Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.

ABSTRACT:

Purpose

Pediatric germ cell tumors are rare, representing about 3% of childhood malignancies in children less than 15 years of age, presenting in neonates or adolescents with a greater incidence noted in older adolescents. Aberrations in primordial germ cell proliferation/differentiation can lead to a variety of neoplasms, including teratomas, embryonal carcinoma, choriocarcinoma, and yolk sac tumors.

Patients and methods

Three Finnish families with varying familial germ cell tumors were identified, and whole-genome sequencing was performed using an Illumina sequencing platform. In total, 22 unique subjects across the three families were sequenced. Family 1 proband (female) was affected by malignant ovarian teratoma, Family 2 proband (female) was affected by sacrococcygeal t

SUBMITTER: Crowgey EL 

PROVIDER: S-EPMC7335280 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature