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Self-perceived attitudes of Italian oncology nurses towards clinical trial involvement: A cohort observational study. 意大利肿瘤科护士对参与临床试验的自我认知态度:一项队列观察研究。
IF 2 4区 医学
Tumori Pub Date : 2024-12-01 Epub Date: 2024-10-27 DOI: 10.1177/03008916241290736
Elsa Vitale, Roberto Lupo, Luana Conte, Rocco Mea, Ivan Rubbi, Serena Iacovelli, Giorgio De Nunzio, Raffaella Massafra
{"title":"Self-perceived attitudes of Italian oncology nurses towards clinical trial involvement: A cohort observational study.","authors":"Elsa Vitale, Roberto Lupo, Luana Conte, Rocco Mea, Ivan Rubbi, Serena Iacovelli, Giorgio De Nunzio, Raffaella Massafra","doi":"10.1177/03008916241290736","DOIUrl":"10.1177/03008916241290736","url":null,"abstract":"<p><strong>Background: </strong>Literature is lacking when it comes to oncology nursing attitudes in clinical trial involvement.</p><p><strong>Objective: </strong>To assess how Italian oncology nurses perceived their attitudes in clinical trials involvement.</p><p><strong>Methods: </strong>An on-line cohort observational study was carried out. Data collected included: sex, years of work experience in oncology field and 10 items assessing participants' self-perceptions of their attitudes in clinical trials. Linear regression was used to assess associations between work experience and self-perceived preparedness.</p><p><strong>Results: </strong>A total of 338 Italian oncology nurses were enrolled. Most nurses declared not receiving any specific training in oncology clinical trials (23.1%). No significant associations were reported between self- perceived attitudes in clinical trial involvement in the oncology setting and both work experience and clinical trial involvement.</p><p><strong>Conclusions: </strong>Cancer centers are improving cancer nursing research in supplying clinical care. But very few centers are involved in training oncology nurses. This gap seems to be very deep in taking into consideration the oncology nursing research in clinical trials, too.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"443-450"},"PeriodicalIF":2.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11571600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508780","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}
引用次数: 0
Light and shade of multigene panel testing for hereditary cancer: Examples from the real world. 遗传性癌症多基因面板检测的明暗:现实世界中的实例。
IF 2 4区 医学
Tumori Pub Date : 2024-11-21 DOI: 10.1177/03008916241288078
Giovanni Innella, Simona Ferrari, Sara Miccoli, Daniela Turchetti
{"title":"Light and shade of multigene panel testing for hereditary cancer: Examples from the real world.","authors":"Giovanni Innella, Simona Ferrari, Sara Miccoli, Daniela Turchetti","doi":"10.1177/03008916241288078","DOIUrl":"https://doi.org/10.1177/03008916241288078","url":null,"abstract":"<p><strong>Background: </strong>MultiGene Panel Testing (MGPT) allows for simultaneous analysis of multiple cancer-related genes, enabling the identification of pathogenic variants in genes beyond those that would be analyzed based on a specific phenotype. However, a relevant fraction of variants so identified has little or no clinical utility, raising the need for guidance in selecting genes to include in panels and for interpretation of the results.</p><p><strong>Methods: </strong>Taking advantage of seven real paradigmatic cases, we analyze some of the scenarios where MGPT constitutes a meaningful advantage for diagnosis, as well as situations where panel use increases the risk of misinterpretation or complicates result communication and management.</p><p><strong>Results: </strong>The use of MGPT facilitates prompt diagnosis in carriers of variants in rare genes (such as <i>NTHL1</i>), which would be diagnosed at a later stage if using a step-wise approach, as well as in carriers of bi-allelic variants (for instance in <i>BRCA</i> or MMR genes) leading to atypical phenotypes. Conversely, finding variants in moderate penetrance genes, such as <i>ATM</i> and <i>CHEK2</i>, may complicate interpretation and clinical management. Furthermore, for some of the genes included in MGPT, for instance <i>NBN</i>, the association with cancer risk has been questioned, leading to potentially misleading results.</p><p><strong>Conclusion: </strong>Taken together, the cases here described provide some examples of the benefits, as well as risks, involved by the use of MGPT, which may increase awareness among users and reinforce the need for establishing clear recommendations on genes to be included and management of the results.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241288078"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682729","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}
引用次数: 0
Chemoprevention strategies in hereditary breast and ovarian cancer syndromes. 遗传性乳腺癌和卵巢癌综合征的化学预防策略。
IF 2 4区 医学
Tumori Pub Date : 2024-11-21 DOI: 10.1177/03008916241274721
