Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Q64*
Back to variants list

CDH1

NM_004360.5:p.Q64*

Associated Papers

Identifying prognostic biomarkers for palbociclib add-on therapy in fulvestrant-resistant breast cancer using cell-free DNA sequencing.

Takeshita T et al.

Esmo Open, 2024

38387111 (PubMed )
Supplement: mmc2.xlsx › Baseline

Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients.

Corso G et al.

Oncology, 2024

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

The Genomic Landscape of Lobular Breast Cancer.

McCart Reed AE et al.

Cancers, 2021

33919581 (PubMed )
Supplement: cancers-13-01950-s001.zip › cancers-1163927-supplementary_tables.xlsx › Table_S1_WES

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

E-cadherin germline mutations in Māori population.

De Scalzi AM et al.

Future Oncology (london, England), 2019

Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

Hakkaart C et al.

Familial Cancer, 2019

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.

Huynh JM et al.

Molecular Genetics & Genomic Medicine, 2016

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Hansford S et al.

Jama Oncology, 2015

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

Corso G et al.

Bmc Cancer, 2012

[Hereditary gastric cancer].

Wolf EM et al.

Der Pathologe, 2010

Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.

Guilford P et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010

Hereditary diffuse gastric cancer.

Schrader K et al.

Cancer Treatment and Research, 2010

A short guide to hereditary diffuse gastric cancer.

Guilford P et al.

Hereditary Cancer in Clinical Practice, 2007

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

Kaurah P et al.

Jama, 2007

Genetics, pathology, and clinics of familial gastric cancer.

Oliveira C et al.

International Journal of Surgical Pathology, 2006

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

Brooks-Wilson AR et al.

Journal of Medical Genetics, 2004

Genetic screening for familial gastric cancer.

Oliveira C et al.

Hereditary Cancer in Clinical Practice, 2004

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

Preventive gastrectomy in patients with gastric cancer risk due to genetic alterations of the E-cadherin gene defect.

Schwarz A

Langenbeck's Archives of Surgery, 2003

Familial gastric cancer: overview and guidelines for management.

Caldas C et al.

Journal of Medical Genetics, 1999

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.

Guilford PJ et al.

Human Mutation, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."