Hereditary Cancer in Clinical Practice最新文献

{"title":"Breast cancer specialists' experiences and attitudes towards mainstream genetic testing for patients with breast cancer.","authors":"Kirsten Allan, Linda Cicciarelli, Catherine Beard, Geoffrey J Lindeman, G Bruce Mann, Paul A James, Laura E Forrest","doi":"10.1186/s13053-026-00340-3","DOIUrl":"https://doi.org/10.1186/s13053-026-00340-3","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147789619","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":"Monitoring and treatment patterns of von Hippel-Lindau disease-associated central nervous system hemangioblastomas.","authors":"Eric Jonasch, Yan Song, Jonathan Freimark, Manasi Mohan, James Signorovitch, Murali Sundaram","doi":"10.1186/s13053-026-00337-y","DOIUrl":"https://doi.org/10.1186/s13053-026-00337-y","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147730791","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":"Impact of germline MMR gene variants on immune checkpoint inhibitors response in patients with MSI-H/dMMR digestive cancers: a retrospective cohort analysis.","authors":"Antoine Dardenne, Camille Loisel, Anna Pellat, Alexandre Perrier, Julie Metras, Thomas Samaille, Yann Parc, Julie Leclerc, Romain Cohen, Thierry André","doi":"10.1186/s13053-026-00339-w","DOIUrl":"https://doi.org/10.1186/s13053-026-00339-w","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147718974","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":"Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes.","authors":"Anja Urbas, Polona Ušaj, Boštjan Šeruga, Mateja Krajc, Simona Hotujec, Vida Stegel, Lorna Zadravec Zaletel","doi":"10.1186/s13053-026-00341-2","DOIUrl":"https://doi.org/10.1186/s13053-026-00341-2","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147693884","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":"Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.","authors":"Tanya M Dwarte, Rozanna Alli, Shweta Srinivasa, Fallon Noon, Sumudu Perera Kimmantudawage, Lisa Gordon, Victoria Beshay, Anthony M Joshua, Raquel Ruiz Araujo, Chris Jalilian, David M Thomas, Miriam J Smith, Ingrid Winship, Mandy L Ballinger, Minmin Li, Katherine M Tucker, Eliza K Courtney","doi":"10.1186/s13053-026-00332-3","DOIUrl":"10.1186/s13053-026-00332-3","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13141527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147522738","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":"Genomic profiling in Bulgarian women with ovarian cancer: a dual-sample NGS approach.","authors":"Zornitsa Kamburova, Savelina Popovska, Chavdar Tsvetkov","doi":"10.1186/s13053-026-00336-z","DOIUrl":"10.1186/s13053-026-00336-z","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13137463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147516985","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":"A retrospective analysis of risk-reducing salpingo-oophorectomy performed in women diagnosed with hereditary breast and ovarian cancer at our institution.","authors":"Yusaku Shimizu, Miho Kitai, Masashi Akada, Michihide Maeda, Eri Yamabe, Reisa Kakubari, Tsuyoshi Hisa, Shoji Kamiura","doi":"10.1186/s13053-026-00335-0","DOIUrl":"10.1186/s13053-026-00335-0","url":null,"abstract":"<p><strong>Background: </strong>Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been established, risk-reducing salpingo-oophorectomy (RRSO) is recommended for patients with HBOC to prevent disease onset. We evaluated the clinical characteristics of patients with HBOC and the surgical outcomes of RRSO performed at our institution.</p><p><strong>Methods: </strong>We retrospectively reviewed women diagnosed with HBOC at our institution between 2018 and 2024. For analyses of surgical outcomes, male patients, patients with prior bilateral adnexectomy, and patients diagnosed with HBOC who did not undergo RRSO were excluded. Clinical data including patient characteristics, surgical procedures, genetic testing, and pathological findings were assessed.</p><p><strong>Results: </strong>A total of 283 women were diagnosed with HBOC, and 43 (15.1%) underwent testing based on the results of affected relatives. After excluding 39 patients with prior bilateral adnexectomy, and 105 who did not undergo RRSO, 139 patients were included in the surgical analysis. The uptake rate of RRSO among female patients with HBOC was 57%. The median age at surgery was 50 years (range, 35-75). Pathogenic BRCA1 variants were identified in 48 patients (34.5%), BRCA2 variants in 90 (64.7%), and both BRCA1 and BRCA2 variants in 1 (0.7%). A history of malignancy was observed in 121 patients (breast cancer, n = 121; pancreatic cancer, n = 1; ovarian cancer, n = 1; others, n = 3). Laparoscopic RRSO was performed in 138 cases, with one additional hysterectomy performed laparoscopically and one via laparotomy. No perioperative complications were observed. All 6 cases before April 2020 were performed outside insurance coverage; after insurance coverage was initiated in April 2020, 16 were non-covered and 117 were covered by insurance. Pathological examination revealed occult high-grade serous carcinoma in 4 patients (2.9%) and serous tubal intraepithelial carcinoma in 5 patients (3.6%). To date, no cases of primary peritoneal carcinoma following RRSO have been identified.</p><p><strong>Conclusions: </strong>RRSO was performed safely at our institution, with the detection rate of intraepithelial and invasive carcinoma comparable to previous reports. Although no cases of primary peritoneal carcinoma have been observed postoperatively to date, the residual risk remains, indicating the need for continued long-term surveillance.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13130701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494304","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":"Utilization of care and alignment of screening with NCCN guidelines for patients with Lynch syndrome: a retrospective cohort study.","authors":"Christina Lowry, Cecile Laurent, Ameek K Bindra, C Bethan Powell, Christine Garcia","doi":"10.1186/s13053-026-00334-1","DOIUrl":"10.1186/s13053-026-00334-1","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13122861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147488614","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: a rare BRCA1 de novo variant in a female with breast cancer.","authors":"Carlotta Dencker, Vincent Strehlow, Bahriye Aktas, Johannes Lemke, Julia Hentschel","doi":"10.1186/s13053-026-00333-2","DOIUrl":"10.1186/s13053-026-00333-2","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147437856","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":"Meeting abstracts from the Annual Conference \"Clinical Genetics of Cancer 2024\".","authors":"","doi":"10.1186/s13053-026-00330-5","DOIUrl":"10.1186/s13053-026-00330-5","url":null,"abstract":"","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"24 Suppl 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12961767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147356379","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}