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The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants
The best linear unbiased prediction (BLUP) method as a tool to estimate the lifetime risk of pancreatic ductal adenocarcinoma in high-risk individuals with no known pathogenic germline variants
Pancreatic ductal adenocarcinoma (PDAC) is the fourth leading cause of cancer-related death in the Western world. The numb...
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreat...
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer
Review of the cost-effectiveness of surveillance for hereditary pancreatic cancer
Individuals with hereditary pancreatic cancer risk include high risk individuals (HRIs) with germline genetic susceptibili...
Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population?
Can our experience with surveillance for inherited pancreatic cancer help to identify early pancreatic cancer in the general population?
Screening of the general population for cancer is a matter of primary prevention reducing the burden of disease. Whilst th...
Precursor lesions in familial and hereditary pancreatic cancer
Precursor lesions in familial and hereditary pancreatic cancer
Infiltrating ductal adenocarcinoma of the pancreas, referred to here as “pancreatic cancer,” is one of the dea...
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
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
Screening programs for early detection and treatment of pancreatic cancer (PC) and its precursor lesions are increasingly ...
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up
Complications of colonoscopy surveillance of patients with Lynch syndrome – 33 years of follow up
Background and study aims: Lynch syndrome (LS) is a hereditary autosomal dominant condition, with an increased lifetime ri...
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women
Orthodox Jewish women face unique social, cultural, and religious factors that may influence uptake of BRCA1/2 genetic tes...
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers...
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer
Aspects and outcomes of surveillance for individuals at high-risk of pancreatic cancer
Pancreatic ductal adenocarcinoma (PDAC) is a leading cause of cancer-related deaths and is associated with a poor prognosi...
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier
The odyssee from surveillance to the detection of pancreatic cancer, total pancreatectomy, and its impact on life. insights from a p16-Leiden pathogenic variant carrier
I will begin my story in March 2001. That’s when pancreatic cancer was diagnosed in m...
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review
Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome f...
Surgical aspects related to hereditary pancreatic cancer
Surgical aspects related to hereditary pancreatic cancer
The goal of surveillance programs for individuals at risk (IAR) from familial pancreatic cancer (FPC) families or families...
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
Hereditary Cancer makes up around 5–10% of all cancers. It is important to diagnose hereditary cancer in a timely fa...
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study
Impact of hormonal contraception on endometrial histology in patients with Lynch syndrome, a retrospective pilot study
Hormonal contraception (HC) is a well-recognized protection against endometrial cancer (EC) in the general population. It ...
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family
Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic ...
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individua...
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review
The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review
A 73-year-old Japanese man with a history of distal biliary cancer treated by pancreatoduodenectomy developed pancreatic a...
Familial and hereditary pancreatic cancer in Japan
Familial and hereditary pancreatic cancer in Japan
As in Western countries, familial pancreatic cancer accounts for 5–7% of pancreatic cancer (PC) in Japan. Opportunit...
Expanding access to genetic testing for pancreatic cancer
Expanding access to genetic testing for pancreatic cancer
Among individuals with pancreatic ductal adenocarcinoma (PDAC) 5–10% have a pathogenic germline variant (PGV) in a P...
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions
Screening for pancreatic cancer in high-risk individuals using MRI: optimization of scan techniques to detect small lesions
Pancreatic cancer has a dismal prognosis in the general population. However, early detection and treatment of disease in h...
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent
TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we ...
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Ca...
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Healthy carriers of BRCA1/2 pathogenic variants (PVs) may benefit from risk-reducing measures of proven efficacy. The main...
Functional and phenotypic consequences of an unusual inversion in MSH2
Functional and phenotypic consequences of an unusual inversion in MSH2
Lynch syndrome is an autosomal dominant disorder that usually results from a pathogenic germline variant in one of four ge...
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Balancing the burden and benefits of colonoscopy in Lynch Syndrome
Van Liere ELSA, Jacobs IL, Dekker E, Jacobs MAJM, de Boer NKH, Ramsoekh D (2023) Colonoscopy surveillance in Lynch syndrom...
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
PREMM5 distinguishes sporadic from Lynch syndrome-associated MMR-deficient/MSI-high colorectal cancer
Current algorithms for diagnosing Lynch syndrome (LS) include multistep molecular tumor tests to distinguish LS-associated...
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Pathogenic germline variants (PGVs) in the CDH1 gene are associated with diffuse gastric and lobular breast cancer syndrom...
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
In Vietnam, colorectal cancer is one of the top diagnosed cancers, with 5–10% originating from inherited mutations. ...
Germline whole genome sequencing in adults with multiple primary tumors
Germline whole genome sequencing in adults with multiple primary tumors
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic test...
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