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; thus to explore the precise general theory for individual treatment of serous ovarian cancer. Materials and Methods: The authors collected 90 serous ovarian cancer cases with primary samples that were identified by pathologist. DNA was extracted from parafim-embedded tumor tissues. The exon 2, 8, 9 and 11 of SMAD4 mutation hotspots were screened by Sanger sequencing. Results: The authors detected neither heterozygous mutations nor homozygous mutations 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 marched 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.