Tumori最新文献

{"title":"KRAS inhibitors in drug resistance and potential for combination therapy.","authors":"Lala S Rathod, Nikhil S Sakle, Santosh N Mokale","doi":"10.1177/03008916241289206","DOIUrl":"10.1177/03008916241289206","url":null,"abstract":"<p><p>Kirsten Rat Sarcoma (KRAS) is a potent target for cancer therapy because it acts as a signaling hub, engaging in various signaling pathways and regulating a number of cellular functions like cell differentiation, proliferation, and survival. Recently, an emergency approval from the US-FDA has been issued for KRAS^G12C inhibitors (sotorasib and adagrasib) for metastatic lung cancer treatment. However, clinical studies on covalent KRAS^G12C inhibitors have rapidly confronted resistance in patients. Many methods are being assessed to overcome this resistance, along with various combinatorial clinical studies that are in process. Moreover, because KRAS^G12D and KRAS^G12V are more common than KRAS^G12C, focus must be placed on the therapeutic strategies for this type of patient, along with sustained efforts in research on these targets. In the present review, we try to focus on various strategies to overcome rapid resistance through the use of combinational treatments to improve the activity of KRAS^G12C inhibitors.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"20-40"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591357","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":"Time trends of cancer incidence in young adults (20-49 years) in Italy. A population - based study, 2008-2017.","authors":"Fabrizio Stracci, Diego Serraino, Mario Fusco, Walter Mazzucco, Sabrina Fabiano, Andrea Tittarelli, Viviana Perotti, Luigino Dal Maso, Manuel Zorzi, Enrica Migliore, Margherita Ferrante, Cinzia Gasparotti, Silvia Ghisleni, Rossella Cavallo, Maria Teresa Pesce, Claudia Casella, Paola Ballotari, Rocco Galasso, Federica Manzoni, Eugenia Spata, Maria Adalgisa Gentilini, Francesca Bella, Anna Clara Fanetti","doi":"10.1177/03008916241297078","DOIUrl":"10.1177/03008916241297078","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate short-term (2008-2017) cancer incidence trends in Italy for individuals aged 20-49 years by sex and cancer type.</p><p><strong>Methods: </strong>Observational study from population-based data collected by 20 Italian Cancer Registries, covering 33% of the Italian population. The age-standardized incidence rates (ASRs), overall and stratified by area, sex, cancer site or type, and major age groups (i.e., 20-39, 40-49), were computed.</p><p><strong>Results: </strong>In 2008-2017, cancer incidence rates were almost two times higher in Italian women aged 20-49 than in age-corresponding men (202.2 vs 112.4 per 100,000) on account of elevated rates of breast and thyroid cancers. Contrasting trends emerged according to cancer sites/types. ASRs for female breast cancer increased steadily from 2008 (82.4) to 2014 (86.2) and remained unchanged thereafter (i.e., 86.5 in 2017). During the study period, there was an increase for testicular cancer, skin melanoma in both sexes, and thyroid cancer until 2013 (followed by a slight decrease from 2014 to 2017). Conversely, ASRs consistently declined for colorectal cancer and were substantially stable or slightly decreasing for cervix uteri (from 8.1 to 7.7), ovary (from 7.5 to 6.9) and non-Hodgkin lymphoma (from 8.3 to 7.6 in men and from 5.9 to 5.5 in women).</p><p><strong>Conclusions: </strong>Study findings do not support a unique temporal pattern for the incidence of early-onset cancer in Italy until 2017, as reported in other countries. Increases in incidence documented in both sexes for some tumor sites was counterbalanced by a decrease in other sites. The importance of supporting prevention strategies from the youngest of ages must be emphasized, and the role of anticipated screening should be carefully addressed.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"55-70"},"PeriodicalIF":2.