The Bloom's Syndrome Registry is comprised of most of the bona fide cases of Bloom's syndrome (BS) that have been recognized since 1954, when the condition first was described. The Registry was developed, and its maintenance in the coming years is proposed, primarily because of one particular clinical feature of the syndrome, to wit, cancer proneness. The Registry has become a vehicle for the surveillance of the world's BS population with respect to the incidence, age of onset, and distribution of types of neoplasia, in both affected homozygotes and in heterozygotes (carriers of the BS gene, who appear phenotypically normal). Already the data suggest that of the known recessively-transmitted genetic disorders that predispose to cancer BS does so most strongly. Furthermore, the distribution of types of cancers may be similar to that in the general population. Simultaneously, information on the natural course of BS (interesting in several ways) is being accumulated. Also, the family contacts provide a source of specimens, such as blood cells, tissue culture cell lines, and tumor DNA for use in other studies. In one respect, then, the Registry, in being a central repository for information on a affected families throughout the world, may be viewed as a research resource. Support is requested not for a research project in the usual sense but for maintenance of the Bloom's Syndrome Registry itself, i.e., to monitor a cancer-prone population, one that is small but unusually interesting for several disciplines (e.g., oncology, immunology, cytogenetics, and DNA metabolism).

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National Cancer Institute (NCI)
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Epidemiology and Disease Control Subcommittee 3 (EDC)
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New York Blood Center
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German, James; Sanz, Maureen M; Ciocci, Susan et al. (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat 28:743-53
German, J (1997) Bloom's syndrome. XX. The first 100 cancers. Cancer Genet Cytogenet 93:100-6
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Langlois, R G; Bigbee, W L; Jensen, R H et al. (1989) Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A 86:670-4
German, J; Takebe, H (1989) Bloom's syndrome. XIV. The disorder in Japan. Clin Genet 35:93-110
German, J (1988) Gonadal dimorphism explained as a dosage effect of a locus on the sex chromosomes, the gonad-differentiation locus (GDL). Am J Hum Genet 42:414-21
German, J; Schonberg, S; Caskie, S et al. (1987) A test for Fanconi's anemia. Blood 69:1637-41
Rosin, M P; German, J (1985) Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. Hum Genet 71:187-91