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

https://arctichealth.org/en/permalink/ahliterature17926
Source
Int J Cancer. 2004 Apr 10;109(3):348-52
Publication Type
Article
Date
Apr-10-2004
Author
Jonsson B-A
Adami H-O
Hägglund M
Bergh A
Göransson I
Stattin P
Wiklund F
Grönberg H
Author Affiliation
Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden.
Source
Int J Cancer. 2004 Apr 10;109(3):348-52
Date
Apr-10-2004
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Cadherins - genetics
Case-Control Studies
Comparative Study
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide
Promoter Regions (Genetics)
Prostate
Prostatic Neoplasms - epidemiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Abstract
The E-cadherin (CDH1) gene has been associated with prostate carcinogenesis. The C/A polymorphism--160 base pairs relative to the transcription start site has been shown to decrease gene transcription. We analyzed the association between this polymorphism and the risk of sporadic, familial (2 close relatives) and hereditary (3 or more close relatives) prostate cancer. We combined data from 3 population-based epidemiologic studies in Sweden encompassing altogether 1,036 prostate cancer cases and 669 controls that were genotyped for the short nucleotide polymorphism. Odds ratios with 95% confidence intervals were estimated through unconditional logistic regression. We found no significant association between the A-allele and sporadic (OR = 1.0; 95% CI = 0.8-1.2) or familial (OR = 1.4; 95% CI = 0.9-2.2) prostate cancer. In contrast, risk of hereditary cancer was increased among heterozygote CA carriers (OR = 1.7; 95% CI = 1.0-2.7) and particularly among homozygote AA carriers (OR = 2.6; 95% CI = 1.4-4.9). Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer.
PubMed ID
14961571 View in PubMed
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Alterations of E-cadherin and beta-catenin in gastric cancer.

https://arctichealth.org/en/permalink/ahliterature19398
Source
BMC Cancer. 2001;1:16
Publication Type
Article
Date
2001
Author
C. Huiping
S. Kristjansdottir
J G Jonasson
J. Magnusson
V. Egilsson
S. Ingvarsson
Author Affiliation
Department of Pathology, National University Hospital, 101 Reykjavík, Iceland. chen@rsp.is
Source
BMC Cancer. 2001;1:16
Date
2001
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Breast Neoplasms - genetics - pathology
Cadherins - genetics - physiology
Cell Adhesion - genetics - physiology
Chromosomes, Human, Pair 16 - genetics
Cytoskeletal Proteins - genetics - physiology
DNA Mutational Analysis - methods
DNA, Neoplasm - genetics
Female
Gene Expression Regulation, Neoplastic - genetics - physiology
Germ-Line Mutation - genetics - physiology
Humans
Loss of Heterozygosity - genetics
Male
Mutation, Missense - genetics - physiology
Prostatic Neoplasms - genetics - pathology
Research Support, Non-U.S. Gov't
Skin Neoplasms - genetics - pathology
Stomach Neoplasms - genetics - pathology
Trans-Activators - genetics - physiology
beta Catenin
Abstract
BACKGROUND: The E-cadherin-catenin complex plays a crucial role in epithelial cell-cell adhesion and in the maintenance of tissue architecture. Perturbation in the expression or function of this complex results in loss of intercellular adhesion, with possible consequent cell transformation and tumour progression. METHODS: We studied the alterations of E-cadherin and beta-catenin in a set of 50 primary gastric tumours by using loss of heterozygosity (LOH) analysis, gene mutation screening, detection of aberrant transcripts and immunohistochemistry (IHC). RESULTS: A high frequency (75%) of LOH was detected at 16q22.1 containing E-cadherin locus. Three cases (6%) showed the identical missense mutation, A592T. This mutation is not likely to contribute strongly to the carcinogenesis of gastric cancer, because a low frequency (1.6%) of this mutation was also found in 187 normal individuals. We also detected a low frequency (0.36%, 0%) of this mutation in 280 breast tumours and 444 other tumours, including colon and rectum, lung, endometrium, ovary, testis, kidney, thyroid carcinomas and sarcomas, respectively. We also analyzed the aberrant E-cadherin mRNAs in the gastric tumours and found that 7 tumours (18%) had aberrant mRNAs in addition to the normal mRNA. These aberrant mRNAs may produce abnormal E-cadherin molecules, resulting in weak cell-cell adhesion and invasive behaviour of carcinoma cells. Reduced expression of E-cadherin and beta-catenin was identified at the frequency of 42% and 28%, respectively. Specially, 11 tumours (22%) exhibited positive cytoplasmic staining for beta-catenin IHC. An association was found between reduced expression of E-cadherin and beta-catenin. Moreover, an association was detected between reduced expression of E-cadherin and diffuse histotype. CONCLUSION: Our results support the hypothesis that alterations of E-cadherin and beta-catenin play a role in the initiation and progression of gastric cancer.
