Neurology Medical News about mutation carriers;heterozygous Parkin mutations;healthy subjects

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Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers
Parkinsonism & Related Disorders, 06/26/09

Brüggemann N et al. – Elucidation of the role of heterozygosity is key for genetic testing and counseling of mutation carriers. A detailed clinical prospective and follow-up examination of mutation carriers is required for a better understanding of the role of heterozygous Parkin mutations.

Methods

Study of mutations in all 12 Parkin exons in 356 controls from 2 European populations (South Tyrol and Germany)

Results

None homozygous or compound heterozygous mutation in controls
Rare heterozygous alterations in 17 carriers
Of 17 carriers, 13 (13/356; 3.7%) protein structure alterations; 4 different gene dosage alterations, 4 missense mutations, and 2 frameshift mutation
South Tyrolean population: 2 recurrent mutations
No obvious difference in mutation frequency between the 2 populations
Re-examination of 1 presumably healthy mutation carrier at age 67 yrs: mild signs of parkinsonism, not fulfilling diagnostic criteria for definite Parkinson disease

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Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin
Oncogene, 10/14/09 Relevance Score: 69%

The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers
Breast Cancer Research and Treatment, 11/04/09 Relevance Score: 68%

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Human Molecular Genetics, 11/03/09 Relevance Score: 68%

Somatosensory function in asymptomatic Parkin-mutation carriers
European Journal of Neurology, 10/27/09 Relevance Score: 68%

Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
Breast Cancer Research, 10/26/09 Relevance Score: 68%