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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

https://arctichealth.org/en/permalink/ahliterature208635
Source
Nat Genet. 1997 May;16(1):64-7
Publication Type
Article
Date
May-1997
Author
D. Liaw
D J Marsh
J. Li
P L Dahia
S I Wang
Z. Zheng
S. Bose
K M Call
H C Tsou
M. Peacocke
C. Eng
R. Parsons
Author Affiliation
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Source
Nat Genet. 1997 May;16(1):64-7
Date
May-1997
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - diagnosis - genetics
DNA Mutational Analysis
Female
Genes, Tumor Suppressor - genetics
Germ-Line Mutation
Hamartoma Syndrome, Multiple - genetics
Humans
Male
PTEN Phosphohydrolase
Pedigree
Phosphoric Monoester Hydrolases
Polymorphism, Genetic
Protein Tyrosine Phosphatases - genetics
Tumor Suppressor Proteins
Abstract
Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the breast, thyroid and skin. Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associated with macrocephaly, ataxia and dysplastic cerebellar gangliocytomatosis. The common feature of these diseases is a predisposition to hamartomas, benign tumours containing differentiated but disorganized cells indigenous to the tissue of origin. Linkage analysis has determined that a single locus within chromosome 10q23 is likely to be responsible for both of these diseases. A candidate tumour suppressor gene (PTEN) within this region is mutated in sporadic brain, breast and prostate cancer. Another group has independently isolated the same gene, termed MMAC1, and also found somatic mutations throughout the gene in advanced sporadic cancers. Mutational analysis of PTEN in CD kindreds has identified germline mutations in four of five families. We found nonsense and missense mutations that are predicted to disrupt the protein tyrosine/dual-specificity phosphatase domain of this gene. Thus, PTEN appears to behave as a tumour suppressor gene in the germline. Our data also imply that PTEN may play a role in organizing the relationship of different cell types within an organ during development.
PubMed ID
9140396 View in PubMed
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Multicenter study of strains of respiratory syncytial virus.

https://arctichealth.org/en/permalink/ahliterature226594
Source
J Infect Dis. 1991 Apr;163(4):687-92
Publication Type
Article
Date
Apr-1991
Author
L J Anderson
R M Hendry
L T Pierik
C. Tsou
K. McIntosh
Author Affiliation
Division of Viral and Rickettsial Diseases, Centers for Disease Control, Atlanta, Georgia.
Source
J Infect Dis. 1991 Apr;163(4):687-92
Date
Apr-1991
Language
English
Publication Type
Article
Keywords
Antigens, Viral - analysis
Canada
Child
Child, Preschool
Fluorescent Antibody Technique
Humans
Immunoenzyme Techniques
Infant
Respiratory Syncytial Viruses - classification - immunology - isolation & purification
Respirovirus Infections - microbiology
United States
Abstract
Two major groups of respiratory syncytial virus (RSV) strains, A and B, have been identified and their patterns of isolation determined in different communities but not simultaneously in multiple communities. In this study, we tested 483 RSV isolates from 14 university laboratories in the United States and Canada for the 1984/1985 and 1985/1986 RSV seasons; 303 (63%) isolates were group A, 114 (24%) were group B, and 66 (14%) could not be grouped. Isolates were subdivided into six subgroups within group A and three within group B; up to six and often four or more different subgroups were isolated in the same laboratory during the same RSV season. The pattern of group and subgroup isolations varied among laboratories during the same year and between years for the same laboratory. These differences suggest that RSV outbreaks are community, possibly regional, but not national phenomena. The ability to identify group and subgroup differences in isolates is a powerful tool for epidemiologic studies of RSV.
PubMed ID
2010623 View in PubMed
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