Elena Barbieri, Marta Venturelli, Luciana Mastrodomenico, Claudia Piombino, Ornella Ponzoni, Silvia Zaniboni, Serena Barban, Elisabetta Razzaboni, Giovanni Grandi, Massimo Dominici, Laura Cortesi, Angela Toss
{"title":"Chemoprevention strategies in hereditary breast and ovarian cancer syndromes.","authors":"Elena Barbieri, Marta Venturelli, Luciana Mastrodomenico, Claudia Piombino, Ornella Ponzoni, Silvia Zaniboni, Serena Barban, Elisabetta Razzaboni, Giovanni Grandi, Massimo Dominici, Laura Cortesi, Angela Toss","doi":"10.1177/03008916241274721","DOIUrl":"https://doi.org/10.1177/03008916241274721","url":null,"abstract":"<p><p>Hereditary breast and/or ovarian cancer syndromes are inherited disorders in which there is an increased risk of developing breast and/or ovarian cancer in the lifetime, usually at a younger age compared to the general population. Cancer prevention in these syndromes includes prophylactic surgeries, personalized surveillance programs and chemopreventive strategies. Chemoprevention exploits the use of certain drugs or other substances to help lower the risk of developing cancer. In this context, tamoxifen was the first agent considered for breast cancer prevention, followed by raloxifene and the third-generation aromatase inhibitors. On the other hand, the first and most widespread type of chemoprevention for ovarian cancer was combined hormonal contraceptive use. Although several strategies have been studied and showed promising results, only a few of these are currently applied in daily clinical practice. Side effects along with several psychological variables such as cancer perceived risk, worries and related distress, strongly influence women's decision on chemoprevention. The present review explores and summarizes the available evidence on breast and ovarian cancer chemoprevention approaches.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241274721"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682814","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}
引用次数: 0
The role of diet as adjuvant treatment in FAP patients. 饮食作为 FAP 患者辅助治疗的作用。
IF 2 4区 医学
Tumori Pub Date : 2024-11-21 DOI: 10.1177/03008916241287719
Patrizia Pasanisi, Giada Sassi, Andreina Oliverio, Eleonora Bruno, Sara Lauricella, Clorinda Brignola, Marco Vitellaro
{"title":"The role of diet as adjuvant treatment in FAP patients.","authors":"Patrizia Pasanisi, Giada Sassi, Andreina Oliverio, Eleonora Bruno, Sara Lauricella, Clorinda Brignola, Marco Vitellaro","doi":"10.1177/03008916241287719","DOIUrl":"https://doi.org/10.1177/03008916241287719","url":null,"abstract":"<p><strong>Background: </strong>The management of individuals with familial adenomatous polyposis (FAP) includes invasive prophylactic surgery and intensive endoscopic surveillance to reduce their risk of colorectal cancer. FAP patients frequently ask for dietary recommendations to alleviate bowel disturbances after prophylactic colectomy, and to prevent the formation and growth of new adenomas. We have enriched the multidisciplinary outpatient clinic for FAP with nutritional support. This paper presents the results of the first six months of this nutritional activity.</p><p><strong>Methods: </strong>Sixty-eight individuals with FAP, >18 years of age, who underwent a prophylactic total colectomy, entered in this observational study. At the baseline visit, participants underwent anthropometric measurements, answered the Mediterranean Diet Adherence Screener (MEDAS), the Faecal Incontinence Quality of Life (FIQL) questionnaire, and reported the number of their diarrhoeal discharges per day. They received dietary recommendations including specific information about the inflammatory food to reduce (red/processed meat, sugar, sweets), and the Mediterranean food to increase (vegetables, fruits, whole grain cereal in cream and legumes' hummus).</p><p><strong>Results: </strong>After six months, participants repeated the same baseline measurements. Fifty-three individuals with FAP completed the six-month follow-up. The before-after analysis showed significant improvements in patients' body composition measurements and MEDAS score. Participants significantly reduced the number of diarrhoeal discharges per day. FIQL results showed improvements in lifestyle, behaviour, and depression scores.</p><p><strong>Conclusions: </strong>These results suggest that targeted low-inflammatory Mediterranean dietary recommendations are effective in improving anthropometric parameters, diet quality, and various aspects of quality of life related to bowel function in individuals with FAP.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241287719"},"PeriodicalIF":2.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682892","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}
引用次数: 0
Time trends of cancer incidence in young adults (20-49 years) in Italy. A population - based study, 2008-2017. 意大利年轻成年人(20-49 岁)癌症发病率的时间趋势。一项基于人口的研究,2008-2017 年。
IF 2 4区 医学
Tumori Pub Date : 2024-11-15 DOI: 10.1177/03008916241297078
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
{"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":"https://doi.org/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":"3008916241297078"},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","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}
引用次数: 0
The challenges of cascade genetic testing in hereditary cancer syndromes: A few ethical considerations. 遗传性癌症综合征的级联基因检测所面临的挑战:一些伦理方面的考虑。
IF 2 4区 医学
Tumori Pub Date : 2024-11-13 DOI: 10.1177/03008916241297782
Linda Battistuzzi
{"title":"The challenges of cascade genetic testing in hereditary cancer syndromes: A few ethical considerations.","authors":"Linda Battistuzzi","doi":"10.1177/03008916241297782","DOIUrl":"https://doi.org/10.1177/03008916241297782","url":null,"abstract":"<p><p>Progress in the discovery and understanding of cancer susceptibility genes and ever-cheaper genomic technologies are generating precious opportunities to optimize the identification of individuals with a hereditary cancer predisposition.Any such effort will have a more significant impact if it prioritizes those most at risk of developing cancer. This premise is central to cascade genetic testing, in which healthcare professionals encourage cancer patients carrying a predisposing gene variant to discuss the implications of their test results with their at-risk relatives so that, ideally, all the at-risk individuals in that family have the option to seek genetic counseling and testing in turn. Among the relatives found to have the gene variant, those who have developed cancer can then access targeted treatment and follow-up, those who are asymptomatic can benefit from enhanced preventive measures, while those who test negative can avoid unnecessary, costly, and time-consuming screening.Despite its life-saving potential, cascade genetic testing in hereditary cancer syndromes is often reported to have disappointing uptake rates, particularly among historically disadvantaged and underrepresented communities, for reasons that include barriers in intrafamilial genetic risk communication and low health and genetic literacy.This paper will discuss the challenges of cascade genetic testing in hereditary cancer syndromes, addressing some of the ethical questions arising from its current model, from strategies aimed at improving its uptake, as well as from alternative approaches to identifying asymptomatic individuals who may carry a cancer- associated pathogenic variant.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241297782"},"PeriodicalIF":2.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628854","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}
引用次数: 0
KRAS inhibitors in drug resistance and potential for combination therapy. KRAS 抑制剂的耐药性和联合疗法的潜力。
IF 2 4区 医学
Tumori Pub Date : 2024-11-06 DOI: 10.1177/03008916241289206
Lala S Rathod, Nikhil S Sakle, Santosh N Mokale
{"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<sup>G12C</sup> inhibitors (sotorasib and adagrasib) for metastatic lung cancer treatment. However, clinical studies on covalent KRAS<sup>G12C</sup> 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<sup>G12D</sup> and KRAS<sup>G12V</sup> are more common than KRAS<sup>G12C</sup>, 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<sup>G12C</sup> inhibitors.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241289206"},"PeriodicalIF":2.0,"publicationDate":"2024-11-06","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}
引用次数: 0
Effect of anti-inflammatory molecules from food on organoids derived from adenomatous polyps of FAP subjects. 食物中的抗炎分子对来自 FAP 患者腺瘤息肉的有机体的影响
IF 2 4区 医学
Tumori Pub Date : 2024-10-27 DOI: 10.1177/03008916241291301
Oscar Illescas, Antonino Belfiore, Luca Varinelli, Davide Battistessa, Susanna Zanutto, Clorinda Brignola, Francesco Segrado, Irene Cafferati, Maria Teresa Ricci, Giovanna Sabella, Massimo Milione, Vito Ladisa, Stefano Signoroni, Marco Vitellaro, Patrizia Pasanisi, Manuela Gariboldi
{"title":"Effect of anti-inflammatory molecules from food on organoids derived from adenomatous polyps of FAP subjects.","authors":"Oscar Illescas, Antonino Belfiore, Luca Varinelli, Davide Battistessa, Susanna Zanutto, Clorinda Brignola, Francesco Segrado, Irene Cafferati, Maria Teresa Ricci, Giovanna Sabella, Massimo Milione, Vito Ladisa, Stefano Signoroni, Marco Vitellaro, Patrizia Pasanisi, Manuela Gariboldi","doi":"10.1177/03008916241291301","DOIUrl":"https://doi.org/10.1177/03008916241291301","url":null,"abstract":"<p><strong>Introduction: </strong>Individuals with Familial Adenomatous Polyposis (FAP) or <i>APC</i>-associated polyposis, an autosomal dominant inherited condition, develop multiple adenomatous polyps and have an increased colorectal cancer (CRC) risk. A change in diet can help reduce cancer risk, and several dietary components have an antitumor effect. We aimed to evaluate the potential of the anti-inflammatory and anticancer substances quercetin (QER), epigallocatechin gallate (EGG) and fisetin (FIS) in decreasing the risk of CRC by reducing the growth of polyps in an organoid model.