PubMed ID
11747475 View in PubMed
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CDH1 c-160a promotor polymorphism is not associated with risk of stomach cancer.

https://arctichealth.org/en/permalink/ahliterature188726
Source
Int J Cancer. 2002 Sep 10;101(2):196-7
Publication Type
Article
Date
Sep-10-2002
Author
Paul D P Pharoah
Carla Oliveira
José Carlos Machado
Gisella Keller
Holger Vogelsang
Holger Laux
Karl-Friedrich Becker
Heidi Hahn
Suzanne M Paproski
Lindsay A Brown
Carlos Caldas
David Huntsman
Author Affiliation
Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Cambridge, United Kingdom.
Source
Int J Cancer. 2002 Sep 10;101(2):196-7
Date
Sep-10-2002
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Cadherins - genetics
Canada
Female
Gene Frequency
Genetic Predisposition to Disease
Germany
Humans
Male
Middle Aged
Odds Ratio
Polymorphism, Genetic - genetics
Portugal
Promoter Regions, Genetic - genetics
Stomach Neoplasms - etiology - genetics
Abstract
We have combined data from case control studies designed to test the hypothesis that the c-160a promotor polymorphism in the gene coding for the cell adhesion molecule E-cadherin (CDH1) is associated with stomach cancer. A total of 899 individuals (433 patients and 466 controls) were analyzed. The genotype frequencies did not differ significantly between cases and controls, and the genotype-specific risks were not significantly different from unity, with an odds ratio for heterozygotes compared with the common homozygote of 1.3 (95% CI 0.98-1.8) and 1.2 (0.68-2.0) for rare homozygotes compared with common homozygotes. We found no evidence for differences in risk for the intestinal- and diffuse-type histopathologic subgroups.
PubMed ID
12209998 View in PubMed
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Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

https://arctichealth.org/en/permalink/ahliterature20709
Source
Br J Cancer. 1999 Dec;81(7):1103-10
Publication Type
Article
Date
Dec-1999
Author
C. Huiping
J R Sigurgeirsdottir
J G Jonasson
G. Eiriksdottir
J T Johannsdottir
V. Egilsson
S. Ingvarsson
Author Affiliation
Department of Pathology, National University Hospital, Reykjavik, Iceland.
Source
Br J Cancer. 1999 Dec;81(7):1103-10
Date
Dec-1999
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - genetics
Cadherins - genetics
Chromosome Aberrations - genetics
Chromosome Disorders
Chromosome Mapping
Female
Humans
Immunohistochemistry
Loss of Heterozygosity
Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Abstract
We have studied a set of 40 human lobular breast cancers for loss of heterozygosity (LOH) at various chromosome locations and for mutations in the coding region plus flanking intron sequences of the E-cadherin gene. We found a high frequency of LOH (100%, 31/31) at 16q21-q22.1. A significantly higher level of LOH was detected in ductal breast tumours at chromosome arms 1p, 3p, 9p, 11q, 13q and 18q compared to lobular breast tumours. Furthermore, we found a significant association between LOH at 16q containing the E-cadherin locus and lobular histological type. Six different somatic mutations were detected in the E-cadherin gene, of which three were insertions, two deletions and one splice site mutation. Mutations were found in combination with LOH of the wild type E-cadherin locus and loss of or reduced E-cadherin expression detected by immunohistochemistry. The mutations described here have not previously been reported. We compared LOH at different chromosome regions with E-cadherin gene mutations and found a significant association between LOH at 13q and E-cadherin gene mutations. A significant association was also detected between LOH at 13q and LOH at 7q and 11q. Moreover, we found a significant association between LOH at 3p and high S phase, LOH at 9p and low ER and PgR content, LOH at 17p and aneuploidy. We conclude that LOH at 16q is the most frequent chromosome alteration and E-cadherin is a typical tumour suppressor gene in lobular breast cancer.
PubMed ID
10584868 View in PubMed
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Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

https://arctichealth.org/en/permalink/ahliterature123521
Source
Mol Vis. 2012;18:1379-83
Publication Type
Article
Date
2012
Author
Qi Zhou
Chaeli Lenger
Richard Smith
William J Kimberling
Ming Ye
Ordan Lehmann
Ian MacDonald
Author Affiliation
Department of Ophthalmology, Peking Union Medical College, Beijing, China.
Source
Mol Vis. 2012;18:1379-83
Date
2012
Language
English
Publication Type
Article
Keywords
Adolescent
Alberta
Cadherins - genetics
Child
Ethnic Groups - genetics
Exons
Female
Genetic Heterogeneity
Genetic Linkage
Genotype
Homozygote
Humans
Male
Myosins - genetics
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Siblings
Usher Syndromes - genetics - pathology
Abstract
To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I.
Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). Single nucleotide polymorphic linkage analysis was then used to confirm another locus, and DNA was analyzed with the Usher Chip v4.0 platform.
Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings.
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.
Notes
Cites: Exp Eye Res. 2000 Aug;71(2):173-8110930322
Cites: Mol Vis. 2010;16:1898-90621031134
Cites: Hum Mol Genet. 2001 Aug 1;10(16):1709-1811487575
Cites: BMJ. 2001 Sep 8;323(7312):536-4011546698
Cites: Clin Genet. 2003 Jun;63(6):431-4412786748
Cites: Clin Exp Optom. 2004 Mar;87(2):65-8015040773
Cites: Nat Rev Genet. 2004 Jul;5(7):489-9815211351
Cites: J Speech Hear Res. 1969 Sep;12(3):541-634900022
Cites: J Chronic Dis. 1983;36(8):595-6036885960
Cites: Arch Ophthalmol. 1983 Sep;101(9):1367-746604514
Cites: Am J Med Genet. 1985 Nov;22(3):453-623904447
Cites: Am J Med Genet. 1985 Nov;22(3):545-523840650
Cites: Am J Med Genet. 1993 Jun 15;46(5):486-918322805
Cites: Am J Med Genet. 1994 Mar 1;50(1):32-88160750
Cites: Nature. 1995 Mar 2;374(6517):60-17870171
Cites: Laryngoscope. 1995 Jun;105(6):613-77769945
Cites: Int Ophthalmol. 1995-1996;19(5):307-118864816
Cites: Br J Ophthalmol. 1997 Jan;81(1):46-539135408
Cites: Clin Genet. 1997 May;51(5):314-219212179
Cites: Arch Otolaryngol Head Neck Surg. 1999 Apr;125(4):441-510208682
Cites: Hum Genet. 2005 Mar;116(4):292-915660226
Cites: Hum Mutat. 2006 Mar;27(3):290-116470552
Cites: J Med Genet. 2006 Sep;43(9):763-816679490
Cites: J Med Genet. 2007 Feb;44(2):153-6016963483
Cites: Genet Med. 2010 Aug;12(8):512-620613545
Cites: Laryngoscope. 2001 Jan;111(1):84-611192904
PubMed ID
22690115 View in PubMed
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Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.

https://arctichealth.org/en/permalink/ahliterature171675
Source
Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70
Publication Type
Article
Date
Jan-5-2006
Author
Christelle M Durand
Caroline Kappeler
Catalina Betancur
Richard Delorme
Hélène Quach
Hany Goubran-Botros
Jonas Melke
Gudrun Nygren
Nadia Chabane
Franck Bellivier
Andrei Szoke
Franck Schurhoff
Maria Rastam
Henrik Anckarsäter
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Author Affiliation
Human Genetics and Cognitive Functions, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France.
