PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor.

ABSTRACT:

Background

Granulosa cell tumors are rare ovarian malignancies. Their characteristics include unpredictable indolent growth with malignant potential and late recurrence. Approximately 95% are of adult type. Recent molecular studies have characterized the FOXL2 402C > G mutation in adult granulosa cell tumor. Our previous case report showed that unique FOXL2 402C > G mutation and defective DNA mismatch repair system are associated with the development of adult granulosa cell tumor.

Findings

In this study, the DNA sequences of four genes, MSH2, MLH1, MSH6, and PMS2, in the DNA mismatch repair system were determined via direct sequencing to elucidate the exact mechanism for the development of this granulosa cell tumor. The results showed that two missense germline mutations, T4

SUBMITTER: Wang WC 

PROVIDER: S-EPMC5369012 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature