Familial Cancer最新文献_第7页

Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1 通过内镜筛查识别 CDH1 基因致病变异携带者的标志环细胞胃癌病灶

IF 2.2 4区医学

Familial Cancer Pub Date : 2024-09-11 DOI: 10.1007/s10689-024-00421-z

Lady Katherine Mejia Perez, Margaret O’Malley, Arjun Chatterjee, Ruishen Lyu, Qijun Yang, Michael W. Cruise, Lisa LaGuardia, David Liska, Carole Macaron, R. Matthew Walsh, Carol A. Burke

{"title":"Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1","authors":"Lady Katherine Mejia Perez, Margaret O’Malley, Arjun Chatterjee, Ruishen Lyu, Qijun Yang, Michael W. Cruise, Lisa LaGuardia, David Liska, Carole Macaron, R. Matthew Walsh, Carol A. Burke","doi":"10.1007/s10689-024-00421-z","DOIUrl":"https://doi.org/10.1007/s10689-024-00421-z","url":null,"abstract":"To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in CDH1 PV carriers with family history of DGC between 18 and 40 years. Annual EGD with biopsies according to established protocols is recommended in carriers with no SRC and no family history of DGC, with consideration of pTG. Retrospective analysis of asymptomatic patients with CDH1 PVs with ≥ 1 surveillance EGD. Outcomes included pre-operative EGD detection of SRC, surgical stage, and progression to advanced DGC in those electing surveillance with EGD. 48 patients with CDH1 PVs who had ≥ 1 EGD were included. 24/ 48 (50%) underwent gastrectomy, including pTG in 7 patients. SRCC were detected on gastrectomy specimen in 21/24 (87.5%). SRCs were identified by EGD in 17/21 patients who had SRCC on gastrectomy specimens (sensitivity 81%, 17/21). All cancers were stage pT1a. The remaining 17 patients (50% with a family history of gastric cancer) continue in annual EGD surveillance with a median follow-up of 34.6 months. No SRCC or advanced DGC have been diagnosed. No CDH1 PV carriers without SRCC on random biopsies followed in an endoscopic program developed advanced DGC over a median follow up of 3 years. In the short term, EGD surveillance might be a safe alternative to immediate pTG in experienced hands in referral centers.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":"87 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142176694","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 response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review. 一名生殖系 BRCA2 变异携带者的胰腺尖细胞癌对铂和奥拉帕尼治疗的反应：病例报告和文献综述。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI: 10.1007/s10689-024-00390-3

Hiroyuki Matsubayashi, Akiko Todaka, Takahiro Tsushima, Yoshimi Kiyozumi, Rina Harada, Eiko Ishihara, Satomi Higashigawa, Nobuyuki Ohike, Hiroki Sakamoto, Junya Sato, Hirotoshi Ishiwatari, Teichi Sugiura, Katsuhiko Uesaka

引用次数: 0

Familial pancreatic cancer: a long fruitful journey. 家族性胰腺癌：漫漫征途硕果累累。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-03-04 DOI: 10.1007/s10689-024-00364-5

Teresa A Brentnall

引用次数: 0

The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals. 意大利胰腺癌高危家庭登记处（IRFARPC）：高危人群胰腺癌监测国家计划的实施与发展。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-03-16 DOI: 10.1007/s10689-024-00366-3

Livia Archibugi, Fabio Casciani, Silvia Carrara, Erica Secchettin, Massimo Falconi, Gabriele Capurso, Salvatore Paiella

{"title":"The Italian registry of families at risk for pancreatic cancer (IRFARPC): implementation and evolution of a national program for pancreatic cancer surveillance in high-risk individuals.","authors":"Livia Archibugi, Fabio Casciani, Silvia Carrara, Erica Secchettin, Massimo Falconi, Gabriele Capurso, Salvatore Paiella","doi":"10.1007/s10689-024-00366-3","DOIUrl":"10.1007/s10689-024-00366-3","url":null,"abstract":"Screening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly implemented worldwide to reduce disease-specific lethality. Given the relatively low prevalence of the disease, the ideal target of such approaches is an enriched cohort of individuals harboring a lifetime risk of developing PC significantly higher compared to the general population, given either a substantial aggregation of PC cases in their family (i.e. familial pancreatic cancer) or a genomic landscape enriched with pathogenic variants associated with pancreatic carcinogenesis (i.e. mutation carriers). In Italy, a national registry for the census and surveillance of high-risk individuals for PC was launched in 2015, enrolling some 1200 subjects as of today. In this perspective, the scientific background, multi-level structure, and evolution of IRFARPC are outlined, as well as its long-term results, future developments, and areas for improvement.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"373-382"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140105","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

