Familial CancerPub Date : 2026-09-17DOI: 10.1007/s10689-026-00600-0
Leah Zaretsky, Marcy E Richardson, Taylor Coleman, Carrie Horton, Magan Trottier, Maggie Feng, Linda M Polfus, Aimee L Lucas
{"title":"An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.","authors":"Leah Zaretsky, Marcy E Richardson, Taylor Coleman, Carrie Horton, Magan Trottier, Maggie Feng, Linda M Polfus, Aimee L Lucas","doi":"10.1007/s10689-026-00600-0","DOIUrl":"10.1007/s10689-026-00600-0","url":null,"abstract":"<p><p>Numerous studies have demonstrated that Ashkenazi Jewish individuals heterozygous for APC c.3902T > A; p.Ile1307Lys have 1.7-fold increased odds of colorectal adenocarcinoma (CRC). The cancer risk for homozygotes is unknown, and published data is based on small sample sizes. Here, we aim to quantitatively evaluate the odds of CRC in homozygotes from a clinical diagnostic setting. Analyses comparing the demographic and clinical histories among heterozygotes (n = 340) or homozygotes (n = 74) were compared to individuals with MSH6-associated Lynch syndrome (n = 372) and individuals from a pan-cancer panel of up to 90 genes who were negative for APC I1307K, MSH6 (likely) pathogenic (LP/P) variants, and other reportable LP/P variants after exclusions, henceforth referred to as wildtype (WT, n = 19,809). Comparisons included Fisher's exact or two-sample t-test and multivariate logistic regression. Homozygotes demonstrated a trend toward increased odds of CRC compared to WT (OR: 2.48; p = 0.074), and there was no difference between heterozygotes and WT (OR: 0.94; p = 0.83). MSH6-positive individuals had increased odds of CRC relative to homozygotes (OR: 3.54; p < 0.0001) but this was not significant in the logistic regression (OR: 1.19; p = 0.78). While homozygotes but not heterozygotes demonstrated an increase in CRC OR compared to WT, there was no statistically distinct odds of CRC between heterozygotes and homozygotes in this cohort. While the ORs herein support that the observed increase in CRC for homozygotes was more modest than that observed for MSH6-related Lynch syndrome in this cohort, current sample size and selection bias limit precise risk estimation and do not allow for distinction between modestly increased risk and no risk of CRC.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13585870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988528","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":"Current status of knowledge, diagnosis and management of hereditary colorectal cancer among physicians in China: a national questionnaire survey of 81 doctors from different hospitals.","authors":"Baoshuai Liu, Juan Li, Guorong Wang, Changhua Zhuo, Xiaohong Yang, Nanxin Zheng, Cheng Xin, Hongli Yan, Wei Zhang, Xian Hua Gao","doi":"10.1007/s10689-026-00605-9","DOIUrl":"10.1007/s10689-026-00605-9","url":null,"abstract":"<p><p>Hereditary colorectal cancer (HCRC), including Lynch syndrome (LS) and familial adenomatous polyposis (FAP), accounts for 5-10% of colorectal cancers (CRC); however, little is known about physicians' awareness and management of these conditions in China. We conducted a nationwide cross-sectional survey of 81 physicians from 81 Chinese hospitals using a 74-item questionnaire assessing genetic testing, pedigree management, and LS/FAP protocols. The mean annual CRC caseload was 1093 per hospital, in stark contrast to only 32 HCRC cases. The LS diagnosis rate was alarmingly low (0.83% vs. expected 2-3%). Although 95.1% of hospitals offered dMMR immunohistochemistry, only 85.3% of CRC patients received it. Genetic testing completion rates were poor: 74.1% and 76.5% of hospitals reported 0-25% completion for suspected HCRC patients and first-degree relatives, respectively. Major barriers included high costs (93.8%), lack of insurance coverage (75.3%), and patient refusal (51.9%). Fewer than one-third of centers adhered to National Comprehensive Cancer Network (NCCN) guidelines. Only 8.6% incorporated risk-reducing hysterectomy and bilateral salpingo-oophorectomy into standard practice. Merely 13.6% maintained family management systems, 23.5% employed genetic counselors, and 46.9% had received HCRC training. HCRC diagnosis and management in China are inadequate, with substantial guideline-practice gaps. Urgent interventions are needed to improve physician education, reduce financial barriers, and implement standardized protocols.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929477","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}
