Familial Cancer最新文献

{"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":"https://doi.org/10.1007/s10689-026-00554-3","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"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}

{"title":"Factors influencing public willingness to participate in population-based hereditary cancer genetic testing: a qualitative study of public preferences.","authors":"Diego R Sanchez-Vazquez, Jonathan Avery, Whitney Qualls, Colene Bentley, Helen McTaggart-Cowan, Julianne McLeod, Lesa Dawson, Stuart Peacock","doi":"10.1007/s10689-026-00555-2","DOIUrl":"https://doi.org/10.1007/s10689-026-00555-2","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147644775","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":"A new c.681dup RUNX1 variant in familial leukemia.","authors":"Maria Crocioni, Carlotta Nardelli, Anair Graciela Lema Fernandez, Valentina Bardelli, Valentina Pierini, Caterina Matteucci, Eloise Beggiato, Matteo Olivi, Valentina Vigliani, Alessandra Pelle, Giuseppe Lanzarone, Cristina Mecucci","doi":"10.1007/s10689-026-00550-7","DOIUrl":"10.1007/s10689-026-00550-7","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147622212","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":"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/s10689-026-00546-3","DOIUrl":"10.1007/s10689-026-00546-3","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13038461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147580991","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":"Re-evaluating hereditary breast and ovarian cancer risk: clinical impact of updated multigene panel sequencing and genetic counseling.","authors":"Julie Isabelle Plougmann Gislinge, Anna Byrjalsen, Klara Vinsand Naver, Helle Vibeke Clausen, Pernille Ravn, Kresten Rubeck Petersen, Karin A W Wadt","doi":"10.1007/s10689-026-00547-2","DOIUrl":"10.1007/s10689-026-00547-2","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13031182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147527854","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":"Cascade testing as the missing link in cancer prevention among Lynch syndrome families.","authors":"Lea Godino, Giulia Erini, Giovanni Innella, Sara Miccoli, Simona Ferrari, Pamela Magini, Luca Caramanna, Martina Preite, Veronica Simoni, Daniela Turchetti","doi":"10.1007/s10689-026-00549-0","DOIUrl":"https://doi.org/10.1007/s10689-026-00549-0","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147520390","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":"Prevention strategies for hereditary gynaecological cancer in Lynch syndrome.","authors":"Kevin J J Kwinten, Jean-Ellen Johnson, Anne M van Altena, Nicoline Hoogerbrugge, Emma J Davidson, Joanne A de Hullu","doi":"10.1007/s10689-026-00548-1","DOIUrl":"10.1007/s10689-026-00548-1","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13013114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147510949","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":"Endoscopic prediction model for detecting advanced rectal polyps after ileorectal anastomosis in familial adenomatous polyposis: a dual-center retrospective study.","authors":"Zhilin Liu, Xingjie Gao, Shuling Chen, Linfu Zheng, Binbin Xu, Gaozhen Deng, Wen Wang, Kun Lin, Chushu Li, Zhou Ye, Dazhou Li","doi":"10.1007/s10689-026-00545-4","DOIUrl":"https://doi.org/10.1007/s10689-026-00545-4","url":null,"abstract":"","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147510944","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":"Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.","authors":"Y Mestre Terkemani, L Rosado Jiménez, A García Aliaga, M D Sarabia Meseguer, M Marín Vera, J A Macías Cerrolaza, P Sánchez Henarejos, M R García Hernández, M Zafra Poves, B Alvarez Abril, E García Torralba, C B López Sánchez, M P Moya Martínez, M A Moreno Locubiche, D A Sánchez Martínez, T A Quirós Figelló, A M Cerón Moreno, M Expósito García, D Antón Martínez, E Martínez Barba, F Ayala de la Peña, J L Alonso Romero, J A Noguera Velasco, F Ruiz Espejo","doi":"10.1007/s10689-026-00544-5","DOIUrl":"https://doi.org/10.1007/s10689-026-00544-5","url":null,"abstract":"<p><p>Traditionally, hereditary breast and ovarian cancer syndrome (HBOC) has been associated with germline pathogenic or likely pathogenic variants (PV/LPV) in BRCA1 and BRCA2. However, growing evidence indicates that this condition is genetically heterogeneous, and that PV/LPV in additional cancer predisposition genes also contribute significantly to disease susceptibility. In this study, 414 HBOC index cases (ICs) from the Region of Murcia, who fulfilled the 2019 Spanish Society of Medical Oncology (SEOM) criteria, were analyzed using next-generation sequencing (NGS). A 50-gene panel was applied, containing a total of 20 clinically actionable genes recommended by the National Comprehensive Cancer Network (NCCN) for HBOC. The study achieved a diagnostic yield of 15% based solely on the 20 clinically actionable genes included in the panel, with the highest detection rate observed among patients with co-occurring breast and high-grade serous epithelial ovarian cancer. Notably, applying only criteria involving a personal history of breast cancer from the 2019 SEOM guidelines limited the identification of HBOC patients carrying PV/LPV. It was also observed that BRCA genes contributed more to HBOC than non-BRCA genes (60% and 40%, respectively). Finally, re-evaluation of variants of uncertain significance (VUS) led to a substantial reduction in their number, with 25.38% of the initially identified VUS reclassified as benign or likely benign and 6 of the 97 remaining variants (6.2%) prioritized after applying a prioritization algorithm. This study confirms the importance of limiting HBOC genetic testing to clinically actionable genes in routine clinical practice. The re-evaluation and the prioritization of VUS are also essential, since they allow clinical laboratories to manage their resources more efficiently.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 2","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503525","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}