Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Published 2023 View Full Article
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Title
Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant
Authors
Keywords
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Journal
Familial Cancer
Volume 22, Issue 4, Pages 521-526
Publisher
Springer Science and Business Media LLC
Online
2023-08-04
DOI
10.1007/s10689-023-00346-z
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Note: Only part of the references are listed.- Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study
- (2023) Bilal Asif et al. LANCET ONCOLOGY
- Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
- (2022) Benjamin A Lerner et al. JOURNAL OF MEDICAL GENETICS
- Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
- (2022) Carolyn Horton et al. npj Genomic Medicine
- Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
- (2022) Xi Luo et al. JOURNAL OF MEDICAL GENETICS
- Modeling the impact of data sharing on variant classification
- (2022) James Casaletto et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study
- (2022) Colin Y C Lee et al. LANCET ONCOLOGY
- Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes
- (2022) José Garcia-Pelaez et al. LANCET ONCOLOGY
- Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results
- (2021) Katherine E. Donohue et al. CLINICAL GENETICS
- The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing
- (2021) Rita Barbosa-Matos et al. Cancers
- Cancer predisposition and germline CTNNA1 variants
- (2021) Silvana Lobo et al. European Journal of Medical Genetics
- Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk
- (2021) Lauren A. Gamble et al. JAMA Surgery
- Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer
- (2020) Dana Farengo Clark et al. GENETICS IN MEDICINE
- Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers
- (2020) Giulia Federici et al. JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Hereditary diffuse gastric cancer: updated clinical practice guidelines
- (2020) Vanessa R Blair et al. LANCET ONCOLOGY
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis
- (2020) Chloe Mighton et al. GENETICS IN MEDICINE
- Improving Genetic Testing in Hereditary Cancer by RNA Analysis
- (2020) Paula Rofes et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Predicting Splicing from Primary Sequence with Deep Learning
- (2019) Kishore Jaganathan et al. CELL
- The effects of genomic germline variant reclassification on clinical cancer care
- (2019) Thomas P. Slavin et al. Oncotarget
- Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons
- (2019) Eric R. Manahan et al. ANNALS OF SURGICAL ONCOLOGY
- Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
- (2019) Rosa M Xicola et al. JOURNAL OF MEDICAL GENETICS
- Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers
- (2019) Maegan E. Roberts et al. JAMA Oncology
- CDH1 on multigene panel testing: Look before you leap
- (2019) Bryson W Katona et al. JNCI-Journal of the National Cancer Institute
- ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
- (2018) Alex Henrie et al. HUMAN MUTATION
- Hereditary cancer genes are highly susceptible to splicing mutations
- (2018) Christy L. Rhine et al. PLoS Genetics
- Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
- (2018) Jacqueline Mersch et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
- (2018) Kristy Lee et al. HUMAN MUTATION
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- E-cadherin junctions as active mechanical integrators in tissue dynamics
- (2015) Thomas Lecuit et al. NATURE CELL BIOLOGY
- RNA mis-splicing in disease
- (2015) Marina M. Scotti et al. NATURE REVIEWS GENETICS
- Hereditary Diffuse Gastric Cancer Syndrome
- (2015) Samantha Hansford et al. JAMA Oncology
- Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida
- (2014) S.T. Vadaparampil et al. CLINICAL GENETICS
- A Statewide Survey of Practitioners to Assess Knowledge and Clinical Practices Regarding Hereditary Breast and Ovarian Cancer
- (2013) Tuya Pal et al. Genetic Testing and Molecular Biomarkers
- What’s the Harm? Genetic Counselor Perceptions of Adverse Effects of Genetics Service Provision by Non-Genetics Professionals
- (2013) Tracy A. Bensend et al. Journal of Genetic Counseling
- Germline CDH1 deletions in hereditary diffuse gastric cancer families
- (2009) C. Oliveira et al. HUMAN MOLECULAR GENETICS
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