NDLI: Germline mutations of TP53 gene in breast cancer

Content Provider	Springer Nature Link
Author	Damineni, Surekha Rao, Vadlamudi Raghavendra Kumar, Satish Ravuri, Rajasekar Reddy Kagitha, Sailaja Dunna, Nageswara Rao Digumarthi, Raghunadharao Satti, Vishnupriya
Copyright Year	2014
Abstract	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. None of the intronic mutations has shown significant association with the breast cancer, two exonic mutations G13203A (rs28934578) and A14572G are significantly (P = 0.04, P = 0.007) associated with breast cancer. Germline mutations observed in DNA-binding domain of the gene showed significant association with breast cancer. This study reports five novel germline mutations in the TP53 gene out of which one mutation may confer significant risk to the breast cancer. Mutations in DNA-binding domain of TP53 gene may play role in the early onset and prognosis of breast cancer. The population-based studies of germline mutations in DNA-binding domain of TP53 gene helps in identification of individuals and families who are at risk of developing cancers.
Starting Page	9219
Ending Page	9227
Page Count	9
File Format	PDF
ISSN	10104283
Journal	Tumor Biology
Volume Number	35
Issue Number	9
e-ISSN	14230380
Language	English
Publisher	Springer Netherlands
Publisher Date	2014-06-15
Publisher Place	Dordrecht
Access Restriction	Subscribed
Subject Keyword	TP53 Mutations DNA-binding domain Breast cancer Cancer Research
Content Type	Text
Resource Type	Article
Subject	Medicine Cancer Research

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