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33 citation(s) found for "Furuya, KN".

Portal Vein Thrombosis in Pediatric Liver Transplantation With Technical Variant Grafts: An International Multicenter Analysis of Risk and Prognostic Factors
Raptis, Dimitri A., Gunasekaran, Vasanthakumar , Rammohan, Ashwin, Sakamoto, Seisuke, Uchida, Hajime, Beekum, Cornelius J. van, Krendl, F. J., Chen, Itsuko Chih-Yi, Domenick, Bryanna , Kow, Alfred, Soejima, Yuji, Furuya, Katryn N. , Mazariegos, George V., Dunn, Stephen, Olthoff, Kim, Rand, Elizabeth B. , Chen, C L, Balci, Deniz, Nadalin, Silvio, Schneeberger, Stefan, Sudan, Debra L., Schmelzle, Moritz, Herden, Uta , Fischer, L, Sayed, Blayne A., Ng, Vicky L, Kasahara, Mureo, Rela, Mohamed, Broering, Dieter C., Xia, Qiang, Clavien, P A, Li, Zhihao, Sudan, Debra L. , Li, Zhihao , Sayed, Blayne A , Sudan, Debra L , Li, Zhihao , Wang, Kaihang , Madadi‐Sanjani, Omid , Y, Liu , Raptis, Dimitri , Rammohan, Ashwin , Sakamoto, Seisuko , Uchida, Hajime , Kaliciński, Piotr , Goldaracena, Nicolás , Beekum, Cornelius J. van , Krendl, Felix Julius , Chen, Itsuko Chih-Yi, Kow, Alfred Wei Chieh , Soejima, Yuji , Mazariegos, George , Mali, Vidyadhar Padmakar , Leipnitz, Ian , Balci, Deniz , Kirimker, Elvan Onur , Nadalin, Silvio , Schneeberger, Stefan , Schmelzle, Moritz , Sayed, Blayne A. , Kowalewski, Grzegorz , Kasahara, Mureo , Rela, Mohamed , Bröering, Dieter C. , Xia, Qiang

Transplantation | June 9, 2026 | Volume: 110 | Issue: 8 | Pages: e1695-e1704

10.1097/tp.0000000000005777 | PMID 42263010 Get It

Background. The adoption of technical variant grafts has expanded the donor pool for pediatric liver transplantation, but it also poses a risk of portal vein thrombosis (PVT). This study evaluated risk and prognostic factors of PVT in children undergoing liver transplantation with technical variant grafts. Methods. A total of 3137 pediatric patients from 19 centers were included: 470 received split/reduced deceased donor grafts and 2667 received living donor grafts. Multivariable logistic regression was used to identify risk factors, whereas time-dependent Cox models were used to assess the impact on survival. Results. PVT occurred in 102 patients (3.3%) and was associated with increased mortality (adjusted hazard ratio, 2.86; 95% confidence interval [CI], 1.13-7.25; P = 0.027) and graft loss (adjusted hazard ratio, 9.97; 95% CI, 4.90-20.3; P < 0.001). Risk factors included younger age, lower weight, higher Pediatric End-Stage Liver Disease score, longer cold ischemia and operation times, higher graft-to-recipient weight ratio, increased red blood cell transfusions, and biliary atresia. After adjusting for center, lower weight (odds ratio, 0.84 per kg; 95% CI, 0.71-1.00; P = 0.047) and biliary atresia (odds ratio, 2.34; 95% CI, 1.10-5.00; P = 0.027) remained predictors. Five-year patient (88.4% versus 93.1%) and graft survival (82.7% versus 96.3%) were significantly inferior in patients with PVT. Conclusions. Low-weight children with biliary atresia constituted a high-risk group, highlighting the necessity for early detection and management.
Evaluating data extraction error by a large language model from randomised controlled trials: a large-scale empirical study
Fan, Shiqi , Chen, Ming, Doi, Suhail A , Ye, Zhangnan, Peng, Zhen, Tian, Yuan , Zhang, Chengzhi, Furuya-Kanamori, Luis, Lin, Lifeng, Mayo-Wilson, Evan, Murad, M Hassan, Meng, Xiuhong, Xu, Chang, Lin, Lifeng , Fan, Shiqi , Lin, Lifeng , Murad, M Hassan , Xu, Chang , Peng, Zhen, Furuya‐Kanamori, Luis , Mayo‐Wilson, Evan , Meng, Xiuhong