Twenty-five years of surveillance for familial and hereditary pancreatic ductal adenocarcinoma: Historical perspectives and introduction to the special issue. 家族性和遗传性胰腺导管腺癌监测二十五年：历史展望和特刊导言。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-06-06 DOI: 10.1007/s10689-024-00404-0

Hans Fa Vasen, Marcia Irene Canto, Michael Goggins

{"title":"Twenty-five years of surveillance for familial and hereditary pancreatic ductal adenocarcinoma: Historical perspectives and introduction to the special issue.","authors":"Hans Fa Vasen, Marcia Irene Canto, Michael Goggins","doi":"10.1007/s10689-024-00404-0","DOIUrl":"10.1007/s10689-024-00404-0","url":null,"abstract":"In the 1990s, as prevention became a central strategy in the battle against cancer and the molecular genetics revolution uncovered the genetic basis of numerous hereditary cancer syndromes, there were no options available for patients at increased risk of developing pancreatic cancer. When surveillance efforts for those at familial and hereditary risk of pancreatic cancer emerged in the late 1990s, it was uncertain if early detection was achievable.In this introduction to the special issue, we offer an overview of the history of surveillance for pancreatic cancer, including the first reports of familial pancreatic cancer in the medical literature, the initial results of surveillance in the United States and the initiation of surveillance programs for hereditary pancreatic cancer in the Netherlands.This special issue features a collection of 18 articles written by prominent experts in the field, focusing specifically on refining surveillance methodologies with the primary objective of improving care of high-risk individuals. Several reviews in this collection highlight improved survival rates associated with pancreas surveillance, underlying the potential of early detection and improved management in the continuing fight against pancreatic cancer.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"209-215"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141283412","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

Familial and hereditary pancreatic cancer in Japan. 日本的家族性和遗传性胰腺癌。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI: 10.1007/s10689-024-00395-y

Hiroyuki Matsubayashi, Chigusa Morizane

{"title":"Familial and hereditary pancreatic cancer in Japan.","authors":"Hiroyuki Matsubayashi, Chigusa Morizane","doi":"10.1007/s10689-024-00395-y","DOIUrl":"10.1007/s10689-024-00395-y","url":null,"abstract":"As in Western countries, familial pancreatic cancer accounts for 5-7% of pancreatic cancer (PC) in Japan. Opportunities for diagnosing hereditary pancreatic cancer (HPC) are increasing owing to the coverage of companion diagnostics and cancer genomic profiling by national health insurance in patients with unresectable or recurrent PC refractory to standard chemotherapies. HPC is recognized in 7% of PCs and 15% of familial pancreatic cancer, including germline variants of BRCA1/2, ATM, PALB2, APC, and mismatch repair genes. Individuals with 5-fold or greater inherited risks of PC are recommended to undergo pancreatic surveillance according to Japanese guidelines. The imaging modalities for this surveillance include endoscopic ultrasound, magnetic resonance cholangiopancreatography, abdominal ultrasound, and enhanced computed tomography. Currently, a nationwide prospective surveillance study is ongoing in Japan. Platinum-based chemotherapy is an effective pancreatic cancer treatment in patients with variants of homologous recombination repair genes (BRCA1/2 and PALB2); however, the use of platinum regimens solely based on familial/personal cancer history remains controversial. The efficacy of olaparib maintenance therapy, as confirmed by the POLO study, has significantly impacted the clinical treatment of advanced PC patients in Japan. Since the initiation of precision cancer medicine in 2019, genetic medicine for PC patients has expanded in Japan.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"365-372"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140908263","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

Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant. 种系 CDKN2A 致病变异家庭对基因检测、计划生育和植入前基因检测的态度。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-06-01 DOI: 10.1007/s10689-024-00401-3

A M Onnekink, D C F Klatte, J E van Hooft, S H van den Berg, S M S van der Zwaan, R van Doorn, S C H Hinnen, T P Potjer, E M A Bleiker, M E van Leerdam

