Modification of BRCA1 (ital)-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat

Article Abstract:

Women who inherit a germline mutation in the BRCA1 (ital) gene have much greater risk of developing breast cancer than others, but there is considerable variation in occurrence of the cancer in those carrying the mutation. Other genes are hypothesized to affect the BRCA-1 (ital)-associated breast cancer risk. Those involved in endocrine signaling are thought to be especially important in the modification of risk. The CAG repeat-length polymorphism in exon 1 of the androgen-receptor (AR) gene, (AR-CAG), has been studied. AR alleles with longer CAG repeat lengths go with less ability to activate androgen-responsive genes. AR-CAG was compared in 165 women with breast cancer and 139 without it. Women had significantly increased risk of breast cancer if they had one or more AR alleles with no fewer than 28 CAG repeats. It seems pathways that involve androgen signaling may affect risk of BRCA1 (ital)-associated breast cancer.

Breast cancer

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Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD (ital) gene encoding the bifunctional protein pterin -4a carbinolamine dehydratase and transcriptional coactivator (DCoH)

Article Abstract:

Hyperphenylalaninemia (HPA) and persisting high urinary levels of primapterin (7-biopterin) may be the result of autosomal recessive inheritance of mutations in the PCBD (ital) gene affecting dehydratase activity. Pterin-4a-carbinolamine dehydratase (PCD) is necessary for efficient tetrahydrobiopterin regeneration after phenylalanine hydroxylase activity. The function may be defective in newborns with a mild type of HPA and persisting high urinary levels of primapterin (7-biopterin). The same protein also regulates DCoH, a coactivation of transcription by hepatocyte nuclear factor 1 alpha. In the HPA patients the function is seemingly not impaired. The PCBD (ital) gene has been examined for mutations at the genomic level in six such HPA patients from four families. Single homozygous nucleotide alterations in exon 4 were found in all and they were inherited from parents.

Switzerland, Genetic regulation, Genetic transcription, Transcription (Genetics), Phenylalanine

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OA1 (ital) mutations and deletions in X-linked ocular albinism

Article Abstract:

Results of deletion and mutation screening of the full-length OA1 (ital) gene in 29 unrelated Australian and North American X-linked ocular albinism (OA) probands have been reported. Thirteen intragenic gene deletions were found and eight new missense mutations were identified. In all patients with nonocular phenotypic abnormalities detectable mutations were found. Five of the probands had additional nonocular phenotypic abnormalities. In X-linked ocular albinism (OA1), Nettleship-Falls type, patients low ocular pigmentation and visual acuity, foveal hypoplasia, nystagmus, and photodysphoria are found. Affected males usually have melanin macroglobules.

Australia, Abnormalities, Eye, Albinism, Eye abnormalities

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