BMJ Evidence-Based Medicine | April 29, 2026 | Volume: No volume available | Issue: No issue available | Pages: bmjebm-2025-114044

10.1136/bmjebm-2025-114044 | PMID 42055792 Get It

Objective To examine the potential errors of a general large language model (LLM) (ie, Claude 3.5 Sonnet) on data extraction from randomised controlled trials (RCTs). Design and setting An empirical study comparing Claude 3.5 Sonnet extractions against a human-performed verification dataset. The extraction tasks for Claude 3.5 Sonnet were based solely on original RCT portable document format (PDF) files. For PDFs that could not be directly extracted by Claude 3.5 Sonnet, optical character recognition was employed to convert them into text format before extraction. Participants A random sample of 664 trials was selected from a well-established trial bank and a final data pool was established based on rigorous manual cross-checking as a reference standard. Data sources PubMed, EMBASE, Scopus, Web of Science (all databases) and the Cochrane Central Register of Controlled Trials (CENTRAL) up to February 2023. Eligibility criteria for selecting studies RCTs on children involving medication and adverse events. Main outcome measures Claude 3.5 Sonnet was applied to extract the basic information (eg, trial design, population information and source of funding) and adverse outcomes (ie, name of adverse events, number of events). Claude 3.5 Sonnet outputs were compared against the final data pool and all errors were recorded. Results are presented as error rates and with 95% CI, estimated using a generalised linear mixed model. Results For the 664 trials, a total of 23 069 data cells were extracted via Claude 3.5 Sonnet, with 10 624 for basic information and 12 445 for adverse outcomes. The overall error rate for data extraction was 6.6% (95% CI 5.4% to 8.2%), with 5.7% (95% CI 5.2% to 6.1%) in basic information and 7.6% (95% CI 4.9% to 11.8%) in adverse outcomes. When stratified the 1542 total errors by error types, misallocation (assigning data to incorrect fields; 57.1%, 881/1542) and missed or omitted data (incomplete extraction of available data; 23.2%, 357/1542) accounted for the two most frequent errors, with misallocation occurring more in basic information (53.3%, 470/881), while missed or omitted data occurred more in adverse outcomes (96.1%, 343/357). Post hoc analysis examining the association between trial reporting quality (assessed using Consolidated Standards of Reporting Trials (CONSORT) 2025 and LLM data extraction error rates indicated that higher CONSORT adherence was associated with lower extraction error rates. Conclusions The data extraction error of Claude was relatively low, but it alerts LLM applications in evidence synthesis. Detailed checking for LLM outputs should be the primary consideration for evidence synthesisers.
Investigating the impact of problematic evidence on clinical practice guidelines and associated patient outcomes (VITALITY Study II): protocol
Xu, Chang, Kanamori, Luis Furuya, Cao, Hong, Wang, Xinyi, Li, Sheyu, Wen, Tianmeng, Fan, Shiqi , Gu, Zhichun , Lin, Lifeng, Yisha, Zuhaer , Cristea, Ioana Alina, Du, Liang, Clark, Juli, Zeng, Linan, Fan, Zhaohu , Golder, Su, Murad, M Hassan, Lin, Houwen, Mol, Ben W, Vohra, Sunita, Doi, Suhail A, Li, Sheyu , Clark, Justin , Xu, Chang , Li, Sheyu , Lin, Lifeng , Clark, Justin , Golder, Su , Murad, M Hassan , Mol, Ben W , Furuya‐Kanamori, Luis , Loke, Yoon Kong , Wen, Tianmeng , Stone, Jennifer , Cristea, Ioana A. , Du, L. C. , Qin, Zongshi , Song, Yang , Chu, Haitao , Vohra, Sunita , Doi, Suhail A

BMJ Open | March 31, 2026 | Volume: 16 | Issue: 3 | Pages: e115303

10.1136/bmjopen-2025-115303 | PMID 41916628 Get It

Introduction Increasing publication of fraudulent clinical trials poses a serious threat to evidence-based medicine. In the VITALITY Study I, we demonstrated that contamination by retracted trials significantly distorts evidence synthesis. The upcoming VITALITY Study II will take a step further and investigate how such problematic evidence undermines the credibility of guideline recommendations. Methods and analyses The VITALITY Study II will adopt a retrospective cohort design and will be structured as three work packages (WPs). To start with, a cohort of clinical practice guidelines (CPGs) that were contaminated by retracted trials and/or meta-analyses that included retracted trials will be established based on forward citation searching (WP1). Then, recommendations from these CPGs that used evidence from retracted trials and/or meta-analyses that synthesised these retracted trials will be re-evaluated after removing such problematic evidence, in terms of both the direction and strength of effect sizes (WP2). Finally, the subsequent impact on patient outcomes attributable to distorted recommendations will be estimated on a hypothetical population, measured by the number of expected benefit loss and the number of expected harm increment per 100 000 patients (WP3). Ethics and dissemination Formal ethical approval is not necessary for this study as it does not involve human or animal participants, nor does it involve the collection of primary data. We will disseminate the findings through publication in peer-reviewed journals and, whenever possible, presentations at academic conferences.
The Society of Pediatric Liver Transplantation ( SPLIT ): 2023 Registry Status
Banc‐Husu, Anna M. , Smith, Rachel , Kelly, Beau , Anand, Ravinder , Anderson, Sarah G. , Lobritto, Steven , Chapin, Catherine A. , Chartier, Marie‐Eve , Ekong, Udeme D. , Furuya, Katryn N. , García, Jennifer , González‐Peralta, Regino P. , Ibrahim, Samar H. , Kerkar, Nanda , Leung, Daniel H. , Ng, Vicky L. , Pai, Anita K., Pan, Debra H. , Shakhin, Victoria , Stoll, Janis , Wadera, Sheetal, Squires, James E. , (SPLIT), the Society of Pediatric Liver Transplantation, Lobritto, Steve , Elisofon, Scott A , Feldman, Amy , Gutierrez Sanchez, Luz Helena , Hildreth, Amber N , Himes, Ryan , Ibrahim, Samar H , Kerkar, Nanda , Leung, Daniel H , Mazareigos, George , Ng, Vicky L , Peters, Anna L , Shakhin, Victoria , Hsu, Evelyn , Squires, James E , Valentino, Pamela , Society of Pediatric Liver Transplantation (SPLIT) , Sanchez, Luz Helena Gutierrez , Hildreth, Amber , Jain, Ajay K. , Mazariegos, George , Valentino, Pamela L. , (SPLIT), the Society of Pediatric Liver Transplantation

Pediatric Transplantation | June 16, 2025 | Volume: 29 | Issue: 5 | Pages: No page available

10.1111/petr.70111 | PMID 40522021 Get It

ABSTRACT Background The Society of Pediatric Liver Transplantation (SPLIT) has undergone tremendous growth with > 45 sites contributing data focusing on improving outcomes in pediatric liver transplantation (LT). We report and compare outcomes from the SPLIT Registry. Methods Patients < 18 years with first‐time LT only enrolled into the SPLIT Registry between 2011 and 2023 were included. Data was stratified into eras from the last published registry update (era 1: 2011–2018, era 2: 2018–2023). Results Three thousand five hundred four participants from 47 centers were included (era 1: n = 2159; era 2: n = 1345). Age distribution differed with more children < 1 year. of age at LT in era 2 (era 1: 29% vs. era 2: 33%, p = 0.01). Indications for LT were similar, with biliary atresia (38.8%) and metabolic disease (16.0%) being most common. Exception point use was higher in era 2 (era 1: 45% vs. era 2: 56%, p < 0.001). No difference in graft type (deceased: 81% era 1 vs. 78% era 2, p = 0.78), patient survival at 90 days (era 1: 98.7% vs. era 2: 98.3%), 1 year (era 1: 97.2 vs. era 2: 96.8%), or 3 years (era 1: 95.3% vs. era 2: 95.2%) was noted. Rate of hepatic artery thrombosis was lower in era 2 (era 1: 7% vs. era 2: 5%, p = 0.02). Conclusions Trends in pediatric LT within SPLIT note similar LT indications and graft type, higher utilization of exception points, and lower HAT rates despite transplanting more children < 10 kg. This data underscores the evolution of pediatric LT toward higher survivability and overall patient outcomes.
Abstract 5919: Performance of the Oncuria-detect bladder cancer test for evaluating patients presenting with hematuria: results from a real-world clinical setting
Zhang, Zhen , Tikhonenkov, Sergei, Goodison, Steve , Sakatani, Toru , Murakami, Kaoru , Kim, Howard , Lee, Riko, Tanaka, Sunao , Rosser, Charles J. , Pagano, Ian , Calvez‐Kelm, Florence Le , Kobayashi, Takashi , Furuya, Hideki

Cancer Research | April 21, 2025 | Volume: 85 | Issue: 8_Supplement_1 | Pages: 5919-5919

10.1158/1538-7445.am2025-5919 Get It

Abstract Background and Objective: Bladder cancer is the 9th most diagnosed cancer worldwide with high incidences reported in Europe and the United States. Here, we evaluated the real-world performance of a commercially available multiplex immunoassay Oncuria-Detect that detects bladder cancer by simultaneously measuring a panel of 10 biomarker proteins in naturally voided urine samples. Methods: We tested prospectively collected urine samples from a real-world cohort of 1, 002 patients presenting to five USA centers, one European center and one Japanese center with hematuria. Assay results were collated with patient clinical data and a cancer diagnosis was defined by biopsy and pathology. The prevalence of bladder cancer in the cohort was 15.9%. Results: In a training set (n=684), the Oncuria-Detect assay correctly identified bladder cancer in 94/109 cases, representing a sensitivity of 91.8%, specificity of 71.6% (AUC 0.885; 95% CI 0.843 - 0.927) and with improved performance for high-grade bladder cancer and muscle-invasive bladder cancer (sensitivity 93.6% and 92.1%, respectively). In a test cohort of n =339 the AUC for detecting bladder cancer was 0.850 (95% CI 0.779-0.920). Conclusions and Implications: The multiplex Oncuria-Detect assay identified bladder cancer with high sensitivity and NPV, for low-grade and high-grade tumors alike. Oncuria-Detect’s high NPV could effectively rule out 66% of patients from requiring subsequent cystoscopy. Citation Format: Ian Pagano, Zhen Zhang, Sergei Tikhonenkov, Florence Le Calvez-Kelm, Steve Goodison, Toru Sakatani, Kaoru Murakami, Takashi Kobayashi, Howard Kim, Riko Lee, Sunao Tanaka, Charles J. Rosser, Hideki Furuya. Performance of the Oncuria-detect bladder cancer test for evaluating patients presenting with hematuria: results from a real-world clinical setting [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 5919.
Abstract A072: Oncuria®-Monitor, a non-invasive test for the detection of recurrent bladder cancer: Cross sectional performance evaluation from a multicenter study
Zhang, Zhen , Shimizu, Takuto , Tikhonenkov, Sergei, Tanaka, Sunao , Rosser, Charles J. , Goodison, Steve , Calvez‐Kelm, Florence Le , Miyake, Makito , Pagano, Ian , Shimizu, Takuto , Furuya, Hideki

Clinical Cancer Research | November 13, 2024 | Volume: 30 | Issue: 21_Supplement | Pages: A072-A072

10.1158/1557-3265.liqbiop24-a072 Get It

Abstract Up to 70% of patients with non-muscle invasive bladder cancer (NMIBC) experience disease recurrence, making it one of the most prevalent cancers in the US. The purpose of this study was to test the performance of Oncuria®-Monitor, a multiplex urinary biomarker assay for the monitoring of voided urine for recurrent bladder cancer. This cross-sectional, multicenter study included a total of 283 subjects with a history of bladder cancer. Voided urine specimens were collected prior to any procedures for multiplex analysis. The diagnostic performance of the biomarker panel was assessed using receiver operator curves (ROC) and descriptive statistical values (e.g., sensitivity and specificity) and compared with the patients’ clinical data and final diagnosis as defined by the results of cystoscopy. Oncuria®-Monitor achieved an overall sensitivity of 94.3%, specificity of 83.6% and negative predictive valuer (NPV) of 96.2% for the detection of recurrent bladder cancer. Patient summary: We conducted a large cross-sectional clinical study for detecting recurrent bladder cancer with a novel, simple urine test (Oncuria®- Monitor), which measures 10 bladder cancer associated proteins in a single voided urine and can be used to detect recurrent bladder cancer. We analyzed urines from 283 patients and demonstrated that Oncuria®-Monitor can detect recurrent bladder cancer with a high degree of accuracy, specifically in patients with high grade or high stage disease. In conclusion, the novel Oncuria®-Monitor urine test can be used to surveil patients with a history of bladder cancer. Citation Format: Zhen Zhang, Florence Le Calvez-Kelm, Makito Miyake, Ian Pagano, Takuto Shimizu, Sergei Tikhonenkov, Sunao Tanaka, Charles J Rosser, Steve Goodison, Hideki Furuya. Oncuria®-Monitor, a non-invasive test for the detection of recurrent bladder cancer: Cross sectional performance evaluation from a multicenter study [abstract]. In: Proceedings of the AACR Special Conference: Liquid Biopsy: From Discovery to Clinical Implementation; 2024 Nov 13-16; San Diego, CA. Philadelphia (PA): AACR; Clin Cancer Res 2024;30(21_Suppl):Abstract nr A072.
Abstract A071: Performance of the Oncuria®-Detect test for the evaluation of patients presenting with hematuria: Results from a real world clinical setting
Tikhonenkov, Sergei, Goodison, Steve , Zhang, Zhen , Sakatani, Toru , Murakami, Kaoru , Kim, Howard , Lee, Riko, Tanaka, Sunao , Rosser, Charles J. , Pagano, Ian , Calvez‐Kelm, Florence Le , Furuya, Hideki

Clinical Cancer Research | November 13, 2024 | Volume: 30 | Issue: 21_Supplement | Pages: A071-A071

10.1158/1557-3265.liqbiop24-a071 Get It

Abstract Bladder cancer is the 9th most diagnosed cancer worldwide with higher incidences reported in Europe and the United States. Here, we evaluate the performance of a novel, commercially available multiplex immunoassay querying for 10 proteins associated with a bladder cancer diagnostic signature (Oncuria®-Detect, Nonagen Bioscience Corp, Los Angeles, CA, US) for the detection of de novo bladder cancer, in a large prospectively collected real world cohort comprised of 995 patients, across seven centers, presenting with hematuria. The results were compared with the patients’ clinical data and final diagnosis as defined by the results of cystoscopy, with a prevalence of bladder cancer of 15.9%. In the test cohort, Oncuria®-Detect detected bladder tumors in 94/109 cancers, giving overall sensitivity of 86.2% and an overall negative predictive value (NPV) of 96.7% with corresponding specificity of 80.2% with favorable performance characteristics in high grade bladder cancer and muscle-invasive bladder cancer. Patient summary: We conducted a large cross-sectional clinical study for detecting de novo bladder cancer with a novel, simple urine test (Oncuria®-Detect), which measures 10 bladder cancer associated proteins in a single voided urine sample. We analyzed urines from 995 patients and demonstrated that the new urine test can detect bladder cancer with a high degree of accuracy, specifically in patients with high grade or high stage disease. In conclusion, the novel Oncuria®-Detect urine test can be used to help detect new bladder cancers. Citation Format: Ian Pagano, Sergei Tikhonenkov, Florence Le Calvez-Kelm, Steve Goodison, Zhen Zhang, Toru Sakatani, Kaoru Murakami, Howard Kim, Riko Lee, Sunao Tanaka, Charles J Rosser, Hideki Furuya. Performance of the Oncuria®-Detect test for the evaluation of patients presenting with hematuria: Results from a real world clinical setting [abstract]. In: Proceedings of the AACR Special Conference: Liquid Biopsy: From Discovery to Clinical Implementation; 2024 Nov 13-16; San Diego, CA. Philadelphia (PA): AACR; Clin Cancer Res 2024;30(21_Suppl):Abstract nr A071.
Association of SNPs in the PAI1 Gene with Disease Recurrence and Clinical Outcome in Bladder Cancer
Murakami, Kaoru , Furuya, Hideki , Hokutan, Kanani , Goodison, Steve , Pagano, Ian , Chen, Runpu , Shen, Cheng‐Huang , Chan, Michael W.Y. , Ng, Chi‐Fai , Kobayashi, Takashi , Miyake, Makito , Thornquist, Mark, Shimizu, Yoshiko, Hayashi, Kazukuni , Rosser, Charles J. , Miyake, Makito , Rosser, Charles J , Furuya, Hideki , Ogawa, Osamu , Wang, Zhangwei, Yu, Kai

International Journal of Molecular Sciences | March 6, 2023 | Volume: 24 | Issue: 5 | Pages: 4943

10.3390/ijms24054943 | PMID 36902377 Get It

Purpose: Bladder cancer (BCa) is one of the most common cancer types worldwide and is characterized by a high rate of recurrence. In previous studies, we and others have described the functional influence of plasminogen activator inhibitor-1 (PAI1) in bladder cancer development. While polymorphisms in PAI1 have been associated with increased risk and worsened prognosis in some cancers, the mutational status of PAI1 in human bladder tumors has not been well defined. Methods: In this study, we evaluated the mutational status of PAI1 in a series of independent cohorts, comprised of a total of 660 subjects. Results: Sequencing analyses identified two clinically relevant 3′ untranslated region (UTR) single nucleotide polymorphisms (SNPs) in PAI1 (rs7242; rs1050813). Somatic SNP rs7242 was present in human BCa cohorts (overall incidence of 72%; 62% in Caucasians and 72% in Asians). In contrast, the overall incidence of germline SNP rs1050813 was 18% (39% in Caucasians and 6% in Asians). Furthermore, Caucasian patients with at least one of the described SNPs had worse recurrence-free survival and overall survival (p = 0.03 and p = 0.03, respectively). In vitro functional studies demonstrated that SNP rs7242 increased the anti-apoptotic effect of PAI1, and SNP rs1050813 was related to a loss of contact inhibition associated with cellular proliferation when compared to wild type. Conclusion: Further investigation of the prevalence and potential downstream influence of these SNPs in bladder cancer is warranted.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome
Bruinsma, Fiona , Dowty, James G., Win, Aung Ko , Goddard, Laura C, Agrawal, Prachi , Attinà, Domenico , Bissada, Nabil K., Eisen, Daniel B. , Furuya, Mitsuko , Hansen, Thomas van Overeem , Houweling, Arjan C. , Johannesma, Paul C., Lim, Derek H.K., Lindor, Noralane M. , Luzzi, Valentina , Lynch, Maeve , Maffé, Antonella, Menko, Fred H. , Michels, Guido, Pulido, José S. , Ryu, Jay H. , Sattler, Elke , Steinlein, Ortrud K. , Tucker, Kathy , Beek, Irma van de , Riel, Lore van , Zénone, Thierry, Zompatori, Maurizo, Bondavalli, Davide , I-CONFIRM, Genetic Susceptibility Working Group, Bruinsma, Fiona Jane , Turchetti, Daniela , Maher, Eamonn R , Win, Aung K , Ryu, Jay H , Hansen, Thomas van Overeem , Luise, Monica De , Gasparre, Giuseppe , Genuardi, Maurizio , Gerdes, Anne‐Marie , Lencastre, André , Tomassetti, Sara , Steensel, Maurice A. M. Van , Zompatori, Maurizio , Walsh, Jennifer, Maher, Eamonn R. , Winship, Ingrid , I-CONFIRM, Genetic Susceptibility Working Group

Journal of Medical Genetics | February 27, 2023 | Volume: 60 | Issue: 4 | Pages: 317-326

10.1136/jmg-2022-109104 | PMID 36849229 Get It

Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding whether colonic polyps should be added to the criteria. Previous risk estimates have mostly been based on small clinical case series. Methods A comprehensive review was conducted to identify studies that had recruited families carrying pathogenic or likely pathogenic variants in FLCN . Pedigree data were requested from these studies and pooled. Segregation analysis was used to estimate the cumulative risk of each manifestation for carriers of FLCN pathogenic variants. Results Our final dataset contained 204 families that were informative for at least one manifestation of BHD (67 families informative for skin manifestations, 63 for lung, 88 for renal carcinoma and 29 for polyps). By age 70 years, male carriers of the FLCN variant have an estimated 19% (95% CI 12% to 31%) risk of renal tumours, 87% (95% CI 80% to 92%) of lung involvement and 87% (95% CI 78% to 93%) of skin lesions, while female carriers had an estimated 21% (95% CI 13% to 32%) risk of renal tumours, 82% (95% CI 73% to 88%) of lung involvement and 78% (95% CI 67% to 85%) of skin lesions. The cumulative risk of colonic polyps by age 70 years old was 21% (95% CI 8% to 45%) for male carriers and 32% (95% CI 16% to 53%) for female carriers. Conclusions These updated penetrance estimates, based on a large number of families, are important for the genetic counselling and clinical management of BHD syndrome.