Hereditary Cancer in Clinical Practice最新文献

{"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":"10.1186/s13053-026-00341-2","url":null,"abstract":"<p><p>BACKGROUND: Around 10% of children with cancer carry a germline pathogenic or likely pathogenic variant (P/LPV) in one of the cancer predisposition genes. The objective of this study was to evaluate the frequency of genetic testing for hereditary cancer predisposition syndromes (HCPSs) among adults treated for childhood cancer in Slovenia and to characterize the P/LPVs identified in those who opted for genetic testing. We also aimed to analyse how a positive genetic test influences cascade testing in blood relatives. METHODS: We included patients born between 1970 and 2000 who were diagnosed and treated for cancer between ages 0 − 18 into this retrospective, descriptive, cross-sectional study. Data were collected from the Cancer Registry of the Republic of Slovenia, Long-term Follow-Up Clinic (LTFUC) and the Department of Clinical Cancer Genetics (DCCG) databases. The proportion of tested individuals was calculated with a 95% confidence interval (CI) using the Wald’s method. RESULTS: Of 1,475patients diagnosed and treated for cancer in childhood, 59 (4.0%; 95% CI: 3.0–5.0%) underwent genetic testing, with 35.6% (21/59) testing positive. The P/LPV were most frequently found in RB1, NF1, RET and BRCA2 genes. In 61.9% (13/21) of positive cases, an identified cancer predisposition syndrome was linked to the childhood cancer; in 95.2% (20/21) it conferred an increased adult cancer risk. Among six patients with P/LPV and second primary cancer (SPC), two had SPC with possible association with the HCPS. Cascade genetic testing was performed in 38.1% (8/21) of positive families and was documented for 35 relatives of 8 carriers of P/LPV. Overall, 60% (21/35) of relatives were positive at genetic testing and 47.6% (10/21) of developed cancer. In 90% (9/10) of relatives the cancer could be linked to the HCPS. CONCLUSIONS: Only 4% of childhood cancer survivors underwent genetic testing for HCPS. Since hereditary cancer predisposition identified in childhood may also increase cancer risk in adulthood, universal cancer genetic counselling and testing should be considered in childhood to timely enable preventive options for early cancer detection and risk reduction procedures in carriers of P/LPV. In parallel, cascade genetic testing among blood relatives may also offer preventive opportunities to those at risk. </p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13202886/pdf/","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":"OA","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":"<p><p>BACKGROUND: Individuals meeting clinical diagnostic criteria for Gorlin syndrome typically harbor germline pathogenic variants in PTCH1 or SUFU. The molecular basis of a proportion of cases remains unresolved, with mosaicism a possible explanation for some of these unexplained cases. CASE PRESENTATIONS: We describe four probands meeting clinical diagnostic criteria for Gorlin syndrome with confirmed mosaic pathogenic variants. The first proband, a 38-year-old male with metastatic basal cell carcinoma and over 30 prior lesions, had no reportable variants identified on peripheral blood DNA. Somatic analysis of a metastatic lymph node identified a pathogenic PTCH1 variant, subsequently detected at low levels (< 3% variant allele frequency (VAF)) in multiple non-tumor tissues, consistent with mosaicism. The second proband, a 39-year-old female with a history of > 250 basal cell carcinomas, had previously undergone PTCH1 and SUFU testing on peripheral blood DNA, with no reportable variants identified. Somatic testing arranged on three basal cell carcinomas identified a common PTCH1 frameshift variant, which on manual re-analysis of peripheral blood DNA was present at < < 1% VAF. Two additional probands, a 32-year-old female and a 30-year-old male, had a PTCH1 variant reported at 11% and 15% VAF, respectively, in peripheral blood DNA. The clinical features of these individuals are described and compared with 11 additional mosaic probands with confirmed PTCH1 variants and/or clinically diagnosed Gorlin syndrome identified from the literature. CONCLUSIONS: The presented case series and accompanying literature review provide the largest summary to date of the spectrum of clinical features observed due to PTCH1 mosaicism. Importantly, it highlights the possibility that low-level PTCH1 mosaicism may still result in a classic Gorlin syndrome phenotype. This review reinforces the importance of additional testing of multiple tissue types to achieve a molecular diagnosis, given the implications for familial risk assessment, reproductive planning, and to support access to targeted systemic therapies. </p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"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":"<p><p>BACKGROUND: Ovarian cancer is the deadliest gynecologic malignancy largely due to late diagnosis. The present study aims to provide a comprehensive assessment of clinically relevant and potentially actionable germline and somatic pathways in ovarian cancer through parallel analysis of inherited susceptibility and tumor-specific genomic alterations, within the constraints of targeted NGS panel design. METHODS: We analyzed 33 Bulgarian women with histologically confirmed ovarian cancer. Next‑generation sequencing (NGS) was performed on germline DNA from peripheral blood and tumor DNA from FFPE tissue. Variants were