Source
Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):67-70
Date
Jan-5-2006
Language
English
Publication Type
Article
Keywords
Amino Acid Sequence
Attention Deficit Disorder with Hyperactivity - genetics
Autistic Disorder - genetics
Bipolar Disorder - genetics
Brain - metabolism
Cadherins - genetics
DNA Mutational Analysis
France
Gene Expression
Gene Frequency
Genetic Predisposition to Disease - genetics
Haplotypes
Humans
Male
Mental Disorders - genetics
Molecular Sequence Data
Mutation
Mutation, Missense
Polymorphism, Genetic
RNA - genetics - metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sequence Homology, Amino Acid
Sweden
Abstract
Synaptogenesis, the formation of functional synapses, is a crucial step for the development of the central nervous system. Among the genes involved in this process are cell adhesion molecules, such as protocadherins and neuroligins, which are essential factors for the identification of the appropriate partner cell and the formation of synapses. In this work, we studied the expression and the genetic variability of two closely related members of the protocadherin family PCDH11X/Y, located on the X and the Y chromosome, respectively. PCDH11Y is one of the rare genes specific to the hominoid lineage, being absent in other primates. Expression analysis indicated that transcripts of the PCDH11X/Y genes are mainly detected in the cortex of the human brain. Mutation screening of 30 individuals with autism identified two PCDH11Y polymorphic amino acid changes, F885V and K980N. These variations are in complete association, appeared during human evolution approximately 40,000 years ago and represent informative polymorphisms to study Y chromosome variability in populations. We studied the frequency of these variants in males with autism spectrum disorders (n = 110), attention deficit hyperactivity disorder (ADHD; n = 61), bipolar disorder (n = 61), obsessive-compulsive disorder (n = 51), or schizophrenia (n = 61) and observed no significant differences when compared to ethnically-matched control populations. These findings do not support the role of PCDH11Y, or more generally of a frequent specific Y chromosome, in the susceptibility to these neuropsychiatric disorders.
PubMed ID
16331680 View in PubMed
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Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

https://arctichealth.org/en/permalink/ahliterature163216
Source
JAMA. 2007 Jun 6;297(21):2360-72
Publication Type
Article
Date
Jun-6-2007
Author
Pardeep Kaurah
Andrée MacMillan
Niki Boyd
Janine Senz
Alessandro De Luca
Nicki Chun
Gianpaolo Suriano
Sonya Zaor
Lori Van Manen
Cathy Gilpin
Sarah Nikkel
Mary Connolly-Wilson
Scott Weissman
Wendy S Rubinstein
Courtney Sebold
Robert Greenstein
Jennifer Stroop
Dwight Yim
Benoit Panzini
Wendy McKinnon
Marc Greenblatt
Debrah Wirtzfeld
Daniel Fontaine
Daniel Coit
Sam Yoon
Daniel Chung
Gregory Lauwers
Antonio Pizzuti
Carlos Vaccaro
Maria Ana Redal
Carla Oliveira
Marc Tischkowitz
Sylviane Olschwang
Steven Gallinger
Henry Lynch
Jane Green
James Ford
Paul Pharoah
Bridget Fernandez
David Huntsman
Author Affiliation
Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Source
JAMA. 2007 Jun 6;297(21):2360-72
Date
Jun-6-2007
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Aged
Aged, 80 and over
Cadherins - genetics
DNA Mutational Analysis
Female
Founder Effect
Genetic Counseling
Germ-Line Mutation
Haplotypes
Heterozygote
Heterozygote Detection
Humans
Male
Middle Aged
Mutation
Newfoundland and Labrador - epidemiology
Pedigree
Penetrance
Stomach Neoplasms - genetics - mortality
Abstract
Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer.
To determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry.
