Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

ABSTRACT:

Background

SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously.

Methods

We looked for germline SMARCA4 alterations in eight patients with the SCCHT. DNA was extracted from probands' and their relatives' blood. The SMARCA4 coding sequence, previously found altered in all the tumors, was PCR amplified and sequenced in the germline DNA.

Results

Two patients carried a heterozygous germline SMARCA4 alteration: c.3760G > T and c.2352insG, respectively. The analysis of the probands' next of kins revealed that the c.3760G > T mutation was inherited by the proband and her sister from their father, and the sisters' four children also ca

SUBMITTER: Moes-Sosnowska J 

PROVIDER: S-EPMC4365965 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature