Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.S270A
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CDH1

NM_004360.5:p.S270A

Associated Papers

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Massari G et al.

Cancers, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Suzuki A et al.

Science Advances, 2020

High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.

Maksimenko J et al.

Hereditary Cancer in Clinical Practice, 2018

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Brovkina OI et al.

Frontiers in Oncology, 2018

Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Busch EL et al.

Oncotarget, 2017

29156750 (PubMed )
Supplement: oncotarget-08-85680-s002.xlsx › CDH1

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Roles for E-cadherin cell surface regulation in cancer.

Petrova YI et al.

Molecular Biology of the Cell, 2016

27582386 (PubMed )
Supplement: supp_E16-01-0058v1_CombinedSupMats.pdf

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

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

SNPs associated with prostate cancer risk and prognosis.

Naylor SL

Frontiers in Bioscience : a Journal and Virtual Library, 2007

DNA variation in MSR1, RNASEL and E-cadherin genes and prostate cancer in Poland.

Cybulski C et al.

Urologia Internationalis, 2007

-160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer.

Jonsson BA et al.

International Journal of Cancer, 2004

Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer.

Jonsson BA et al.

International Journal of Cancer, 2002

Association of E-cadherin germ-line alterations with prostate cancer.

Ikonen T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2001

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