</p><p><strong>Methods: </strong>Patient-derived organoid (PDO) lines were generated from polyps obtained from patients with FAP undergoing prophylactic colectomy. PDOs were treated with QER, EGG, or FIS to determine their effect on cell growth. Changes in caspase 3/7 activity and expression of inflammation and apoptosis mediators were assessed by luminescent and colorimetric assays.</p><p><strong>Results: </strong>Three PDO lines with different inactivating pathogenic variants in the <i>APC</i> gene were developed using a combinatorial approach. FIS was the most active of the three substances tested, presenting the lowest IC50 in all PDO lines (range: 42.6-9.2 uM). The IC50 was defined as the concentration required to halve the number of cells after 72 hours. All molecules tested induced apoptosis through activation of caspases 3/7.</p><p><strong>Conclusions: </strong>QER, EGG, and FIS can be easily taken from foods or dietary supplements, show toxicity on PDOs derived from adenomatous polyps, while they are known to be harmless on normal cells. Diets enriched with these substances could be potential supplemental treatments to reduce the risk of CRC in individuals with FAP.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241291301"},"PeriodicalIF":2.0,"publicationDate":"2024-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508866","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}
引用次数: 0
PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience. 乳腺癌诊断过程中的 PALB2 分析:意大利单中心经验
IF 2 4区 医学
Tumori Pub Date : 2024-10-24 DOI: 10.1177/03008916241290738
Maria Grazia Tibiletti, Ileana Carnevali, Sofia Facchi, Laura Libera, Corrado Chiappa, Fausto Sessa, Stefano La Rosa, Francesca Rovera
{"title":"<i>PALB2</i> analysis in the diagnostic process of breast cancer: An Italian monocentric experience.","authors":"Maria Grazia Tibiletti, Ileana Carnevali, Sofia Facchi, Laura Libera, Corrado Chiappa, Fausto Sessa, Stefano La Rosa, Francesca Rovera","doi":"10.1177/03008916241290738","DOIUrl":"https://doi.org/10.1177/03008916241290738","url":null,"abstract":"<p><strong>Background: </strong>The clinical utility of germline <i>BRCA1</i> and <i>BRCA2</i> testing is well established in patients with family history suggestive for hereditary breast and ovarian cancer syndrome. Recently, germline <i>PALB2</i> pathogenic variants were also associated with an increased risk of breast and other cancers and, in the Italian population, it has been described in few studies without a systematic germline analysis of <i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i>.</p><p><strong>Objectives and methods: </strong>In this study, we described ASST Sette Laghi cancer genetic counselling services' experience in the analysis of 402 patients with suspected breast and ovarian cancer syndrome, by using <i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i> germline genetic test.</p><p><strong>Results: </strong>The frequency of <i>PALB2</i> pathogenic variants was 1.2% compared to 3.5% and 3.2% for <i>BRCA1</i> and <i>BRCA2</i>, respectively, whereas class 3 variants were detected in 0.3% and 0.5% of the <i>BRCA1</i> and <i>BRCA2</i> investigated patients, respectively. <i>PALB2</i> pathogenic variants were identified in patients with a strong family history for breast cancer. Moreover, <i>PALB2</i> variants were significantly associated with a younger age of breast cancer onset (mean age, 40.25 years) compared to <i>wild-type</i> patients (mean age 51.2 years, p-value = 0.0331). Similar to <i>BRCA</i>-associated breast cancer, the majority of <i>PALB2</i> breast cancers were identified at an advanced clinical stage. Pedigree analysis revealed a family history of breast and ovarian cancer syndrome in all <i>PALB2</i> pathogenic variants carriers (early breast cancer onset, bilateral breast cancer and ovarian cancer).</p><p><strong>Conclusion: </strong>In conclusion, the germline analysis of <i>BRCA1, BRCA2</i> and <i>PALB2</i> should be included in breast cancer clinical practice as a not negligible number of <i>PALB2</i> carriers could be identified and referred to specific surveillance protocols.</p>","PeriodicalId":23349,"journal":{"name":"Tumori","volume":" ","pages":"3008916241290738"},"PeriodicalIF":2.0,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508865","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}
引用次数: 0
Personalized treatment using predictive biomarkers in solid organ malignancies: A review. 在实体器官恶性肿瘤中使用预测性生物标记物进行个性化治疗:综述。
IF 2 4区 医学
Tumori Pub Date : 2024-10-01 Epub Date: 2024-08-02 DOI: 10.1177/03008916241261484
Haoming Tang, Yi Xin Li, Jun Jie Lian, Hsin-Yueh Ng, Samuel Sherng Young Wang
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