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Genetics, genomics and clinical features of adenomatous polyposis
Genetics, genomics and clinical features of adenomatous polyposis
Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gas...
A review of somatic mosaicism and specific variants - I1307K and promotor variants
A review of somatic mosaicism and specific variants - I1307K and promotor variants
In the majority of patients with a classical Familial Adenomatous Polyposis (FAP) a pathogenic APC germline variant is ide...
The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey
The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey
Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveill...
Intestinal transplantation in Familial Adenomatous Polyposis
Intestinal transplantation in Familial Adenomatous Polyposis
In patients with Familial Adenomatous Polyposis (FAP), large desmoid tumors can develop all over the body. However, the mo...
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?
Interpreting variants of uncertain significance (VUS) in mismatch repair (MMR) genes remains a major challenge in managing...
Evaluation of testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data
Evaluation of testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data
Identification of somatic and germline BRCA1/2 pathogenic variants in epithelial ovarian cancer (EOC) patients is essentia...
Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment
Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment
Colorectal cancer can be prevented in most patients with FAP by performing (procto)colectomy and lifelong endoscopic surve...
Pancreatic adenocarcinoma in a patient with a germline pathogenic variant
Pancreatic adenocarcinoma in a patient with a germline pathogenic variant
Germline pathogenic variants (GPVs) in RB1 are associated with the pediatric-onset intra-ocular malignancy retinoblastoma ...
Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing copy number variants
Screening of biobank SNP-array genotyping data to detect Lynch syndrome predisposing copy number variants
Efficient use of genetic biobank data in support of clinical care would enhance the adoption of personalized medicine. Ide...
Strategic Plan of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC): A practical roadmap to move the hereditary gastrointestinal cancer field forward
Strategic Plan of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC): A practical roadmap to move the hereditary gastrointestinal cancer field forward
The Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC) is an organization of healthcare pr...
Redefining familial adenomatous polyposis: competition, cooperation, and the path to monoclonality
Redefining familial adenomatous polyposis: competition, cooperation, and the path to monoclonality
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome characterized by germline mutations in the APC gene t...
Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies
Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies
Familial adenomatous polyposis (FAP) is a hereditary disorder caused by constitutional pathogenic variants in the APC gene...
Hereditary breast cancer beyond : clinicopathological characteristics and long-term outcomes
Hereditary breast cancer beyond : clinicopathological characteristics and long-term outcomes
Limited data exist on hereditary breast cancer characteristics and treatment driven by germline mutations beyond BRCA. Our...
A coordinated multidisciplinary model of care is needed for child and family centered care in pediatric genetic cancer risk services: a scoping review
A coordinated multidisciplinary model of care is needed for child and family centered care in pediatric genetic cancer risk services: a scoping review
Cancer remains a leading cause of death in children/adolescents. Approximately 8–18% of children/adolescents with ca...
Updates and controversies for desmoids in familial adenomatous polyposis
Updates and controversies for desmoids in familial adenomatous polyposis
Desmoids are rare non-cancerous fibrous growths with variable behavior ranging from slow indolent growth or even regressio...
Completeness of colorectal cancer registration in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register
Completeness of colorectal cancer registration in the Danish hereditary non-polyposis colorectal cancer (HNPCC) register
The Danish Hereditary Non-Polyposis Colorectal Cancer Register (HNPCC-R) has formed the basis for many epidemiologic studi...
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...
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