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  • 1
    Electronic Resource
    Electronic Resource
    Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 386-390 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP). A candidate gene has been proposed, namely secretory phospholipase A2 (sPLA2). Increased tumor number in mice was correlated with low levels of sPLA2 expression and the presence of truncating mutations within the sPLA2 gene. In an attempt to determine whether any genetic alterations in the sPLA2 gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA2 in 97 polyposis coli patients presenting with various disease phenotypes, and its expression in 8 FAP patients displaying markedly different disease characteristics. In the current study no inactivating mutations in the sPLA2 gene were identified, suggesting that human sPLA2 is not associated with phenotypic variation in FAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050226
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  • 2
    Electronic Resource
    Electronic Resource
    Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 653-657 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050423
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  • 3
    Electronic Resource
    Electronic Resource
    Variant of the Fluorescence Pattern in an Abnormal Human Y Chromosome (1971)
    [s.l.] : Nature Publishing Group
    Nature 234 (1971), S. 348-348 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Our subject was a 36 yr old healthy man of normal body proportions, whose chromosomes were analysed because his first child, a female, had died with the clinical diagnosis of the trisomy 13 syndrome. His son, who is 4 yr old now and clinically healthy, has the same variant Y chromosome as the ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/234348a0
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  • 4
    Electronic Resource
    Electronic Resource
    Banding techniques in the evaluation of human chromosomal variants (1973)
    Springer
    Human genetics 〈Berlin〉 18 (1973), S. 123-128 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es werden 6 Fälle von Normvarianten menschlicher Chromosomen beschrieben, die mit verschiedenen. Färbemethoden (konventionellen und neuen banding-Methoden) untersucht wurden. Aus diesen Befunden kann geschlossen werden, daß die bekannten Variationen der Kurzarm-Satellitenregion der akrozentrischen Chromosomen hauptsächlich durch Längenunterschiede der Sekundärconstrictionen zustande kommen. Es wird ein kurzer Überblick über die Unterschiede in der Anfärbbarkeit derjenigen Chromosomenabschnitte gegeben, die bekannte Polymorphismen aufweisen.
    Notes: Summary 6 cases of human chromosomal variants are presented as observed with different staining methods (conventional staining and banding techniques). It is concluded that the well-known variations of the short arm-satellite region of acrocentric chromosomes is mainly due to differences in length of the secondary constrictions. A review of the staining differences of chromosome regions with known polymorphisms is presented.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291479
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  • 5
    Electronic Resource
    Electronic Resource
    A strongly fluorescing abnormal chromosome in a malformed child (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 64-66 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The case of a sexchromatin negative “girl” with multiple malformations is presented. A small metacentric chromosome was found to replace her second X chromosome, half of which was strongly fluorescing after staining with Quinacrinedihydrochloride, and late replicating after labelling with tritiated thymidine. The chromosome was interpreted as a translocation chromosome between the long arms of a Y and a partially trisomic autosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291035
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  • 6
    Electronic Resource
    Electronic Resource
    Fluorescence pattern of a dicentric Y (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 170-172 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Das Fluoreszenzmuster und die unterschiedliche Morphologie eines dizentrischen Y werden beschrieben. Fluoreszierende Körperchen wurden in Mundschleimhautabstrichen, Haarwurzelzellen und Blutausstrichen aus peripherem Blut beobachtet.
    Notes: Summary The different appearence of a dicentric Y, as shown with the fluorescence technique, is described, as well as the findings in cells of buccal mucosa, hairroots and peripheral blood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291474
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  • 7
    Electronic Resource
    Electronic Resource
    Cat-eye syndrome, a partial trisomy 22 (1972)
    Springer
    Human genetics 〈Berlin〉 15 (1972), S. 150-162 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über eine Familie berichtet, in der eine phänotypisch normale Mutter und ihre gesunde Tochter je ein abnormes Kind mit einem kleinen überzähligen Chromosom zur Welt gebracht hatten. Die Kinder hatten klinische Zeichen des Cat eye-Syndroms. Im Chromosomensatz beider Frauen war 1 G-Chromosom durch ein kleines submetazentrisches, satellitentragendes Chromosom ersetzt, dessen Fluorescenzumuster dem eines Chromosoms 22 entsprechen könnte. Das gleiche Muster wurde in dem überzähligen Chromosom bei einem der Kinder gefunden. Da eine totale G-Monosomie zusätzlich zu einer autosomalen Trisomie eines anderen Chromosoms nicht vereinbar ist mit vollkommener klinischer Unauffälligkeit, muß die Chromosomenanomalie der gesunden Mutter und Tochter als kleine Deletion 22 angesehen werden und die der abnormalen Kinder infolgedessen als partielle Trisomie 22. Aus diesen Befunden kann geschlossen werden, daß eine Deletion des Chromosoms 22 mit einem normalen Phänotyp vereinbar ist und daß, zumindest in dieser Familie, das Cat eye-Syndrom die Folge einer partiellen Trisomie 22 ist.
