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High frequency of the cancer-predisposing TP53 mutation R337H in the population of south Brazil: evidence for a founder effect

✍ Scribed by S. Garritano; S. Landi; F. Gemignani; M. Olivier; G. Martel-Planche; R. Brentani; P. Ashton-Prolla; S. Tavtigian; P. Hainaut; M.I. Waddington Achatz


Book ID
119599094
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
85 KB
Volume
6
Category
Article
ISSN
1359-6349

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Detailed haplotype analysis at the TP53
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Due to patterns of migration, selection, and population expansion, founder effects are common among humans. In Southern Brazil, a recurrent TP53 mutation, p.R337H, is detected in families with cancer predisposition. We have used whole locus resequencing and high-density single nucleotide polymorphis