Sequencing of SMAD4 somatic variation in patients with serous ovarian cancer

Objective: A previous study has indicated SMAD4 mutations identified in patients with serous ovarian cancer. The aim of study is to analyze the SMAD4 mutation in Chinese people with primary serous ovarian cancer and attempt to build the correlation between the genotype and clinical phenotype or parameters of clinical pathological; t. Materials and Methods: The authors collected 90 serous ovarian cancer cases with primary samples that were identified by pathologist. DNA was extracted from paraffin-embedded tumor tissues. The exon 2, 8, 9 and 11 of SMAD4 muta-tion hotspots were screened by Sanger sequencing. Results: The authors detected neither heterozygous mutations nor homozygous mu-tations in exon 2, 8, 9, and 11 of SMAD4 in 90 cases of serous ovarian cancer. However, they identified a single nucleotide polymorphism (SNP) (rs77389132) in the intron 2 regions and searched the ExAC website (http://exac.broadinstitute.org/) for the SNP at Chr18: 48573689 and allele is A/G. Conclusions: The mutational rate of exons 2, 8, 9, and 11 of SMAD4 in serous ovarian cancer may be rare in Chinese people with primary serous ovarian cancer. Therefore, Seeking SMAD4 mutation for ovarian cancer susceptible population and individual treatment still need further pursuing.

Serous ovarian cancer; SMAD4; Somatic variation; Clinico-pathological parameters.

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