{"title":"Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant.","authors":"A M Onnekink, D C F Klatte, J E van Hooft, S H van den Berg, S M S van der Zwaan, R van Doorn, S C H Hinnen, T P Potjer, E M A Bleiker, M E van Leerdam","doi":"10.1007/s10689-024-00401-3","DOIUrl":"10.1007/s10689-024-00401-3","url":null,"abstract":"Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreatic cancer. This cross-sectional study assessed the attitudes among toward genetic testing, family planning, and preimplantation genetic testing (PGT) in confirmed CDKN2A PV carriers and individuals with a 50% risk of the PV (at-risk carriers) using of a one-time questionnaire.A total of 537 individuals were screened for eligibility, of whom 208 of 366 (57%) confirmed carriers (56% female, median age 54 years [IQR 46-63]) and 39 of 171 (23%) at-risk carriers (59% female, median age of 26 years [IQR 22-32]) participated in the study. Primary motivations for genetic testing were to gain control over their personal and children's cancer risk, as well as increasing cancer surveillance practices. In contrast, concerns about obtaining a mortgage and life insurance were frequently cited as reasons for postponing genetic testing. Family planning decisions remained largely unaffected in both confirmed and at-risk carriers; however, the majority of confirmed carriers were still unaware of their familial or personal cancer risk when starting a family. More than 60% of the participants were unfamiliar with PGT and only a minority (19% of confirmed carriers and 10% of at-risk carriers) would be open to considering PGT as a reproductive option. This study found different attitudes toward genetic testing, family planning, and PGT among individuals affected by the CDKN2A PV. Understanding these different attitudes can help clinicians to address the complexities surrounding these issues, especially for younger individuals facing difficult decisions about the timing of genetic testing, family planning, and the potential use of assisted reproductive options.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"255-265"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141186326","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

Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions. 利用磁共振成像筛查高危人群中的胰腺癌：优化扫描技术以检测微小病灶。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI: 10.1007/s10689-024-00394-z

Bas Boekestijn, Shirin Feshtali, Hans Vasen, Monique E van Leerdam, Bert A Bonsing, J Sven D Mieog, Martin N Wasser

{"title":"Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions.","authors":"Bas Boekestijn, Shirin Feshtali, Hans Vasen, Monique E van Leerdam, Bert A Bonsing, J Sven D Mieog, Martin N Wasser","doi":"10.1007/s10689-024-00394-z","DOIUrl":"10.1007/s10689-024-00394-z","url":null,"abstract":"Pancreatic cancer has a dismal prognosis in the general population. However, early detection and treatment of disease in high-risk individuals can improve survival, as patients with localized disease and especially patients with lesions smaller than 10 mm show greatly improved 5-year survival rates. To achieve early detection through MRI surveillance programs, optimization of imaging is required. Advances in MRI technologies in both hardware and software over the years have enabled reliable detection of pancreatic cancer at a small size and early stage. Standardization of dedicated imaging protocols for the pancreas are still lacking. In this review we discuss state of the art scan techniques, sequences, reduction of artifacts and imaging strategies that enable early detection of lesions. Furthermore, we present the imaging features of small pancreatic cancers from a large cohort of high-risk individuals. Refinement of MRI techniques, increased scan quality and the use of artificial intelligence may further improve early detection and the prognosis of pancreatic cancer in a screening setting.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"295-308"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11254973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140908316","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

Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer. 遗传性胰腺癌监测成本效益回顾。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-05-25 DOI: 10.1007/s10689-024-00392-1

Louise Wang, Rachel Levinson, Catherine Mezzacappa, Bryson W Katona

{"title":"Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer.","authors":"Louise Wang, Rachel Levinson, Catherine Mezzacappa, Bryson W Katona","doi":"10.1007/s10689-024-00392-1","DOIUrl":"10.1007/s10689-024-00392-1","url":null,"abstract":"Individuals with hereditary pancreatic cancer risk include high risk individuals (HRIs) with germline genetic susceptibility to pancreatic cancer (PC) and/or a strong family history of PC. Previously, studies have shown that PC surveillance in HRIs can downstage PC diagnosis and extend survival leading to pancreatic surveillance being recommended for certain HRIs. However, the optimal surveillance strategy remains uncertain, including which modalities should be used for surveillance, how frequently should surveillance be performed, and which sub-groups of HRIs should undergo surveillance. Additionally, in the ideal world PC surveillance should also be cost-effective. Cost-effectiveness analysis is a valuable tool that can consider the costs, potential health benefits, and risks among various PC surveillance strategies. In this review, we summarize the cost-effectiveness of various PC surveillance strategies for HRIs for hereditary pancreatic cancer and provide potential avenues for future work in this field. Additionally, we include cost-effectiveness studies among individuals with new-onset diabetes (NoD), a high-risk group for sporadic PC, as a comparison.","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"351-360"},"PeriodicalIF":1.8,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11255025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141096845","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

Precursor lesions in familial and hereditary pancreatic cancer. 家族性和遗传性胰腺癌的前驱病变。

IF 1.8 4区医学

Familial Cancer Pub Date : 2024-08-01 Epub Date: 2024-02-06 DOI: 10.1007/s10689-024-00359-2

Michael J Pflüger, Lodewijk A A Brosens, Ralph H Hruban

引用次数: 0