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  • 1
    Electronic Resource
    Electronic Resource
    Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis
    Amsterdam : Elsevier
    Genomics 13 (1992), S. 1162-1168 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0888-7543(92)90032-N
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  • 2
    Electronic Resource
    Electronic Resource
    Rapid Detection of Translation-Terminating Mutations at the Adenomatous Polyposis Coli (APC) Gene by Direct Protein Truncation Test
    Amsterdam : Elsevier
    Genomics 20 (1994), S. 1-4 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/geno.1994.1119
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  • 3
    Electronic Resource
    Electronic Resource
    Linkage studies on hereditary nonpolyposis colorectal cancer in the Netherlands
    Amsterdam : Elsevier
    Cancer Genetics and Cytogenetics 77 (1994), S. 171 
    Details
    ISSN: 0165-4608
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0165-4608(94)90322-0
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  • 4
    Electronic Resource
    Electronic Resource
    The value of screening and central registration of families with familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 227-230 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; National registry ; Screening ; Age at diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 1984 a national registry of families with familial adenomatous polyposis was set up in The Netherlands to promote screening in those families. Eighty-two families had been registered by the end of 1988. Analysis of the pedigrees showed that 204 family members at risk had not yet been screened. The diagnosis of familial adenomatous polyposis was histologically confirmed in 230 patients. These patients were subdivided into two groups. Group A comprised patients with familial adenomatous polyposis referred because they were symptomatic, and Group B relatives of these patients who were found by screening to have familial adenomatous polyposis. The authors compared these groups with respect to the occurrence of colorectal carcinoma. Fifty-four patients were found to have a colorectal carcinoma at the time of diagnosis of familial adenomatous polyposis,i.e.,49 of the 104 patients in Group A (47 percent) and five of the 126 patients in Group B (4 percent). The average age at diagnosis of the 104 patients in Group A was 35 years (range, 13 to 66 years) and that of the 126 patients in Group B was 24 years (range, 8 to 59 years). By the age of 40 years, 90 percent of the patients in group B had been diagnosed. Late onset of familial adenomatous polyposis was found in four families. Endoscopy and/or radiography of the upper digestive tract were (was) performed in 44 of the 230 patients. Nineteen patients (43 percent) were found to have polyps in the stomach or duodenum, or both. In our series, only one patient died from cancer of the upper digestive tract (ampullary carcinoma). These results show conclusively that screening leads to the early detection of familial adenomatous polyposis. The value of a national registry is proved by the finding of many at-risk family members who had not previously been screened. Screening should start between the ages of 10 and 12 and should continue up to the age of 50. In the rare cases of families with an apparently late onset of familial adenomatous polyposis, screening should be continued up to age 60. More studies are needed to determine the natural history of polyps in the upper digestive tract.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02134185
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  • 5
    Electronic Resource
    Electronic Resource
    The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) (1991)
    Springer
    Diseases of the colon & rectum 34 (1991), S. 424-425 
    Details
    ISSN: 1530-0358
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053699
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  • 6
    Electronic Resource
    Electronic Resource
    Duodenal adenomatosis in familial adenomatous polyposis (1995)
    Springer
    International journal of colorectal disease 10 (1995), S. 43-46 
    Details
    ISSN: 1432-1262
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Afin d'évaluer la prévalence des adénomes duodénaux chez des sujets porteurs d'une polypose adénomateuse familiale, et établir le risque d'un développement d'un cancer, une étude multicentrique a été débutée an Danemark, Finlande, Hollande, Norvége et Suède, pays qui possèdent un registre national des polyposes avec un enregistrement le plus souvent complet. Les patients âgés de 20 ans ou plus seront examinés tous les deux ans par une gastro-duodénoscopie de 1990 à 2000. De multiples biopsies duodénales sont examinées par un seul pathologue par pays et les critères endoscopiques et histologiques de Spigelman ont été retenus. A la fin du mois d'août 1992, 312 patients dont l'âge moyen est de 37 ans (20 à 86) ont complété leur première endoscopie. Le duodénum a été examiné chez 310 patients dont 199 (64%) étaient porteurs d'adénomes duodénaux. Vingt-deux patients (11% de tous les patients porteurs d'adénomes duodénaux) étaient porteurs de polypes visibles à l'endoscopie. Un patient était porteur d'un adéno-carcinome asymptomatique. Le stade de Spigelman se péjorait de manière significative (P〈0.05) avec le temps qui s'écoule depuis le diagnostic de la FAP, ce qui peut suggérer un risque accru de cancers avec la durée d'évolution.