described per HGVS, classified by ACMG/AMP (germline) and AMP/ASCO/CAP (somatic), and reviewed in ClinVar/COSMIC. Descriptive statistics were generated in Python. RESULTS: All pathogenic and likely pathogenic germline and somatic variants are summarized in comprehensive tables. Somatic pathogenic TP53 variants were identified in 27/33 patients (81.8%). Germline pathogenic/likely pathogenic variants were detected in 9/33 (27.3%), most commonly in BRCA1 (3/33; 9.1%), with single cases in ATM, RAD51D, NBN, FANCL and WRN. One patient fulfilled criteria for multi‑locus inherited neoplasia alleles syndrome (MINAS). High‑grade serous ovarian histological subtype predominated (75.8%). CONCLUSIONS: Dual-sample NGS enables an integrated evaluation of hereditary risk and tumor-associated actionable alterations in ovarian cancer. While comprehensive interrogation of all therapeutic pathways is limited by panel scope, this approach supports clinically meaningful stratification and highlights areas requiring expanded molecular testing. </p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"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":2.8,"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":"<p><p>OBJECTIVES: Determine the proportion of patients with Lynch syndrome who received guideline-concordant care according to NCCN guidelines during the study period (2015–2018). METHODS: A retrospective cohort study was performed at Kaiser Permanente Northern California including patients with germline pathogenic variants in MLH1, MSH2/EPCAM, MSH6 or PMS2 tested between 01/01/2015 and 12/31/2018. Clinical and demographic characteristics were abstracted from chart review. Screenings were assessed for gynecologic, gastrointestinal (GI), urinary, skin, and neurologic cancer sites. Concordance was assessed against NCCN guidelines (versions 1.2015 through 1.2018) matched to the year of each patient encounter. The primary outcome was receipt of guideline-concordant care. Secondary outcomes included rates of under- and over-utilization and clinical/demographic factors associated with care utilization. RESULTS: We identified 234 patients: 46 with pathogenic MLH1 variants, 64 with MSH6, 83 with PMS2 and 41 with MSH2/EPCAM variants. Median age was 52 years (IQR: 39–62), most were white (60%) and 29% were tested based on a personal cancer history. Half (48%) of patients received screening as recommended by NCCN guidelines, with highest concordance for GI cancer screening. A quarter of patients received less screening than recommended by guidelines. Patients with MLH1 variants had higher rates of transvaginal ultrasound (34.2%) and urologic cancer screening (28.3%) compared to those with other variants. CONCLUSIONS: Only 48% of patients in this integrated healthcare system received guideline-concordant Lynch syndrome surveillance. Our findings highlight variation in screening practices across pathogenic variant types and suggest opportunities for improving adherence to recommended screenings within healthcare systems. </p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"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":"<p><p>BACKGROUND: Breast cancer is the most common cancer among women worldwide. While lifestyle factors contribute to rising incidence, 5–14% of cases result from pathogenic variants in core susceptibility genes such as BRCA1, which also increases ovarian cancer risk and, in men, prostate cancer risk. BRCA1 variants are typically autosomal dominant, making family history a key criterion for genetic testing under guidelines like HBOC or NCCN. Although usually inherited, de novo BRCA1 pathogenic variants occur rarely; only twelve cases have been reported. We present a young woman with breast cancer without a significant family history, and a pathogenic de novo BRCA1 variant. CASE PRESENTATION: We report a 37-year-old woman with HER2-positive, ER/PR-positive invasive breast cancer without relevant family history. After imaging-confirmed T1cN0M0 disease, she received neoadjuvant Her2-targeted chemotherapy, breast-conserving surgery, postneoadjuvant trastuzumab emtansine, radiotherapy, and ongoing endocrine therapy. Genetic testing by Next Generation Sequencing revealed a BRCA1 frameshift variant (NM_007294.4:c.1335_1336del, p.(Arg446Serfs*9)) which was classified as pathogenic per ENIGMA/ACMG guidelines. Absent from population databases and previously reported in cancer cases, it disrupts protein function. Cascade testing showed neither parent carried the variant; microsatellite analysis confirmed parentage, indicating a de novo pathogenic variant. CONCLUSION: A rare de novo BRCA1 variant was identified in a young breast cancer patient. Such variants are likely underdiagnosed due to historical testing limitations and reliance on family history. This case highlights the importance of genetic testing and inclusion in hereditary cancer prevention programs, even without a family history. </p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"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}

