PALB2 variants confer a moderate/high-risk for breast cancer (BC). Recent reports described an increasing attention in suggesting bilateral prophylactic mastectomy (BPM), for healthy carriers, or contraleral risk-reducing mastectomy (CRRM) and/or therapeutic mastectomy for women with BC. In this study, we aimed to calculate systematically the overall number of these procedures reported in literature. We revised all articles using systematic research through the PUBMED database. Overall numbers, frequencies, geographic distribution, family history, and post-operative histopathological analysis of BPM or CRRM were the main outcomes considered. Among 51 studies, 10 articles fulfilled our aim. All BPM or CRRM were performed in North America. One-hundred and forty-two (6.6%) were PALB2 positive, from 2,135 tested women; a total of 84 women were treated, 35 (41.7%) were healthy carriers and 49 (58.3%) received a CRRM for a previous or contextual diagnosis of BC, respectively. A positive family history was reported in 80% of these groups, and a post-operative tumor was identified in 2.6% of breast specimens. In conclusion, very few studies are reported, only in North America, but about of 2/3 (~ 60%) of the screened women received BPM or CRRM, with a high familial history for BC and a low detection rate of tumor in breast post-operative specimens.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689133","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":"Retraction Note: Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis.","authors":"Dejana Braithwaite, Jon Emery, Fiona Walter, A Toby Prevost, Stephen Sutton","doi":"10.1007/s10689-026-00551-6","DOIUrl":"10.1007/s10689-026-00551-6","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147671787","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}