Abstracts

Biological sciences

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

Article Abstract:

Neighboring-nucleotide effects on rates of germ-line single-base-pair substitution have been studied in human genes. Single-base pair substitutions logged in the Human Gene Mutation Database (HGMD) have been analyzed for nearest-neighbor effects on relative mutation rates. There were 7,271 different lesions in coding regions in 547 different human genes. A novel method was found for obtaining the estimates needed in iterative fashion and it corrects simultaneously for confounding effects of differential codon usage. It also corrects for amino acid replacement of different types being noticed clinically with different probabilities. Beyond the hypermutability of CpG base mutation rate, a locally confined, subtle influence of the DNA sequence surrounding on relative single-base-pair substitution rates was found. It went no farther than 2bp from the substitution site. Other findings were made as well.

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Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer?

Article Abstract:

Heritability of cellular radiosensitivity is discussed relative to whether or not it may be related to low-penetrance predisposition genes in breast cancer. Heritability of radiosensitivity has been studied in families of women with breast cancer and distribution of radiosensitivities in family members demonstrated ad trimodal distribution. Evidence from segregation analysis of 95 family members clearly indicates heritability of radiosensitivity, one major gene accounting for 82% of variance between family members. Data are consistent with a range of models.

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Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families

Article Abstract:

Genetic heterogeneity and penetrance analysis has been carried out for the BRCA1 and BRCA2 genes in 237 breast cancer families. In an estimated 52% of the families the disease was linked to BRCA1, and in 32% of the families it was linked to BRCA2. In 16% it was linked to neither gene. It would appear that other predisposing genes exist. In the breast-ovarian cancer families 81% were linked to BRCA1 and 14% to BRCA2. Families included in the study were chosen without considering cancers other than breast cancer. Each had at least four cases of breast cancer.

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