Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
  • Articles: DFG German National Licenses  (5)
  • 1995-1999  (5)
Source
  • Articles: DFG German National Licenses  (5)
Material
Years
Year
  • 1
    Electronic Resource
    Electronic Resource
    MSH2 genomic deletions are a frequent cause of HNPCC (1998)
    [s.l.] : Nature America Inc.
    Nature genetics 20 (1998), S. 326-328 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Hereditary non-polyposis colorectal cancer (HNPCC) is a common, autosomal dominant, cancer susceptibility condition characterized by early onset colorectal cancer. HNPCC is caused by germline mutations in one of five DNA mismatch repair genes (MMR): MSH2 (ref. 2), MLH1 (Refs 3,4), PMS1 (ref. ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/3795
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 539-544 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17. To this end, we performed a linkage study with 59 consecutively collected Dutch breast cancer families, including 16 with at least one case of ovarian cancer. We used an intake cut-off of at least three first-degree relatives with breast and/or ovarian cancer at any age. Significant evidence for linkage was found only among the 13 breast cancer families with a mean age at diagnosis of less than 45 years. An unexpectedly low proportion of the breast-ovarian cancer families were estimated to be linked to BRCA1, which could be due to a founder effect in the Dutch population. Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing. More recent work has indicated that RUL09 is probably due to BRCA2 (multipoint lod score of 1.17), while in families RUL47 and RUL49 a frameshift mutation in BRCA1 has been evidenced. Each of these two latter families contain an early-onset sporadic breast cancer patient, explaining their negative lod scores with 17q-markers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223866
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 727-734 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for most cases of FAP. Mutations at the 5′ end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous polyposis coli (AAPC). We identified a frameshift mutation in the 3′ part of exon 15, resulting in a stop codon at 1862, in a large Dutch kindred with AAPC. Western blot analysis of lymphoblastoid cell lines derived from affected family members from this kindred, as well as from a previously reported Swiss family carrying a frameshift mutation at codon 1987 and displaying a similar attenuated phenotype, showed only the wild-type APC protein. Our study indicates that chain-terminating mutations located in the 3′ part of APC do not result in detectable truncated polypeptides and we hypothesize that this is likely to be the basis for the observed AAPC phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050293
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 705-710 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gene. In a large FAP family, we identified a frameshift mutation located in the alternatively spliced region of exon 9. Phenotypic studies of affected family members showed that the clinical course of FAP was delayed, with gastrointestinal symptoms and death from colorectal carcinoma occurring on average 25 and 20 years later than usual, respectively. The numbers of colorectal adenomas differed markedly among affected individuals and the location of colorectal cancer lay frequently in the proximal colon. Our findings suggest that the exon 9 mutation identified in the pedigree is associated with late onset of FAP. The atypical phenotype may be explained by the site of the mutation in the APC gene. Analysis of the APC protein product indicated that the exon 9 mutation did not result in a detectable truncated APC protein. Given the location of the mutation within an alternatively spliced exon of APC, it is conceivable that normal APC proteins are produced from the mutant allele by alternative splicing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210303
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 528-533 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1–15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in vitro translation of the RT-PCR product pool was confirmed immunochemically to correspond to the mRNA isoforms, but not to represent products of internal initiation of translation. This observation is of particular relevance for the diagnostic protein truncation test (PTT), since this assay will pick up mRNA variants derived from physiological splice events, e.g., skipping of exons 9, 10A and 14. In vitro-translated proteins of reduced molecular weight were therefore detectable in healthy individuals. We extended this observation to the PTT of cDNA encompassing APC exons 1–14 of familial adenomatous polyposis patients. Knowledge of the normal polypeptide pattern seen in the diagnostic in vitro translation assay allowed us not only to identify translational stop mutations, but even to detect a splice acceptor mutation of exon 14 as a result of quantitative changes of the isoform pattern. Western immuno blot analysis on protein extracts of Epstein-Barr virus-immortalized lymphocytes of the same patients revealed that mutations accessible to the RT-PCR PTT yield intracellularly undetectable APC proteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050254
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...