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Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report
Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report
To the best of our knowledge, this is the first report of metastasized chromophobe RCC, after complete resection of a prim...
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...
Aberrant transcription caused by an intronic non-canonical CDH1 variant
Aberrant transcription caused by an intronic non-canonical CDH1 variant
Cite this articleBouras, A., Grand-Masson, C., Lefol, C. et al. Aberrant transcription caused by an intronic non-canonical...
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...
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutane...
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 ...
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...
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service
In the Emilia-Romagna region (Northern Italy), the identification and management of women at familial/hereditary risk of b...
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic
Hereditary cancer predisposition disorders account for up to 10% of all pediatric cancers. Genetic counseling for families...
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...
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies
Nephrotic syndrome is a common clinical presentation of glomerulopathy. A glomerulopathy as a paraneoplastic manifestation...
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam
Retinoblastoma (RB) is the most common intraocular malignancy in children, and patients with family history of retinoblast...
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort
Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome whereby the lifetime risk of develo...
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...
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