ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

Article Abstract:

The spectrum of 59 mutations in ATM found in ataxia-telangiectasia (A-T) patients in the British Isles has been reported. Of 51 mutations found in native British Isles families studied, 2 of 11 founder mutations brought a milder clinical phenotype relative to cerebellar degeneration and cellular features. In two A-T families, an ATM mutation that may be associated with a greater risk of breast cancer in both homozygotes and heterozygotes, even though there is a less severe A-T phenotype relative to the degree of cerebellar degeneration. The same mutation allows expression of full-length ATM protein at a level similar to that in people unaffected. Another 18 A-T people in 15 families have been studied. They developed, usually as children, lymphoma, lymphoma, preleukemic T-cell proliferation or Hodgkins and showed many types of ATM mutations. Also 25% of all A-T patients had in-fame deletions or missense mutation, many associated with expression of mutant ATM protein.

United Kingdom, Health aspects, Physiological aspects, Gene mutations, Gene mutation, Lymphomas, Leukemia, Ataxia

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Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer

Article Abstract:

Penetrances of BRCA1 1675delA and 1135insA are discussed as they relate to ovarian and breast cancer. Index cases for a study were found through a series of consecutive ovarian cancer and through a family cancer clinic and 20 of the patients had BRCA1 1675 delA, with 10 having 1135insA. RElatives were listed as having presence or absence of each of the cancers. No difference was found between the two mutations with respect to penetrance and expression. The disease began at age 30 and by age 50 48% of those with the mutation had one or both cancers with more ovarian than breast cancers recorded.

Norway, Statistical Data Included, Research, Usage, Ovarian cancer, Chromosome mapping, Genetic disorders

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