Familial CancerPub Date : 2026-09-10DOI: 10.1007/s10689-026-00601-z
Preethi Vembar, Eryn Dow
{"title":"Uptake of germline testing for Lynch Syndrome in patients with deficient mismatch repair/ microsatellite-high colorectal cancer in the public hospital system in South Australia.","authors":"Preethi Vembar, Eryn Dow","doi":"10.1007/s10689-026-00601-z","DOIUrl":"10.1007/s10689-026-00601-z","url":null,"abstract":"<p><p>Lynch syndrome (LS) accounts for approximately 4% of colorectal cancer (CRC) cases and arises from pathogenic variants in mismatch repair (MMR) genes. Australian guidelines recommend universal MMR or microsatellite instability (MSI) screening in all CRC patients; however, real-world uptake remains variable. This study evaluated rates of MMR/MSI screening, germline testing, and genetics referrals across two major public hospitals in South Australia. A retrospective review of 1775 patients discussed at colorectal multidisciplinary team meetings in the Royal Adelaide and Queen Elizabeth hospitals between January 2021 and December 2023 was conducted to identify rates of MMR/MSI screening and subsequent referral of eligible patients to genetics. Of the 1129 colorectal cancer cases identified, MMR/MSI testing was performed in 93.2% (1052/1129), with deficiency detected in 12.5% (131/1052). Of these, 37% (49/131) were eligible for genetics referral after exclusion of somatic causes. Among eligible patients, 73.5% (36/49) were referred, and 43% (21/49) underwent germline testing. LS was confirmed in 12 patients (9% of deficient MMR CRC), while 9 patients (6.9%) were classified as having Lynch-like syndrome. Despite high screening rates, gaps remain in genetics referral and testing. Barriers included lack of reflex testing, loss to follow-up, and patient refusal. Targeted system-level interventions and improved genomic education are needed to enhance adherence to guidelines and optimise patient outcomes.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148918875","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}
Familial CancerPub Date : 2026-09-02DOI: 10.1007/s10689-026-00599-4
A Rametta, M Barella, A Scardino, F Barbetta, E Tamborini, F Perrone, A Busico, L Agnelli, S Rota, E Gusmaroli, M Stellato, A Nuzzo, V Guadalupi, M Claps, M T Ricci, G Procopio, G Pruneri, M Milione, P Giannatempo, M Vitellaro
{"title":"Lynch syndrome-associated urothelial carcinoma: clinical and molecular findings from a single-institution cohort.","authors":"A Rametta, M Barella, A Scardino, F Barbetta, E Tamborini, F Perrone, A Busico, L Agnelli, S Rota, E Gusmaroli, M Stellato, A Nuzzo, V Guadalupi, M Claps, M T Ricci, G Procopio, G Pruneri, M Milione, P Giannatempo, M Vitellaro","doi":"10.1007/s10689-026-00599-4","DOIUrl":"10.1007/s10689-026-00599-4","url":null,"abstract":"<p><p>Lynch syndrome-associated urothelial carcinoma (LS-UC) is a rare and undercharacterized clinical entity. While FGFR3 alterations are well described in sporadic urothelial carcinoma, their prevalence and clinical implications in LS-UC remain unclear. We aimed to provide a comprehensive clinical and molecular characterization of LS-UC. We conducted a retrospective single-center study including patients with Lynch syndrome (LS) and histologically confirmed urothelial carcinoma (UC). Clinical, pathological, treatment, and follow-up data were collected. Targeted next-generation sequencing was performed on available tumor samples to assess genomic alterations, with particular attention to FGFR3 mutations. A total of 27 patients with LS-UC were identified, with a predominance of upper urinary tract involvement (70%). Most tumors were diagnosed at an early stage and initially managed with local treatment. During a median follow-up of 92 months, 48% of patients experienced recurrence, with a median time to recurrence of 37 months. Recurrences were predominantly local and were mainly managed with additional surgical or intravesical treatments. No deaths were attributable to UC at last follow-up. Molecular analysis was feasible in 9 cases. FGFR3 mutations were detected in 67% of evaluable samples, with the recurrent p.Arg248Cys hotspot identified in 55% of cases. Additional alterations involved TP53, SWI/SNF complex genes, and PIK3CA, which co-occurred with FGFR3 p.Arg248Cys. No gene fusions were identified. This study expands the limited molecular and clinical evidence on Lynch syndrome-associated urothelial carcinoma. Beyond confirming the recurrent role of FGFR3 (notably p.Arg248Cys), our comprehensive multigene profiling enriches the current genomic knowledge for this rare population. Multi-center collaborative efforts remain essential to aggregate larger datasets and ultimately guide personalized patient management.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13538261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879542","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}
Familial CancerPub Date : 2026-08-29DOI: 10.1007/s10689-026-00597-6
Kelly Kohut, Sarah Cable, Alekhya Ashokan, Stefania Vicari, Hannah Ditchfield, Julie Young, Ben Bux, Fiona Lalloo
{"title":"The evolution of hereditary cancer genetic counselling: mainstreaming, service redesign and patient experience in Lynch syndrome.","authors":"Kelly Kohut, Sarah Cable, Alekhya Ashokan, Stefania Vicari, Hannah Ditchfield, Julie Young, Ben Bux, Fiona Lalloo","doi":"10.1007/s10689-026-00597-6","DOIUrl":"10.1007/s10689-026-00597-6","url":null,"abstract":"<p><p>Genetic counselling for hereditary cancer predisposition has evolved substantially over more than three decades, driven by advances in genomic technologies and the growing use of tumour and germline testing. These developments have expanded access to hereditary cancer testing, treatment and prevention, while also introducing new clinical, psychosocial and system-level challenges. This review examines the transition from traditional specialist-led genetic counselling to mainstreamed testing pathways. Using Lynch syndrome as a paradigm, we explore how service redesign, personalised risk communication and patient experience intersect in contemporary hereditary cancer care. This invited review synthesises clinical, academic and patient perspectives on the evolution of hereditary cancer genetic counselling. Lived experiences of Lynch syndrome were incorporated through patient and public involvement contributors involved in manuscript development and interpretation. Mainstreamed testing has expanded access to genomic information and strengthened opportunities for cascade testing and prevention within families. However, it has also increased testing volumes, complexity of results interpretation and reliance on non-genetics clinicians. As a result, effective care requires close coordination between genetics and cancer services, alongside support for shared decision-making, family communication and psychosocial needs. This review uniquely integrates clinical evidence and lived experience to highlight how mainstreaming has transformed the delivery of hereditary cancer genetic counselling but not the need for specialist genetics expertise. Lynch syndrome illustrates how genomics can be integrated into routine cancer care while maintaining personalised counselling and family-centred follow-up. These principles are relevant across hereditary cancer predispositions and inform the future development of genetic counselling services.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13526072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857202","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}
Familial CancerPub Date : 2026-08-29DOI: 10.1007/s10689-026-00594-9
Marjoleine F Broekema, Florian Violon, Patricia Vaduva, Maartje Vogel, Nicole de Leeuw, Fenne Komdeur
{"title":"The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey.","authors":"Marjoleine F Broekema, Florian Violon, Patricia Vaduva, Maartje Vogel, Nicole de Leeuw, Fenne Komdeur","doi":"10.1007/s10689-026-00594-9","DOIUrl":"10.1007/s10689-026-00594-9","url":null,"abstract":"<p><p>Rare pathogenic variants affecting components of the evolutionary conserved cAMP/protein kinase A (PKA) signalling pathway are implicated in a spectrum of adrenocortical disorders. Germline inactivating PRKAR1A variants leading to constitutive PKA activation, underlie primary pigmented nodular adrenocortical disease (PPNAD) in Carney complex. More recently, several patients with PPNAD and other types of bilateral nodular adrenal disease (BNAD) have been diagnosed with rearrangements in chromosome 19 at band p13.12, resulting in copy number gains of the entire PRKACA gene. Here, we report the identification of a 19p13.12 rearrangement, resulting in a duplication of the PRKACA gene, in a 32-year-old female from whom the genetic aetiology remained unknown for 20 years. Furthermore, we provide an updated overview of patients with PRKACA germline copy number gains that have previously been reported in the literature.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13526117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857250","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}
Familial CancerPub Date : 2026-08-04DOI: 10.1007/s10689-026-00592-x
Vera M Witjes, Joanne A de Hullu, Angela van Remortele, Lilian Vreede, Michiel Simons, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg
{"title":"Opportunities to improve detection of genetic predisposition for ovarian cancer applying the Tumor-First workflow.","authors":"Vera M Witjes, Joanne A de Hullu, Angela van Remortele, Lilian Vreede, Michiel Simons, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg","doi":"10.1007/s10689-026-00592-x","DOIUrl":"10.1007/s10689-026-00592-x","url":null,"abstract":"<p><p>Genetic testing in ovarian carcinoma (OC) patients is very important for patients and their relatives. The Tumor-First workflow uses a tumor DNA test to stratify germline testing for hereditary cancer predisposition as well as treatment options with PARP inhibitors. This workflow is adopted and successfully implemented nationwide. Here, we evaluated recent tumor DNA testing rates in the Netherlands to identify untested OC patient groups and optimize tumor DNA testing rates. OC patients diagnosed in 2023 or 2024 were selected from the Netherlands Cancer Registry. We analyzed patient characteristics associated with the likelihood of tumor DNA testing using multivariable logistic regression. Tumor-First testing was performed for 1765 out of the 2221 (79%) OC patients. Patients diagnosed with advanced stage OC were more likely to receive tumor DNA testing (OR = 2.5, p < 0.001) than those with low-stage disease. Compared with patients who underwent surgery as primary treatment, those who received chemotherapy or no primary treatment were less likely to be tested (OR = 0.21 and OR = 0.07, respectively, p < 0.001). Patients who died within 100 days were less likely to receive testing (OR = 0.57, p = 0.003). Patients without resection after diagnosis on biopsy/cytology had the lowest Tumor-First testing rates (58% vs. 87-95%, χ2 p < 0.001). Tumor-First testing rates are high. However, OC patients that do not undergo a resection are less likely to undergo testing. With these data strategies to identify hereditary cancer predisposition in patients and their relatives can be further improved.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668882","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}
Familial CancerPub Date : 2026-08-04DOI: 10.1007/s10689-026-00593-w
Aysel Ahadova, Fatima Fayyaz, Leon Marin Grez, Hendrik Bläker, Matthias Kloor
{"title":"Routes to colorectal cancer in Lynch syndrome: a decade of molecular and clinical insights converging on Schrödinger's cat.","authors":"Aysel Ahadova, Fatima Fayyaz, Leon Marin Grez, Hendrik Bläker, Matthias Kloor","doi":"10.1007/s10689-026-00593-w","DOIUrl":"10.1007/s10689-026-00593-w","url":null,"abstract":"<p><p>Colorectal cancer (CRC) development in Lynch syndrome (LS) has long been regarded to follow an adenoma-carcinoma sequence accelerated in comparison to microsatellite-stable (MSS) CRC development. Yet, several clinical observations challenged this hypothesis, most notably the persistently high CRC incidence under colonoscopy surveillance, a non-measurable benefit from shorter screening intervals, and substantial differences in cancer risk between carriers of the different mismatch repair (MMR) genes. Advances in the last decade have produced new hypotheses, highlighting the distinct biology of LS CRC and unravelling several co-existing pathways to cancer. Alongside the genomic heterogeneity, the immunogenic load created by the accumulation of frameshift mutations imposing selective pressure and leading to immune evasion, appears to be a critical step for cancer manifestation. We discuss potential clinical implications of these advances in understanding CRC pathogenesis for cancer prevention in LS and outline open questions that remain.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13437670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148668855","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}
Familial CancerPub Date : 2026-08-01DOI: 10.1007/s10689-026-00595-8
M Bringas, I Echavarría, C Polo, N Jiménez-Alduán, C Flores, A Muñoz, L Ortega, G Torres, J Soto-Alsar, A Calvo, P García Alfonso, J A Pajares, J Suárez-González, M Del Monte-Millán, Tatiana Massarrah, F Ayala de la Peña, M Martín, I Márquez-Rodas