    Notes: Abstract In order to evaluate the prevalence of duodenal adenomas in familial adenomatous polyposis (FAP) and the risk of carcinoma development, a multicenter study was initiated in Denmark, Finland, Holland, Norway and Sweden, which have national polyposis registers with an almost complete registration. Patients aged 20 years or more are being examined with biennial gastroduodenoscopy during 1990–2000. Multiple duodenal biopsies are examined by one pathologist from each country, and the endoscopic and histological criteria of Spigelman have been adopted. At the end of August 1992, 312 patients with a median age of 37 years (range 20–86) had completed their first endoscopy. The duodenum was examined in 310 patients, of whom 199 (64%) had duodenal adenomas. Twenty-two patients (11% of all patients with duodenal adenomas) had no endoscopically visible polyps. One patient had an asymptomatic adenocarcinoma. The Spigelman stage worsened significantly (P〈0.05) with time from the diagnosis of FAP, which may suggest an increasing risk of carcinoma by time.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00337586
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  • 7
    Electronic Resource
    Electronic Resource
    A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli: implications for presymptomatic diagnosis (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 365-368 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two independent study-groups, one in Britain and the other in the United States, were the first to report linkage between APC and a TaqI restriction fragment length polymorphism (RFLP) at D5S71 (probe C11p11) on chromosome 5q. They found no recombinants in about 50 informative meioses. The same TaqI RFLP was found to be uninformative for linkage in 15 Dutch polyposis families. The recently reported four base-pair deletion polymorphism (DEL1) at D5S71 has raised the polymorphism information content of this marker from 0.17 to 0.40 in the Dutch population. Seven of 20 polyposis families screened for the DEL1 as well as the TaqI polymorphism gave a combined peak lod score of 5.68 with no recombinants in 37 informative meioses. These data, together with those so far reported in the literature, raise the peak lod score to 17.09 at a recombination fraction of 0.05, the 95% upper confidence limit being 0.09. In combination with the use of another informative marker, D5S81 (probe YN5.48) closely mapping on the other side of APC, the presymptomatic diagnosis of the disease can be made with more than 99.9% certainty. It has to be stressed, however, that the the possible existence of more than one polyposis locus cannot, as yet, be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201835
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  • 8
    Electronic Resource
    Electronic Resource
    The establishment of a polyposis register (1993)
    Springer
    International journal of colorectal disease 8 (1993), S. 34-38 
    Details
    ISSN: 1432-1262
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les consignes sont présentées pour l'établissement d'un registre Régional ou National des patients avec polypose adénomateuse familiale. Les recommandations détaillées sont basées sur les travaux des comités du “Leeds Castle Polyposis Group” et de “EuroFAP”. Les buts des registres Régionaux ou Nationaux des polyposes sont discutés et les stades de développement du registre sont passés en revu: l'assurance de probande, la construction de l'arbre généalogique, l'identification des familles des membres à risques et l'étude des membres à risques. Le problème de la confidentialité des faits est discuté.
    Notes: Abstract Guidelines are presented for the establishment of a regional or national register of patients with familial adenomatous polyposis. The detailed recommendations are based on the work in committees of the “Leeds Castle Polyposis Group” and the “EuroFAP”. The aims of national and regional polyposis registers are discussed, and the stages of development of a register are reviewed: Ascertainment of probands, construction of pedigrees, identification of family members at risk, and screening of members at risk. The problem of data confidentiality is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00341274
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  • 9
    Electronic Resource
    Electronic Resource
    Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22 (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 183-185 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fifteen apparently unrelated Dutch families with familial adenomatous polyposis (FAP) also known as familial polyposis coli (FPC; McKusick No. 17510) were screened for linkage with the DNA probe C11p11 localized on chromosome 5q21–22 and previously reported to be closely linked to FAP (Bodmer et al. 1987; Leppert et al. 1987). In our study C11p11 was minimally informative, which is ascribable to its low heterozygosity in the North European populations. Of the above families, 12 were investigated also for linkage with D5S37 (DNA probe Pi227). Data from 11 of them were found to be informative and showed that FAP is closely linked to D5S37 previously localized on chromosome 5q21 (peak lod score 7.85 at a recombination fraction of 0.048 with 95% probability limits 0.005–0.145). Results discussed below indicate for the first time that the most likely location of the FAP gene is in the band 5q22 very close to 5q21, if not in the transitional zone between these two bands. The probe Pi227 recognizes 4 restriction fragment length polymorphism (RFLP) sites, exhibiting a total of 9 alleles with 24 theoretically possible haplotypes in the Dutch population. Therefore, this probe appears to have potential as a generally useful predictive marker for FAP until much closer and similarly useful markers become available.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280563
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  • 10
    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
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