Thirty-eight families diagnosed clinically with hereditary diffuse gastric cancer were accrued between November 2004 and January 2006 and were analyzed for CDH1 mutations as part of an ongoing study at the British Columbia Cancer Agency. Twenty-six families had at least 2 gastric cancer cases with 1 case of diffuse gastric cancer in a person younger than 50 years; 12 families had either a single case of diffuse gastric cancer diagnosed in a person younger than 35 years or multiple cases of diffuse gastric cancer diagnosed in persons older than 50 years.
Classification of family members as carriers or noncarriers of CDH1 mutations. Haplotype analysis to assess recurring mutations for common ancestry was performed on 7 families from this study and 7 previously reported families with the same mutations.
Thirteen mutations (6 novel) were identified in 15 of the 38 families (40% detection rate). The 1137G>A splicing mutation and the 1901C>T (A634V) missense/splicing mutation occurred on common haplotypes in 2 families but on different haplotypes in a third family. The 2195G>A (R732Q) missense/splicing mutation occurred in 2 families on different haplotypes. The 2064-2065delTG mutation occurred on a common haplotype in 2 families. Two families from this study plus 2 additional families carrying the novel 2398delC mutation shared a common haplotype, suggesting a founder effect. All 4 families originate from the southeast coast of Newfoundland. Due to concentrations of lobular breast cancer cases, 2 branches of this family had been diagnosed as having hereditary breast cancer and were tested for BRCA mutations. Within these 4 families, the cumulative risk by age 75 years in mutation carriers for clinically detected gastric cancer was 40% (95% confidence interval [CI], 12%-91%) for males and 63% (95% CI, 19%-99%) for females and the risk for breast cancer in female mutation carriers was 52% (95% CI, 29%-94%).
Recurrent CDH1 mutations in families with hereditary diffuse gastric cancer are due to both independent mutational events and common ancestry. The presence of a founder mutation from Newfoundland is strongly supported.
Notes
Comment In: JAMA. 2007 Jun 6;297(21):2410-117545691
Comment In: Gastroenterology. 2007 Nov;133(5):1730-2; discussion 1732-317983818
PubMed ID
17545690 View in PubMed
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Genetic background of extreme violent behavior.

https://arctichealth.org/en/permalink/ahliterature270057
Source
Mol Psychiatry. 2015 Jun;20(6):786-92
Publication Type
Article
Date
Jun-2015
Author
J. Tiihonen
M-R Rautiainen
H M Ollila
E. Repo-Tiihonen
M. Virkkunen
A. Palotie
O. Pietiläinen
K. Kristiansson
M. Joukamaa
H. Lauerma
J. Saarela
S. Tyni
H. Vartiainen
J. Paananen
D. Goldman
T. Paunio
Source
Mol Psychiatry. 2015 Jun;20(6):786-92
Date
Jun-2015
Language
English
Publication Type
Article
Keywords
Adult
Antisocial Personality Disorder - genetics
Cadherins - genetics
Cohort Studies
Female
Finland
Genetic Association Studies
Genotype
Humans
Male
Middle Aged
Monoamine Oxidase - genetics
Polymorphism, Single Nucleotide - genetics
Violence
Abstract
In developed countries, the majority of all violent crime is committed by a small group of antisocial recidivistic offenders, but no genes have been shown to contribute to recidivistic violent offending or severe violent behavior, such as homicide. Our results, from two independent cohorts of Finnish prisoners, revealed that a monoamine oxidase A (MAOA) low-activity genotype (contributing to low dopamine turnover rate) as well as the CDH13 gene (coding for neuronal membrane adhesion protein) are associated with extremely violent behavior (at least 10 committed homicides, attempted homicides or batteries). No substantial signal was observed for either MAOA or CDH13 among non-violent offenders, indicating that findings were specific for violent offending, and not largely attributable to substance abuse or antisocial personality disorder. These results indicate both low monoamine metabolism and neuronal membrane dysfunction as plausible factors in the etiology of extreme criminal violent behavior, and imply that at least about 5-10% of all severe violent crime in Finland is attributable to the aforementioned MAOA and CDH13 genotypes.
PubMed ID
25349169 View in PubMed
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22 records – page 1 of 3.