{"title":"Mainstream and fast-track genetic testing in pancreatic cancer patients and its impact on treatment: our experience in a tertiary hospital in Spain.","authors":"M Bringas, I Echavarría, C Polo, N Jiménez-Alduán, C Flores, A Muñoz, L Ortega, G Torres, J Soto-Alsar, A Calvo, P García Alfonso, J A Pajares, J Suárez-González, M Del Monte-Millán, Tatiana Massarrah, F Ayala de la Peña, M Martín, I Márquez-Rodas","doi":"10.1007/s10689-026-00595-8","DOIUrl":"10.1007/s10689-026-00595-8","url":null,"abstract":"<p><p>Pancreatic cancer (PC) is a highly lethal malignancy. 4-10% are linked to inherited mutations in genes such as BRCA1/2, PALB2, ATM and mismatch repair (MMR) genes. Germline testing is essential to guide treatment decisions, yet delays remain common. Genetic testing models without pre-test assessment in a Hereditary Cancer Unit (HCU), have emerged as a strategy to improve earlier clinical decision-making. A retrospective, observational and descriptive study was conducted on 223 PC patients (55% male; average age 64 years) who underwent rapid germline genetic testing at Hospital General Universitario Gregorio Marañón (Madrid, Spain) between April 2019 and May 2024. Tests were ordered by oncologists with brief pre-test counseling, followed by a nurse-facilitated consent and peripheral blood collection. Post-test counseling in an HCU was offered for patients with variants of unknown significance (VUS) and pathogenic/likely pathogenic variants (PV), or upon physician or patient request. PV and VUS were identified in 32 (14.3%) and 82 (36.7%) patients, respectively. 50% of PV carriers did not meet familial PC criteria. Actionable mutations were detected in 14 (43.7%) of PV carriers, involving BRCA2 (6/32), PALB2 (1/32) and ATM (7/32). Treatment modifications occurred in 7/223 patients (3%), including PARP inhibitors or platinum-based regimens. Median time from the genetic test request to the results was 48 days (95% CI, 44-52). Mainstream genetic testing in PC is a viable approach to expedite results and facilitate precision oncology. Further studies are needed to evaluate long-term outcomes, cost-effectiveness and the psychosocial impact compared to traditional genetic counseling pathways.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148653333","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}
Familial CancerPub Date : 2026-07-24DOI: 10.1007/s10689-026-00596-7
Luigi Cerbone, Matteo Perrino, Federica Grosso, Monica Ganzinelli, Giuseppe Lo Russo, Giulia Pasello, Paolo Andrea Zucali, Giovanni Luca Ceresoli, Mario Occhipinti, Marika Sculco
{"title":"Brief report: attitudes and barriers toward genetic testing in pleural mesothelioma: a nationwide Italian survey.","authors":"Luigi Cerbone, Matteo Perrino, Federica Grosso, Monica Ganzinelli, Giuseppe Lo Russo, Giulia Pasello, Paolo Andrea Zucali, Giovanni Luca Ceresoli, Mario Occhipinti, Marika Sculco","doi":"10.1007/s10689-026-00596-7","DOIUrl":"10.1007/s10689-026-00596-7","url":null,"abstract":"<p><p>Pleural mesothelioma (PM) is a malignancy with a relevant genetic component, with germline mutations identified in up to 12% of cases. International guidelines recommend universal germline testing; however, its implementation in routine clinical practice remains inconsistent. This nationwide survey aimed to assess current clinical practice, attitudes, and barriers related to genetic testing among Italian specialists within the Mesothelioma Team Italy (MET-I) network. A 24-item questionnaire was distributed to MET-I members in 2025, exploring access to testing, clinical use, and perceived obstacles to both germline and somatic DNA sequencing. Forty-five physicians responded (53.6%). Although access to germline testing was relatively high (77.8%), only 6.7% of respondents routinely recommended it. Conversely, somatic NGS was widely available (95.6%) and primarily used for clinical trial screening (66.7%). The main barriers to germline testing included costs (62.2%), limited access to genetic counseling (51.1%), and insufficient physician awareness (48.8%). Despite the availability of genetic testing technologies, germline genetic testing in PM is underutilized in Italy.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"25 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13400487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148577929","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}