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  1. Article: Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.

    Hatch, Sarah L / Trewick, Anne L / Payne, Stewart J

    Annals of clinical biochemistry

    2007  Volume 44, Issue Pt 2, Page(s) 159–163

    Abstract: Background: Juvenile polyposis syndrome is an inherited condition associated with the development of gastrointestinal polyps and subsequent cancer. An efficient denaturing high-performance liquid chromatography (DHPLC) screening method has been ... ...

    Abstract Background: Juvenile polyposis syndrome is an inherited condition associated with the development of gastrointestinal polyps and subsequent cancer. An efficient denaturing high-performance liquid chromatography (DHPLC) screening method has been developed to detect mutations in SMAD4, which account for around 20% of reported cases.
    Methods: The nucleotide sequences of polymerase chain reaction (PCR)amplified SMAD4 exons were examined using WAVEMAKER software to determine suitable DHPLC conditions. Multiple wild-type controls were characterized by DHPLC, and known mutations analysed where available.
    Results: DHPLC elution profiles for wild-type and variant SMAD4 alleles were successfully characterized across a range of column oven temperatures.
    Conclusions: DHPLC analysis of SMAD4 has been refined to an efficient screening protocol that uses the minimal number of column oven temperatures for reliable mutation detection.
    MeSH term(s) Chromatography, High Pressure Liquid/methods ; DNA Mutational Analysis ; Exons/genetics ; Genetic Testing/methods ; Humans ; Intestinal Polyposis/diagnosis ; Intestinal Polyposis/genetics ; Mutation ; Nucleic Acid Denaturation ; Polymerase Chain Reaction ; Reproducibility of Results ; Smad4 Protein/genetics
    Chemical Substances Smad4 Protein
    Language English
    Publishing date 2007-03
    Publishing country England
    Document type Journal Article
    ZDB-ID 390309-6
    ISSN 1758-1001 ; 0004-5632
    ISSN (online) 1758-1001
    ISSN 0004-5632
    DOI 10.1258/000456307780118181
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

    Geary, Johanne / Sasieni, Peter / Houlston, Richard / Izatt, Louise / Eeles, Ros / Payne, Stewart J / Fisher, Samantha / Hodgson, Shirley V

    Familial cancer

    2007  Volume 7, Issue 2, Page(s) 163–172

    Abstract: The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n = 4)) were obtained, and incidence of cancers in those ... ...

    Abstract The family histories of 130 individuals with documented hereditary non-polyposis colorectal cancer (HNPCC) (caused by mutations in mismatch-repair (MMR) genes MSH2 (n = 64), MLH1 (n = 62) or MSH6 (n = 4)) were obtained, and incidence of cancers in those families was compared to that in the general population. There were a total of 982 cancers in 723 individuals. Colorectal cancer (CRC) was the commonest type (64% and 55% in individuals from families with germline MLH1 and MSH2 mutations respectively). Median age at diagnosis of first CRC in MSH6 mutation families was 59 years compared to 45 years in both MLH1 and MSH2 mutation families. The relative risk (RR) of endometrial cancer was 55 in MSH2 mutation families, compared with 27 in MLH1 mutation families, and 37 in MSH6 mutation families; median age at diagnosis 49 years. Even within MSH2 families, endometrial cancer tended to cluster, with 28 of the 58 cases coming from families with three or more cases (P < 0.001). Absolute risk of endometrial cancer in MLH1 families was still greater than any other cancer (other than CRC). 5% of cancers in both MLH1 and MSH2 mutation families were gastric (RR = 12); 53% of these were diagnosed before 50 years. Seven cases of small intestinal cancer occurred in MSH2 and MLH1 mutation families (RR = 26). There were 13 cases of cancer of the ureter; all were in MSH2 families. These cancers tended to cluster within families (P < 0.001); three of seven families with urothelial cancer had such cases in two or more individuals; two others had kidney cancer. Nineteen of 27 ovarian cancers (70%) were in MSH2 mutation families and 70% of these were diagnosed before age 50 years. There were 9 cases of sebaceous skin cancer, 3 in two MLH1 and 6 in four MSH2 mutation families. Of 22 pancreatic cancers, 14 were known to be diagnosed before 60 years. Breast cancer RR was 1.7 overall. The type of mutation (truncating or other type, and site of mutation) showed no obvious correlation with the presence or absence of extra-colonic cancers in families.
    MeSH term(s) Age Factors ; Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; DNA Mismatch Repair ; DNA-Binding Proteins/genetics ; Digestive System Neoplasms/epidemiology ; Digestive System Neoplasms/genetics ; Female ; Genital Neoplasms, Female/epidemiology ; Genital Neoplasms, Female/genetics ; Humans ; Incidence ; Male ; Middle Aged ; Multigene Family ; MutS Homolog 2 Protein/genetics ; Risk Assessment ; Risk Factors ; Skin Neoplasms/epidemiology ; Skin Neoplasms/genetics ; United Kingdom/epidemiology ; Urologic Neoplasms/epidemiology ; Urologic Neoplasms/genetics
    Chemical Substances DNA-Binding Proteins ; G-T mismatch-binding protein ; MSH2 protein, human (EC 3.6.1.3) ; MutS Homolog 2 Protein (EC 3.6.1.3)
    Language English
    Publishing date 2007-10-16
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1502496-9
    ISSN 1389-9600
    ISSN 1389-9600
    DOI 10.1007/s10689-007-9164-6
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  3. Article ; Online: Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

    de Smith, Adam J / van Haelst, Mieke M / Ellis, Richard J / Holder, Susan E / Payne, Stewart J / Hashim, Sugera K / Froguel, Philippe / Blakemore, Alexandra I F

    American journal of medical genetics. Part A

    2011  Volume 155A, Issue 5, Page(s) 1192–1195

    MeSH term(s) Adolescent ; Chromosome Deletion ; Chromosomes, Human, Pair 19 ; Comparative Genomic Hybridization ; Exons ; Female ; Gene Dosage ; Humans ; Intellectual Disability/genetics ; Megalencephaly/genetics ; Mental Disorders/genetics ; Obesity/genetics
    Language English
    Publishing date 2011-04-04
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.33986
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Unusual presentation of Lynch Syndrome

    Yu Veronica PCC / Novelli Marco / Payne Stewart J / Fisher Sam / Barnetson Rebecca A / Frayling Ian M / Barrett Ann / Goudie David / Ardern-Jones Audrey / Eeles Ros / Shanley Susan

    Hereditary Cancer in Clinical Practice , Vol 7, Iss 1, p

    2009  Volume 12

    Abstract: Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the ... ...

    Abstract Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.
    Keywords Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Language English
    Publishing date 2009-06-01T00:00:00Z
    Publisher BioMed Central
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Unusual presentation of Lynch Syndrome.

    Yu, Veronica P C C / Novelli, Marco / Payne, Stewart J / Fisher, Sam / Barnetson, Rebecca A / Frayling, Ian M / Barrett, Ann / Goudie, David / Ardern-Jones, Audrey / Eeles, Ros / Shanley, Susan

    Hereditary cancer in clinical practice

    2009  Volume 7, Issue 1, Page(s) 12

    Abstract: Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, ... ...

    Abstract Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.
    Language English
    Publishing date 2009-06-03
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 2252512-9
    ISSN 1897-4287 ; 1731-2302
    ISSN (online) 1897-4287
    ISSN 1731-2302
    DOI 10.1186/1897-4287-7-12
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  6. Article ; Online: Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

    Farrell, Michael P / Hughes, David J / Berry, Ian R / Gallagher, David J / Glogowski, Emily A / Payne, Stewart J / Kennedy, Michael J / Clarke, Róisín M / White, Susan A / Muldoon, Cian B / Macdonald, Fiona / Rehal, Pauline / Crompton, Danielle / Roring, Solvig / Duke, Sarah T / McDevitt, Trudi / Barton, David E / Hodgson, Shirley V / Green, Andrew J /
    Daly, Peter A

    Familial cancer

    2012  Volume 11, Issue 3, Page(s) 509–518

    Abstract: Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of ... ...

