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With recent advancements in genomics, rare genetic variants attract the attention of cancer researchers as they represent one among the many diverse mechanisms that determine cancer risk and outcome. One such rare variant is the Single Nucleotide Polymorphism rs78378222 that alters the polyadenylation signal (AATAAA to AATACA) of TP53. Initially identified in Caucasian population, the variant ‘C’ allele was associated with an increased risk for prostate cancer, brain cancer and colorectal adenoma but not with colorectal cancer, breast cancer and melanoma (Stacey et al., 2011). Further, the risk allele impaired the proper termination of TP53 resulting in ‘cancer promoting’ longer mRNA transcripts that hindered p53 expression and its downstream functions in apoptosis (Stacey et al., 2011; Li et al., 2013). Simultaneously it was reported that rs78378222 increased the risk of esophageal cancer in Han Chinese population (Zhou et al., 2012). A similar study based on Caucasian population, showed that the rare variant was associated with risk for glioma and also significantly improved survival in patients (Egan et al., 2012). However, the association to survival was not observed in glioma patients of Northern European ancestry although it increased glioma risk (Enciso-Mora et al., 2013). A recent study showed that the heterozygous ‘AC’ genotype was not associated with melanoma and lung cancer, but had a protective role against squamous cell carcinoma of head and neck in non-Hispanic whites (Guan et al., 2013). Given the multitude of effects of rs78378222 in cancer patients of different ethnicity and on account of paucity of information on ‘C’ allele frequency in Indian population, we genotyped 439 genomic DNA samples from oral (108), cervical (96) and breast (235) cancer patients of Indian ethnicity. Blood samples were collected from Government Royapettah Hospital & Government Kasturba Gandhi Hospital for Women and Children, Chennai and clinical information from subjects was undertaken with informed consent and relevant ethical review board approval was accorded. We adopted the PCR-RFLP methodology described by Zhou et al (2012), with a single base mismatch in reverse primer creating a Hind III recognition site when the wild type A allele is present (Figure 1). The RFLP results were confirmed by direct sequencing of 10% of case/control samples chosen at random (Figure 2). We found that the ‘C’ allele was totally absent in cancer samples. We also genotyped 504 healthy controls LETTER to the EDITOR

Absence of the TP53 Poly-A Signal Sequence Variant rs78378222 in Oral, Cervical and Breast Cancers in South India