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644833","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":"The last journey, coming home before dying for migrant cancer patients: A case series.","authors":"Luca Zambelli, Alberto Gigliotti, Clara Bianchessi, Simeone Liguori, Sergio Defendi","doi":"10.1177/03008916251316175","DOIUrl":"https://doi.org/10.1177/03008916251316175","url":null,"abstract":"<p><strong>Background: </strong>Global migration has led to an increasing number of migrant patients receiving cancer diagnoses in foreign countries. These individuals often experience worse outcomes due to advanced disease at diagnosis and limited access to specialized care. When palliative care becomes the primary option, many express a wish to return to their home country for End-of-Life care. However, no guidelines or care pathways currently address this sensitive issue.</p><p><strong>Case presentation: </strong>This case series describes three migrant patients who wished to return to their home countries for End-of-Life care. The first case highlights the critical role of early communication, administrative challenges, and disparities in palliative care availability. The second case demonstrates that even highly disabled patients can undertake a final journey if clinically stable, provided appropriate accommodations and support are in place. Both cases followed a similar framework: identifying a palliative care provider in the home country and having a Mini-Team member accompany the patient. In contrast, the third case underscores the difficulty of fulfilling this wish when clinical deterioration progresses rapidly, preventing repatriation.</p><p><strong>Conclusion: </strong>Fulfilling the desire of migrant oncology patients to return to their home countries for End-of-Life care presents various challenges. These obstacles may arise from differences in national healthcare systems, administrative issues, and the patient's clinical condition. It is crucial for the Mini-Team to identify this wish as early as possible to secure appropriate arrangements in the patient's home country. Additionally, having a member of the Mini-Team accompany the patient during the journey can provide significant support.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916251316175"},"PeriodicalIF":2.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068137","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":"Emerging therapeutic strategies in Lynch syndrome-associated colorectal cancer and the role of MMR testing.","authors":"Silvia Negro, Eleonora Perissinotto, Isabella Mammi, Gino Crivellari, Francesca Schiavi, Filippo Cappello, Gaya Spolverato, Davide Ferrari, Emanuele Rausa, Marco Vitellaro, Matteo Fassan, Giulia Martina Cavestro, Alessandro Mannucci, Sara Lonardi, Francesca Bergamo, Emanuele D L Urso","doi":"10.1177/03008916241310706","DOIUrl":"https://doi.org/10.1177/03008916241310706","url":null,"abstract":"<p><p>Lynch syndrome is the most common hereditary cancer predisposition, accounting for 1-5% of colorectal cancer cases, and is driven by germline mutations in DNA mismatch repair genes. Despite established diagnostic criteria, such as the Amsterdam guidelines, Lynch syndrome remains largely underdiagnosed. To address this gap, universal tumour screening has been introduced for all newly diagnosed cases of colorectal cancer and endometrial cancer, significantly improving early detection. The surgical management of colorectal cancer in patients with Lynch syndrome remains controversial. While extended colectomy reduces the risk of metachronous colorectal cancer, surgical strategies must be carefully individualised based on patient-specific factors. Chemoprevention with aspirin has shown promise in reducing the risk of colorectal cancer, with ongoing trials investigating optimal dosing. Immunotherapy, particularly immune checkpoint inhibitors, has revolutionised the treatment of Microsatellite Instability-High/deficient Mismatch Repair colorectal cancer, offering durable responses and significant survival benefits. In addition, the neoadjuvant use of immune checkpoint inhibitors is paving the way for non-surgical interventions, potentially transforming the management of colorectal cancer in patients with Lynch syndrome. A multidisciplinary approach and continued research are essential to optimise cancer prevention, treatment and quality of life for people with Lynch syndrome.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241310706"},"PeriodicalIF":2.