Germline CDH1 deletions in hereditary diffuse gastric cancer families (Q37154264)

18 August 2017

Germline CDH1 deletions in hereditary diffuse gastric cancer families (English)

1 reference

hereditary diffuse gastric cancer

18 August 2017

1 reference

19

1 reference

18 August 2017

Hugo Pinheiro

4

0 references

Remo Sanges

Remo Sanges

5

0 references

Suet-feung Chin

Suet-Feung Chin

14

0 references

Carla Oliveira

Carla Oliveira

1

0 references

Raquel Seruca

Raquel Seruca

17

0 references

Carlos Caldas

Carlos Caldas

20

0 references

David Huntsman

21

David Huntsman

1 reference

18 August 2017

13

Donna Grimmer

1 reference

18 August 2017

Janine Senz

2

1 reference

18 August 2017

Pardeep Kaurah

3

1 reference

18 August 2017

Anne Haegert

6

1 reference

18 August 2017

Giovanni Corso

7

1 reference

18 August 2017

Jan Schouten

8

1 reference

18 August 2017

Rebecca Fitzgerald

9

1 reference

18 August 2017

Holger Vogelsang

10

1 reference

18 August 2017

Gisela Keller

11

1 reference

18 August 2017

Sarah Dwerryhouse

12

1 reference

18 August 2017

Han-Kwang Yang

15

1 reference

18 August 2017

Charles E Jackson

16

1 reference

18 August 2017

Franco Roviello

18

1 reference

18 August 2017

24 January 2009

1 reference

18 August 2017

Human Molecular Genetics

1 reference

18 August 2017

18

1 reference

18 August 2017

9

1 reference

18 August 2017

1545-1555

1 reference

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Small deletion variants have stable breakpoints commonly associated with alu elements.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

The fine-scale and complex architecture of human copy-number variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Paired-end mapping reveals extensive structural variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Saccharomyces cerevisiae Sae2- and Tel1-dependent single-strand DNA formation at DNA break promotes microhomology-mediated end joining

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Genetics, pathology, and clinics of familial gastric cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Familial gastric cancer: overview and guidelines for management

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

E-cadherin germline mutations in familial gastric cancer.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Cryptic signals and the fidelity of V(D)J joining

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Distinct DNA sequence and structure requirements for the two steps of V(D)J recombination signal cleavage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Germline translocations in mice: unique tools for analyzing gene function and long-distance regulatory mechanisms

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Desmoglein 2 is expressed abnormally rather than mutated in familial and sporadic gastric cancer.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

E-cadherin is not frequently mutated in hereditary gastric cancer

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2667284

Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred

3 September 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP046

Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP046

Identification of Alu elements mediating a partial PMP22 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP046

Early Gastric Cancer in Young, Asymptomatic Carriers of Germ-Line E-Cadherin Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP046

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations

21 January 2018

1 reference

12 December 2020

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour

1 reference

12 December 2020

Identification of germ-line E-cadherin mutations in gastric cancer families of European origin

1 reference

12 December 2020

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP046

1 reference

18 August 2017

1 reference

18 August 2017

1 reference