Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.45836
Abstract: Key Points Questions What is the incidence rate of germline alterations in CDH1, which has been reported as a susceptibility gene present in 25% to 50% of patients with hereditary diffuse gastric cancer (HDGC), and… read more here.
Keywords: germline alterations; patients hereditary; hereditary diffuse; gastric cancer ... See more keywords
The benefits of a model of interval comprehensive assessments (MICA) in hereditary cancer Syndromes: Hereditary diffuse gastric cancer (HDGC) as an example.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.03.005
Abstract: A high percentage of individuals at risk for hereditary cancer syndromes are unaware of their risk. This is especially detrimental in syndromes such as hereditary diffuse gastric cancer due to a CDH1 germline mutation, for… read more here.
Keywords: diffuse gastric; hereditary diffuse; cancer; interval comprehensive ... See more keywords
Hereditary Diffuse Gastric Cancer (HDGC). An overview.
Sign Up to like & getrecommendations! Published in 2021 at "Clinics and research in hepatology and gastroenterology"
DOI: 10.1016/j.clinre.2021.101820
Abstract: It is estimated that up to 10% of gastric carcinomas show familial aggregation. In contrast, around 1-3 % (approximately 33,000 yearly) are genuinely hereditary. Hereditary diffuse gastric cancer (HDGC) is a rare malignancy characterized by… read more here.
Keywords: hdgc; hereditary diffuse; gastric cancer; diffuse gastric ... See more keywords
Hereditary Diffuse Gastric Cancer.
Sign Up to like & getrecommendations! Published in 2023 at "Gastroenterology"
DOI: 10.1053/j.gastro.2023.01.038
Abstract: Hereditary Diffuse Gastric Cancer (HDGC) is a dominantly-inherited cancer syndrome characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer (LBC). HDGC is caused by germline mutations in two genes involved… read more here.
Keywords: hereditary diffuse; gastric cancer; diffuse gastric; cancer ... See more keywords
Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuroimaging"
DOI: 10.1111/jon.12725
Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) and multiple sclerosis (MS) are demyelinating and neurodegenerative disorders that can be hard to distinguish clinically and radiologically. HDLS is a rare disorder compared to MS, which has led… read more here.
Keywords: multiple sclerosis; hereditary diffuse; machine learning; mri ... See more keywords
Hereditary Diffuse Gastric Cancer: Approaches to Screening, Surveillance, and Treatment.
Sign Up to like & getrecommendations! Published in 2020 at "Annual review of medicine"
DOI: 10.1146/annurev-med-051019-103216
Abstract: Hereditary diffuse gastric cancer (HDGC) is a cancer syndrome associated with a significant lifetime risk of diffuse gastric cancer (DGC), a malignancy characterized by late clinical presentation and poor prognosis, as well as lobular breast… read more here.
Keywords: medicine; hereditary diffuse; gastric cancer; diffuse gastric ... See more keywords
Skin Biopsy Used for the Diagnosis of Hereditary Diffuse Leukoencephalopathy With Spheroids
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201684
Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare leukodystrophy of the CNS. We present 2 patients from unrelated families with late-onset HDLS. Patient 1 was a 50-year-old woman who developed blurred speech and difficult… read more here.
Keywords: leukoencephalopathy spheroids; hereditary diffuse; diffuse leukoencephalopathy; biopsy ... See more keywords
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation
Sign Up to like & getrecommendations! Published in 2017 at "Magnetic Resonance in Medical Sciences"
DOI: 10.2463/mrms.mp.2016-0016
Abstract: Purpose: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare neurodegenerative disorder with various clinical presentations. Mutation of the colony-stimulating factor 1 receptor (CSF1R) gene is considered to be a cause of this autosomal dominant… read more here.
Keywords: hereditary diffuse; asymptomatic carriers; diffuse leukoencephalopathy; spectroscopy ... See more keywords
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13030400
Abstract: Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial… read more here.
Keywords: cdh1; hereditary diffuse; diffuse gastric; gene ... See more keywords
Hereditary Diffuse Gastric Cancer: A 2022 Update
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12122032
Abstract: Gastric cancer is ranked fifth among the most commonly diagnosed cancers, and is the fourth leading cause of cancer-related deaths worldwide. The majority of gastric cancers are sporadic, while only a small percentage, less than… read more here.
Keywords: hereditary diffuse; cancer; diffuse gastric; gastric cancer ... See more keywords
Germline likely pathogenic variants in ataxia-telangiectasia-mutated gene in an Iranian family with hereditary diffuse gastric cancer without CDH1 mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cancer Research and Therapeutics"
DOI: 10.4103/jcrt.jcrt_344_19
Abstract: Background: Gastric cancer (GC) is the fourth common cancer in the world and the second cause of cancer-related mortality. Germline mutations in the E-cadherin gene (CDH1) are the most common cause of hereditary diffuse GC… read more here.
Keywords: ataxia telangiectasia; hereditary diffuse; cancer; gene ... See more keywords