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068134","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":"<i>MLH1</i> promoter hypermethylation and Lynch Syndrome: When to test for constitutional epimutations of <i>MLH1</i> gene?","authors":"Laura Cazzaniga, Cristina Zanzottera, Sara Mannucci, Francesca Fava, Monica Marabelli, Mariarosaria Calvello, Irene Feroce, Matilde Risti, Eliza Del Fiol Manna, Lucio Bertario, Davide Serrano, Bernardo Bonanni","doi":"10.1177/03008916241312530","DOIUrl":"https://doi.org/10.1177/03008916241312530","url":null,"abstract":"<p><p>Lynch syndrome is a genetic condition predisposing to cancer, particularly colorectal cancer and endometrial cancer, due to germline mutations in MisMatch Repair genes. More rarely, Lynch syndrome is the result of a constitutional <i>MLH1</i> promoter methylation. This review summarizes the current knowledge about the role of this epigenetic mechanism in the Lynch syndrome. Universal Tumor Screening, performed on tumoral specimens to identify features suggestive of Lynch syndrome, shows the same features both in the case of sporadic cancers and Lynch syndrome-cancers due to a constitutional <i>MLH1</i> methylation: microsatellite instability, deficiency of MisMatch Repair proteins, and methylation of <i>MLH1</i> gene. Over the last few years, identifying methylation of <i>MLH1</i> promoter on tumors was used to discern sporadic tumors from Lynch syndrome tumors: the methylation of the <i>MLH1</i> promoter was usually explained as a somatic event and this could lead to a missed diagnosis of some Lynch syndrome cases. Therefore, establishing criteria to decide when to test patients for constitutional <i>MLH1</i> methylation is urgent. In the case of microsatellite instability/deficiency of MisMatch Repair tumors with <i>MLH1</i> methylation, a germline genetic test could be requested for all colorectal cancer patients aged 55 years or younger and all endometrial cancer patients younger than 50 years old, independently from family history. The prevalence of germline <i>MLH1</i> epimutations is not precisely known and possibly underestimated. The associated cancer risk could be similar to that due to a <i>MLH1</i> sequence variant. <i>MLH1</i> epimutations could be secondary to other genetic defects and follow an autosomal dominant inheritance. On the contrary, primary epimutations are often \"<i>de novo</i>\" events, and their transmission does not follow Mendelian rules.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241312530"},"PeriodicalIF":2.0,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012446","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 the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study.","authors":"Davide Ferrari, Emanuele Rausa, Sara Lauricella, Clorinda Brignola, Antonio Zaccara, Stefano Signoroni, Maria Teresa Ricci","doi":"10.1177/03008916241308119","DOIUrl":"https://doi.org/10.1177/03008916241308119","url":null,"abstract":"<p><strong>Background: </strong>Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.</p><p><strong>Methods: </strong>Data from the Hereditary Digestive Tumors Registry at Fondazione IRCCS Istituto Nazionale dei Tumori of Milan from 1995 to 2018 were analyzed. The study included 397 LS patients, as categorized based on adherence to surveillance. Statistical analyses, including multivariable logistic regression, were employed to identify factors influencing adherence.</p><p><strong>Results: </strong>Out of 397 LS patients, 305 (76.8%) completed surveillance, and 92 (23.2%) were lost during surveillance. Fifty-two patients developed colorectal cancer during the surveillance: 34 among patients who completed the surveillance and 18 among those who did not (p<0.036). Factors positively influencing adherence included genetic counseling and higher education, while the distance from the referral center had a negative impact. The survival rate was 83.5% at 240-months.</p><p><strong>Conclusions: </strong>This study emphasizes the importance of adhering to a regular colorectal surveillance program for LS individuals. Genetic counseling and higher education emerged as a crucial factor positively affecting adherence. The negative impact was observed for geographical distance from the referral center.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241308119"},"PeriodicalIF":2.