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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...
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...
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...
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals
The role of endoscopic ultrasound in the detection of pancreatic lesions in high-risk individuals
Individuals at high risk of developing pancreatic ductal adenocarcinoma are eligible for surveillance within research prog...
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs
Cascade genetic testing for hereditary cancer syndromes: a review of barriers and breakthroughs
Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing...
Progress report: Peutz–Jeghers syndrome
Progress report: Peutz–Jeghers syndrome
Peutz–Jeghers syndrome is a rare, autosomal dominant polyposis syndrome. Presenting with a remarkable phenotype incl...
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 ...
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...
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...
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...
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients
High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients
Lynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which ...
Breast density in NF1 women: a retrospective study
Breast density in NF1 women: a retrospective study
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by neurofibromin haploinsufficiency due to pathog...
Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours
Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours
Li-Fraumeni Syndrome (LFS), caused by germline pathogenic variants in TP53, predisposes to a wide range of young-onset mal...
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review
Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review
Inherited cardiovascular diseases cover the inherited cardiovascular disease familial hypercholesterolemia and inherited c...
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...
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study
Juvenile polyposis syndrome (JPS) is a hereditary hamartomatous polyposis syndrome characterized by gastrointestinal juven...
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center
This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic b...
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Cancer surveillance for transgender and gender diverse patients with Lynch syndrome: a practice resource of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer
Transgender and gender diverse (TGD) populations with hereditary cancer syndromes face unique obstacles to identifying and...
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1
Young women with Neurofibromatosis type 1 (NF1) have a high risk of developing breast cancer and poorer survival following...
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and en...
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare, autosomal dominant tumor predisposition syndrome cha...
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