    Notes: Summary A family is presented in which a phenotypically normal mother and her healthy daughter both had abnormal children with a small supernumerary chromosome. Both had clinical symptoms suggestive of cat-eye syndrome. In both women 1 G-chromosome was found to be replaced by a small submetacentric satellited chromosome. Its fluorescence pattern was compatible with that of a chromosome 22, and so was the fluorescence pattern of the supernumerary chromosome in one of the phenotypically abnormal children. Since complete monosomy G in addition to partial autosomal trisomy would not be compatible with clinical “normality” the respective karyotypes must be interpreted as a small deletion of a chromosome 22 in the healthy mother and daughter and a partial trisomy 22 in their abnormal children. Therefore it can be concluded that a deletion of a chromosome 22 is compatible with a normal phenotype and that the cat-eye syndrome results, at least in this family, from a partial trisomy 22.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295742
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  • 8
    Electronic Resource
    Electronic Resource
    Surveillance in hereditary nonpolyposis colorectal cancer: An international cooperative study of 165 families (1993)
    Springer
    Diseases of the colon & rectum 36 (1993), S. 1-4 
    Details
    ISSN: 1530-0358
    Keywords: Surveillance ; Hereditary nonpolyposis colorectal cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract During its second meeting at Amsterdam in 1990, the International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) decided to carry out a pilot study on colorectal cancer surveillance in HNPCC. The objectives of the study were to ascertain in each of the participating centers the number of HNPCC families, the recommended screening procedures, the age at diagnosis of colorectal cancer (CRC), and the occurrence of interval cancers. Nine centers in seven countries including Denmark, Finland, Italy, Japan, The Netherlands, Switzerland, and the United States participated. Data were derived from a total of 165 families. With respect to screening, half of the centers advise colonoscopy as the only procedure. The interval between the consecutive examinations varies from one to three years. In the majority of the centers, screening begins at 20 to 25 years. Lifelong screening is recommended by three centers, while the rest advise discontinuation at age 60 to 75 years. The family material included 840 patients with colorectal cancer. The mean age at diagnosis was 45 years, and about 15 percent were diagnosed at age 60 or later. A total of 682 high-risk relatives are being followed. After the follow-up of 1 to 10 years in these families, only six cases of interval cancers were encountered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02050292
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  • 9
    Electronic Resource
    Electronic Resource
    Familial and histological analyses of 138 breast cancer patients (1987)
    Springer
    Breast cancer research and treatment 10 (1987), S. 159-167 
    Details
    ISSN: 1573-7217
    Keywords: familial breast cancer ; histological type ; tumor associations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A histological analysis was conducted in 138 female breast cancer patients, and the results were classified in accordance with “Histological Typing of Breast Tumours” (WHO, Geneva 1981). Since about half of these tumors showed more than one histological type of carcinoma, a simplified classification system with four groups was adopted. When patients were categorized according to the number and degree of kinship of their relatives with breast cancer, no specific association with the histological types was found. Familial tumors also encompassed a wide spectrum of histopathologic diagnoses. This suggests the absence of a histological marker in familial breast cancer. Pedigrees of all the patients were then analyzed, special emphasis being placed on relatives suffering from the same and other malignancies. It was found that 13.8% of the probands had at least one first-degree relative with breast cancer and that, compared with the tumor spectra in the male and female population, there was a significantly higher number of esophageal carcinomas in the fathers, of stomach cancers in the uncles and grandfathers, of brain tumors in the mothers, and of sarcomas in the brothers. An accumulation of the same tumors, especially stomach cancer and tumors related to the SBLA syndrome, was observed in families of index patients with tubular or medullary breast cancer. The SBLA syndrome is a complex familial cancer syndrome characterized by a proclivity toSarcomas,Breast cancers, brain tumors,Lung and laryngeal cancers, leukemia, andAdrenocortical carcinomas.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01810579
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  • 10
    Electronic Resource
    Electronic Resource
    Zur Heterogenität des Mammakarzinoms (1986)
    Springer
    Sozial- und Präventivmedizin 31 (1986), S. 221-223 
    Details
    ISSN: 1420-911X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Le cancer du sein est une maladie hétérogène. Cela devient apparent aussi dans des études de familles. Les familles de 116 femmes avec cancer du sein âgées de 50 ans et moins, au moment du diagnostic, étaient comparées aux familles de 161 femmes atteintes à l'âge de 51 ans et plus. Concernant l'apparition des cancers du sein dans la parenté, on remarque que les femmes atteintes plus jeunes avaient plus de parenté de second degré avec cancer du sein. Les femmes avec une anamnèse familiale positive étaient 10 ans plus jeunes que les femmes avec une anamnèse négative. L'anamnèse positive élève le risque de cancer du sein 4,3 fois chez la parenté du premier degré et 2,3 fois chez la parenté de second degré en comparaison avec la population générale. Ces résultats démontrent une hétérogénéité étiologique du cancer du sein.
    Abstract: Summary Breast cancer is in many aspects a heterogeneous disease. This becomes also evident in family studies. The families of 116 women with breast cancer with 50 years and less at diagnosis were compared to than of 161 breast cancer patients with 51 years and more with respect to breast cancer in the relatives. Younger breast cancer patients had more second degree relatives with breast cancer. Probands with a positive family history were on the average 10 years younger than probands with a negative family history. A positive family history incerases breast cancer risk by 4.3 times for first degree relatives and by 2.3 times for second degree relatives in comparison to the general population. These results point to an etiological heterogeneity of breast cancer.
    Notes: Zusammenfassung Das Mammakarzinom ist in vieler Hinsicht eine heterogene Tumorkrankheit. Dies wird auch bei Familienstudien offensichtlich. Das Vorkommen des Mammakarzinoms wurde in den Verwandtschaften von 116 Mammakarzinompatientinnen unter 50 Jahren bei Diagnosestellung mit demjenigen den Familien von 161 Mammakarzinompatientinnen über 50 Jahren verglichen. Jüngere Frauen mit Mammakarzinomen hatten mehr Verwandte 2. Grades mit Mammakarzinom. Die Probandinnen mit positiver Mammakarzinomfamilienanamnese waren durchschnittlich 10 Jahre jünger als die Probandinnen mit negativer Familienanamnese. Die positive Familienanamnese erhöht das Mammakarzinomrisiko für Verwandte 1. Grades um 4,3mal und für Verwandte 2. Grades um 2,3mal gegenüber der Durchschnittsbevölkerung. Diese Ergebnisse weisen auf eine aetiologische Heterogenität des Mammakarzinoms hin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02083463
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