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898496","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":"Risk-based breast cancer screening: What are the challenges?","authors":"Isabel T Rubio, Caroline A Drukker, Antonio Esgueva","doi":"10.1177/03008916241306971","DOIUrl":"https://doi.org/10.1177/03008916241306971","url":null,"abstract":"<p><p>Population-based screening programs aim to detect the disease at an early stage, so less treatment will be needed as well as having better oncological outcomes when diagnosed earlier. In the majority of European countries, breast cancer screening programs are designed based on women age.Meta-analysis of randomized clinical trial data demonstrates a reduction in the relative risk of breast cancer mortality due to screening, which has been estimated to be approximately 20%.One of the controversies about the population breast screening programs is that age-based screening ignores women's individual breast cancer risk. Identification of high-risk women may intensify the screening measures and will optimize the population screening programs to align them to individual risks.Family history of breast cancer is one of the risk factors to consider along with the recently developed polygenic risk scores to stratify women into a risk group. Other factors to assess risk include: mammographic breast density; B3 lesions with atypia in breast biopsy specimens; hormonal and lyfestyle and, potentially, epigenetic markers. Still, there are some difficulties in validating these factors and reflecting the interaction between risk factors in the models.Ongoing screening trials (e.g., WISDOM and MyPebs) are currently evaluating the clinical acceptability and utility of risk-stratified screening programs in the general population, and should provide valuable information for the possible implementation of such programs.Communication of complex risk information to the women, as well as assessing ethical concerns need to be addressed before implementation of risk stratified programs.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241306971"},"PeriodicalIF":2.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855595","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":"Combined CAR-T/HSCT approach in a patient with refractory acute lymphoblastic leukemia and cystic fibrosis.","authors":"Benedetta E Di Majo, Francesca Vendemini, Sonia Bonanomi, Pietro Casartelli, Sara Napolitano, Giorgio Ottaviano, Giulia Prunotto, Marta Verna, Alessandra Sala, Guglielmo M Migliorino, Francesco Petrella, Lorenzo Rosso, Laura Claut, Paola Rafaniello Raviele, Carmelo Rizzari, Andrea Biondi, Adriana Balduzzi, Giovanna Lucchini","doi":"10.1177/03008916241301912","DOIUrl":"https://doi.org/10.1177/03008916241301912","url":null,"abstract":"<p><strong>Introduction: </strong>The association of acute lymphoblastic leukaemia (ALL) and cystic fibrosis (CF) is rare. We present the case of a paediatric patient affected by CF and refractory B-cell precursor (BCP) ALL, who was treated with combined chimeric antigen receptor T-cells (CAR-T) and allogeneic haematopoietic stem cell transplantation (HSCT).</p><p><strong>Case description: </strong>Autologous-CD19 targeting CAR-T allowed to achieve molecular remission and spare chemo-related toxicity. As B-cell aplasia was not achieved, the patient underwent HSCT after total body irradiation (TBI)-based conditioning. The course after HSCT was complicated by veno-occlusive disease, status epileptic and pulmonary invasive fungal infection which showed progressive radiological worsening despite aggressive treatment. Five months after HSCT a left upper lobe lobectomy was successfully performed. Thirteen months after HSCT the patient is in complete disease remission with normal lung function.</p><p><strong>Conclusions: </strong>CAR-T cell therapy bridge-to-HSCT may be an effective approach in paediatric refractory ALL in the context of multiple comorbidities as observed in CF.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241301912"},"PeriodicalIF":2.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839678","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":"Four pathogenic variants co-occurring in a MINAS early-onset breast cancer.","authors":"Davide Bondavalli, Mario Urtis, Maurizia Grasso, Carmela Giorgianni, Chiara Cassani, Adele Sgarella, Alberta Ferrari, Gianpiero Rizzo, Eloisa Arbustini","doi":"10.1177/03008916241301368","DOIUrl":"https://doi.org/10.1177/03008916241301368","url":null,"abstract":"<p><strong>Introduction: </strong>Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.