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
Clinical decision tree for optimizing endoscopic assessment of signet ring cell carcinoma in hereditary diffuse gastric cancer surveillance
Sign Up to like & getrecommendations! Published in 2025 at "Endoscopy"
DOI: 10.1055/a-2634-7895
Abstract: Abstract Background Prophylactic total gastrectomy is the definitive treatment for hereditary diffuse gastric cancer syndrome (HDGC). Endoscopic surveillance informs the requirement for and optimal timing of surgery. However, endoscopic recognition of early signet ring cell… read more here.
Keywords: diffuse gastric; cancer; surveillance; 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