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In Memoriam: Steffen Bülow (1943–2023)
In Memoriam: Steffen Bülow (1943–2023)
Last week, we received the sad news that Steffen Bülow had passed away at December 2...
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence
MSH6-proficient crypt foci in MSH6 constitutional mismatch repair deficiency: reversion of a frameshifted coding microsatellite to its wild-type sequence
The discovery of “mismatch repair deficient (MMRd)-crypt foci” in non-neoplastic intestinal mucosa in Lynch sy...
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...
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Preventi...
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions
A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions
Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in beni...
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
Serrated Polyposis Syndrome (SPS) is characterized by multiple and/or large serrated polyps in the colon and an increased ...
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic vari...
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis
Risk reduction salpingo-oophorectomy (RRSO) is usually performed in women with hereditary breast and ovarian cancer (HBOC)...
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland
Colorectal cancer (CRC) is a common cancer in Ireland. Of all CRCs, 2–4% are attributable to Lynch Syndrome (LS), th...
The genetic landscape of Lynch syndrome in the Israeli population
The genetic landscape of Lynch syndrome in the Israeli population
Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the ...
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
Despite its clinical value, cascade genetic testing (CGT) in hereditary cancer syndromes remains underutilized for a numbe...
Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression
Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by endocrine tumors, typically fro...
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 ...
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...
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...
In memoriam: Gloria Petersen, PhD (1950-2023)
In memoriam: Gloria Petersen, PhD (1950-2023)
On January 8, 2023, Gloria Petersen passed away at the age of 72. Gloria was a major ...
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...
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...
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...
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome
Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline pathogenic/likely pathogenic varia...
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1
Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1
To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 p...
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...
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...
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 ...
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...
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...
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...
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...
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