Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.

ABSTRACT:

Background

Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis is important for patients' psychological status, as well as for clinical management, genetic counseling and possible prenatal family planning.

Methods

In this study, peripheral blood genomic DNA samples from a Chinese PJS family with a high cancer risk were examined for STK11 mutations using Sanger sequencing and MLPA analysis. Furthermore, prenatal PJS testing f

SUBMITTER: Wang Z 

PROVIDER: S-EPMC5930790 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature