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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
User Contributions:
Comment about this article or add new information about this topic:
- Abstracts: Classification of familial adenomatous polyposis: a diagnostic nightmare
- Abstracts: Power of association and linkage tests when the disease alleles are unobserved. Mapping genes that underlie ethnic differences in disease risk: methods for detecting linkage in admixed populations, by conditioning on parental admixture
- Abstracts: Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. Genetic association mapping based on discordant sib pairs: the discordant-alleles test
- Abstracts: Male infertility and the genetics of spermatogenesis. Genetic mapping of ossification of the posterior longitudinal ligament of the spine
- Abstracts: Insights from model systems: the yeast connection to Friedrich ataxia. Insights from model systems: genetic causes of female infertility: targeted mutagenesis in mice