{"title":"Two novel multiple endocrine neoplasia type 1 variants caused thymic neuroendocrine tumor: a case report.","authors":"Zi Dai, Jing Zhang, Jing Wang, Leshi Ma, Pei Liao, Xiaojie Deng, Zhenxiang Li, Zhijie Luo, Jieshan Guan","doi":"10.1186/s13053-026-00331-4","DOIUrl":"10.1186/s13053-026-00331-4","url":null,"abstract":"<p><p>Multiple endocrine neoplasia type 1 (MEN1), or Wermer’s syndrome, is a rare autosomal dominant genetic disorder caused by MEN1 mutations, which rarely result in thymic tumors. However, effective therapies or standard treatments are still lacking for patients with MEN1-associated tumors. Some patients with MEN1-associated tumors, such as parathyroid carcinoma and insulinoma, have both germline and somatic MEN1 mutations, consistent with Knudson’s two-hit hypothesis. However, this hypothesis has seldom been reported in connection with MEN1-associated thymic tumors. Herein, we observed a family carrying the MEN1 p.L105Sfs*14 mutation in which two males were diagnosed with MEN1-associated thymic neuroendocrine tumors (NETs). The proband was diagnosed with a left adrenal cortical adenoma and underwent surgery at 49 years of age. After two years, he underwent another surgery for thymic NET. The proband’s son underwent robot-assisted resection at the age of 29 years. Whole exome sequencing (WES) and 425 cancer-related gene panel sequencing revealed that they both had the same germline MEN1 p.L105Sfs*14 mutation and that the son carried the somatic MEN1 p.Q96* mutation. We present a case of two novel MEN1 variants (p.L105Sfs*14 and p.Q96*) in thymic NET. These mutations have not been previously reported in patients with MEN1-associated thymic NET; they resulted in the production of a truncated menin protein. The two-hit of MEN1 germline and somatic mutations occurred in the thymic tumor of the proband’s son. This may partially be the reason for early tumor onset and is consistent with the “two-hit hypothesis”.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147286331","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":"Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.","authors":"Joanna Robaczyńska, Milena Kiljańczyk, Adam Stachowski, Krzysztof Lubiński, Angelos Dodopoulos, Rayane Benali, Adam Kiljańczyk, Rafał Becht, Cezary Cybulski, Jacek Gronwald, Jan Lubiński","doi":"10.1186/s13053-025-00328-5","DOIUrl":"10.1186/s13053-025-00328-5","url":null,"abstract":"<p><strong>Background: </strong>Cancer family syndromes can predispose to malignancies of different sites, including brain and spinal tumours. Germline mutations associated with a high risk of cancer can also be found in patients with metastatic tumours of the brain. We present a few such cases, underscoring the importance of DNA germline testing in all primary and metastatic brain tumours.</p><p><strong>Case presentations: </strong>We report four cases illustrating the role of DNA testing in intervention decisions in families of patients with both primary and secondary brain tumours. In this article, we included a case of Li-Fraumeni, Lynch, and von Hippel-Lindau syndromes, as well as a metastatic widespread example of BRCA1-related ovarian cancer.</p><p><strong>Conclusions: </strong>In all primary and metastatic brain tumours, genetic testing for germline mutations of high-risk cancers should be considered.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"24 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12930974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147277829","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":"Decisional conflict in women with a BRCA1 or BRCA2 pathogenic variant who have not elected for risk-reducing salpingo-oophorectomy.","authors":"Kelly A Metcalfe, Anita Y Kinney, Steven A Narod, Aletta Poll, Susan Armel, Lucia Lombardi, Farideh Tavangar, Tuya Pal","doi":"10.1186/s13053-025-00329-4","DOIUrl":"10.1186/s13053-025-00329-4","url":null,"abstract":"<p><strong>Objective: </strong>To identify predictors of decisional conflict among women with a BRCA pathogenic variant (PV) who were eligible for risk reducing salpingo-oophorectomy (RRSO) who had not made a decision to have surgery at least one year after receiving genetic test results.</p><p><strong>Methods: </strong>Women with a BRCA1 or BRCA2 PV between the ages of 35 and 70 years old, who had not elected for RRSO at least 12 months after receipt of genetic test results, were administered self-report questionnaires investigating demographic variables, decisional conflict (Decisional Conflict Scale), cancer-related distress (Impact of Event Scale) and cancer risk perception. Decisional conflict scores were generated and a multivariable linear regression was conducted to identify variables associated with decisional conflict.</p><p><strong>Results: </strong>A sample of 107 women completed questionnaires. Overall, 44 participants (41%) had a high decisional conflict score (greater than 37.5) related to the RRSO decision. Higher education (β = 11.40, 95% C.I: 0.59, 22.20; p = 0.039), non-white race (β = 11.12, 95% C.I: 0.66, 21.57; p = 0.037), and having children (β = 22.89, 95% C.I: 10.07, 35.71; p < 0.001) were significantly associated with higher decisional conflict. Lower decisional conflict was significantly associated with genetic testing more than 3 years prior (β = -13.14, 95% C.I: -23.27, -2.99; p = 0.012).</p><p><strong>Conclusions: </strong>Many women with a BRCA PV who have not elected for RRSO are experiencing high levels of decisional conflict related to the decision regarding RRSO. Interventions that target decisional conflict are needed to increase the uptake of RRSO which will result in a reduction of the risk of ovarian cancer in women with BRCA1 or BRCA2 PV.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":" ","pages":"2"},"PeriodicalIF":2.4,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12895950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994204","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}