    Abstract Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of the effect of missense and silent variants as deleterious or neutral is challenging. Pre-symptomatic testing for clinical use is not recommended for relatives of individuals with variants classified as 'of uncertain significance'. These relatives, including non-carriers, are considered at high-risk as long as the contribution of the variant to disease causation cannot be determined. This results in continuing anxiety, and the application of potentially unnecessary screening and prophylactic interventions. We encountered a large Irish Lynch syndrome kindred that carries the c.544A>G (p.Arg182Gly) alteration in the MLH1 gene and we undertook to study the variant. The clinical significance of the variant remains unresolved in the literature. Data are presented on cancer incidence within five kindreds with the same germline missense variant in the MLH1 MMR gene. Extensive testing of relevant family members in one kindred, a review of the literature, review of online MMR mutation databases and use of in silico phenotype prediction tools were undertaken to study the significance of this variant. Clinical, histological, immunohistochemical and molecular evidence from these families and other independent clinical and scientific evidence indicates that the MLH1 p.Arg182Gly (c.544A>G) change causes Lynch syndrome and supports reclassification of the variant as pathogenic.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adult ; Aged ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Female ; Genetic Testing ; Humans ; Male ; Middle Aged ; MutL Protein Homolog 1 ; Mutation ; Nuclear Proteins/genetics ; Pedigree
    Chemical Substances Adaptor Proteins, Signal Transducing ; MLH1 protein, human ; Nuclear Proteins ; MutL Protein Homolog 1 (EC 3.6.1.3)
    Language English
    Publishing date 2012-07-08
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-012-9544-4
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  7. Article: Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.

    Porter, Timothy R / Richards, Frances M / Houlston, Richard S / Evans, D Gareth R / Jankowski, Janusz A / Macdonald, Fiona / Norbury, Gail / Payne, Stewart J / Fisher, Samantha A / Tomlinson, Ian / Maher, Eamonn R

    Oncogene

    2002  Volume 21, Issue 12, Page(s) 1928–1933

    Abstract: The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but there is increasing evidence that common genetic variants may play a role. We investigated the contribution of polymorphisms in two genes implicated in the ... ...

    Abstract The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but there is increasing evidence that common genetic variants may play a role. We investigated the contribution of polymorphisms in two genes implicated in the pathogenesis of colorectal cancer, cyclin D1 (CCND1) and E-cadherin (CDH1), to familial and sporadic forms of the disease. The CCND1 870A/G polymorphism is thought to affect the expression of CCND1 through mRNA splicing and has been reported to modify the penetrance of HNPCC. Inactivation of E-cadherin is common in colorectal cancer, and truncating germline mutations have been reported to confer susceptibility to colorectal as well as diffuse gastric cancer. The -160A/C CDH1 polymorphism appears to affect expression of CDH1 and may therefore also confer an increased risk. We found a significantly higher frequency of CCND1 870A allele in 206 familial cases compared to 171 controls (P=0.03). Odds ratios in heterozygotes and homozygotes were 1.7 (95% CI: 1.0-2.66) and 1.8 (95% CI: 1.0-3.3) respectively. The difference was accounted for by an over-representation of A allele in non-HNPCC familial cases (P=0.007). Over-representation of the CCND1 A allele was also seen in sporadic colorectal cancer cases compared to controls but this did not attain statistical significance (P=0.08). No significant differences between the frequency of CDH1 -160A/C genotypes in familial, sporadic colorectal cancer cases and controls were seen, although a possible association between the low expressing A allele and right-sided tumours was detected in familial cases.
    MeSH term(s) Cadherins/genetics ; Case-Control Studies ; Colorectal Neoplasms/genetics ; Cyclin D1/genetics ; DNA Mutational Analysis ; DNA Primers/chemistry ; DNA, Neoplasm/chemistry ; DNA, Neoplasm/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Risk Factors
    Chemical Substances Cadherins ; DNA Primers ; DNA, Neoplasm ; Cyclin D1 (136601-57-5)
    Language English
    Publishing date 2002-03-14
    Publishing country England
    Document type Clinical Trial ; Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
    ZDB-ID 639046-8
    ISSN 1476-5594 ; 0950-9232
    ISSN (online) 1476-5594
    ISSN 0950-9232
    DOI 10.1038/sj.onc.1205245
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