Collaborative analysis of alpha-Synuclein gene promoter variability and Parkinson disease

Article Abstract:

A collaborative analysis is performed to determine whether allele-length variability in the dinucleotide repeat sequence (REP1) of the alpha-Synuclein (SNCA) gene promoter is associated with Parkinson disease susceptibility, whether SNCA promoter haplotypes are associated with Parkinson disease and whether REP1 variability modifies age at onset. The analysis demonstrates that SNCA REP1 allele-length variability is associated with an increased risk of Parkinson disease.

Analysis, Parkinson's disease, Parkinson disease, Allelomorphism, Alleles, Haplotypes

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Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency

Article Abstract:

A study is conducted to determine if cancer risks in Amsterdam-I criteria (AC-I) families with no apparent deficiency in DNA mismatch repair (MMR) are different from cancer risks in AC-I families with DNA MMR abnormalities. It was concluded that families who fulfill AC-I criteria but who have no evidence of a DNA MMR defect do not share the same cancer incidence as families with hereditary nonpolyposis colorectal cancer (HNPCC)-Lynch syndrome.

Cancer, Amsterdam, New York

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Genetic testing in an ethnically diverse cohort of high-risk women

Article Abstract:

The clinical predictions, spectrum, and frequency of BRCA1 and BRCA2 mutations in an ethnically diverse high-risk clinic population and the performance of the BRCAPRO statistical model in predicting the likelihood of a mutation are evaluated. The result supported the use of BRCAPRO and genetic testing for BRCA1 and BRCA2 mutations in the management of high-risk African American families.

Genetic screening, Genetic testing, African American women, BRCA mutations

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