</p><p><strong>Case description: </strong>Here we report a unique case of early onset, bifocal, non-Triple Negative breast cancer in a 31-year-old woman. Fast metastatic dissemination involving the brain caused the death of the patient in a few months. Her multigene panel testing showed the co-occurrence of pathogenic variants in <i>PALB2</i> (c.1221del; p.Thr408fs*40), <i>ATM</i> (c.8545C>T; p.Arg2849*), <i>PMS2</i> (c.1919C>A; p.Ser640*), and <i>MUTYH</i> (c.1103G>A; p.Gly368Asp). The patient inherited the <i>ATM</i> and <i>MUTYH</i> variants from the mother, and <i>PALB2</i> and <i>PMS2</i> variants from the father. The brother inherited the maternal <i>ATM</i> and paternal <i>PMS2</i> variants. A baseline imaging-based family screening excluded malignancies in both parents and in the brother. Tailored monitoring is ongoing based on the risk predicted by pathogenic variants identified in family members.</p><p><strong>Conclusions: </strong>Currently, there are no predictive tools available to determine organ-specific cancer risk in MINAS patients. Given the uncertainty in predicting the phenotypic effect of multiple variants in CSGs, ongoing clinical surveillance and sharing data from complex cases are crucial for improving risk stratification in this condition.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241301368"},"PeriodicalIF":2.0,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814188","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":"Is tumour sequencing effective for the identification of germline <i>BRCA1/2</i> pathogenic variant carriers?","authors":"Jacopo Azzollini, Iolanda Capone, Matteo Duca, Andrea Vingiani, Alberta Piccolo, Luca Agnelli, Elena Tamborini, Federica Perrone, Bernard Peissel, Daniele Lorenzini, Silvia Damian, Claudio Vernieri, Giulia Valeria Bianchi, Mara Mantiero, Monika Ducceschi, Maggie Polignano, Monica Niger, Federico Nichetti, Claudia Proto, Marta Brambilla, Elena Colombo, Marco Stellato, Elena Conca, Adele Busico, Siranoush Manoukian","doi":"10.1177/03008916241280127","DOIUrl":"10.1177/03008916241280127","url":null,"abstract":"<p><strong>Introduction: </strong>Tumour <i>BRCA1</i>/2 sequencing has progressively increased along with the expanding indications for poly(ADP-ribose) polymerase inhibitors. In our study, we investigated the feasibility and outcomes of a workflow for the identification of germline carriers based on tumour sequencing results.</p><p><strong>Methods: </strong>Between April 2020 and December 2022, <i>BRCA1/2</i> tumour testing results from 2020 patients were reviewed. Analysed tumours included: 323 ovarian, 104 breast, 314 pancreas-biliary, 87 prostate, 374 gastrointestinal, 309 lung, and 509 less common histologies. Testing was performed through small (only <i>BRCA1/2</i>, 16%) or comprehensive (>50 genes) next-generation sequencing panels (84%). Patients with pathogenic/likely pathogenic variants were referred for genetic counselling and germline testing.</p><p><strong>Results: </strong>Tumour <i>BRCA1/2</i> pathogenic variants were identified in 145 patients (7%). The pathogenic variant frequency ranged between 23% (75/323 ovarian) and 3.5% (11/314 pancreas-biliary). The highest frequency was observed in high-grade ovarian carcinomas (27%, 64/235). By 30 June 2023, 79 out of 145 patients (54%) underwent subsequent genetic counselling and germline testing. In these patients, mostly affected with ovarian carcinoma (67%, 53/79), 48 were confirmed germline pathogenic variants (61%).</p><p><strong>Conclusions: </strong>In our tumour-to-germline testing approach, we observed the <i>BRCA1/2</i> pathogenic variant frequency reported in other large unselected ovarian cancer cohorts, thus confirming its effectiveness in identifying putative germline carriers irrespective of eligibility for germline testing. As the range of tumours subjected to genetic testing broadens, this approach is expected to also be effective in other tumour settings for enhancing the identification of carriers, reducing the burden on genetic services, and avoiding unnecessary concerns related to germline testing.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241280127"},"PeriodicalIF":2.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296471","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}