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Genotype-phenotype correlations in attenuated adenomatous polyposis coli

Article Abstract:

Genotype-phenotype correlations exist in attenuated adenomatous polyposis coli (AAPC), a variant of familial adenomatous polyposis (FAP). A study of such correlations in AAPC families has been carried out. Germ line mutations of the tumor suppressor APC are implicated in AAPC. It appears that in AAPC families, the location of the APC mutation may to some degree predict phenotypic expression. This may be helpful in setting up clinical-management protocols.

Author: Gallinger, Steven, Bapat, Bharati, Cheng, Hong, Madlensky, Lisa, Cohen, Zane, Soravia, Claudio, Berk, Terri, Mitri, Angela
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Canada, Tumor suppressor genes, Polyposis, Familial, Familial polyposis

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A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2

Article Abstract:

A gene for a predisposition to familial thyroid tumors with cell oxyphilia, a new entity of familial nonmedullary thyroid cancer (FNMTC), has been mapped to chromosome 19p13.2 through study of a French pedigree showing multiple multinodular goiter cases and NMTC. Likely relative of those affected with sporadic NMTC with cell oxyphilia should be studied carefully.

Author: Bonneau, Dominique, Canzian, Federico, Amati, Patrizia, Harach, H. Ruben, Kraimps, Jean-Louis, Lesueur, Fabienne, Barvier, Jacques, Levillain, Pierre, Romeo, Giovanni
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
United States, Statistical Data Included, Thyroid cancer

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Subjects list: Research, Usage, Genetic aspects, Chromosome mapping, Genetic disorders
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