作者
Surekha Damineni, Vadlamudi Raghavendra Rao, Satish Kumar, Rajasekar Reddy Ravuri, Sailaja Kagitha, Nageswara Rao Dunna, Raghunadharao Digumarthi, Vishnupriya Satti
发表日期
2014/9
期刊
Tumor Biology
卷号
35
页码范围
9219-9227
出版商
Springer Netherlands
简介
Germline alterations of the TP53 gene encoding the p53 protein have been observed in the majority of families with the Li–Fraumeni syndrome, a rare dominantly inherited disorder with breast cancer. Genomic DNA samples of 182 breast cancer cases and 186 controls were sequenced for TP53 mutations in the exon 5–9 and intervening introns 5, 7–9. Direct sequencing was done using Applied Biosystem 3730 DNA analyzer. In the present study, we observed nine mutations in the sequenced region, of which five were novel. Hardy-Weinberg equilibrium (HWE) was done for all the mutations; C14181T, T14201G, and G13203A have shown deviation from HWE. High linkage disequilibrium (LD) was observed between C14181T (rs129547788) and T14201G (rs12951053) (r 2 = 0.98.3; D′ = 1.00), whereas other observed mutations do not show strong LD with any of the other mutations …
引用总数
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学术搜索中的文章
S Damineni, VR Rao, S Kumar, RR Ravuri, S Kagitha… - Tumor Biology, 2014