Diagnostics

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Pediatric Cancers Panel

The Pediatric Cancers Panel is a comprehensive next-generation sequencing (NGS) panel that analyzes genes associated with increased risks for pediatric cancers.

Cancer affects approximately 1 in 285 individuals under the age of 20 (ACS, 2014). Although the majority of pediatric cancers are not related to heritable factors, approximately 5-10% have a genetic etiology (Zhang et al, 2015). Individuals who carry disease-causing genetic changes may be at significantly increased risk of cancer development, but the degree of risk and type of malignancy varies depending on the specific genet. Frequently, changes in genes that result in increased risks for pediatric cancer also predispose individuals to higher risk for malignancy at later stages of life.

Included Disorders

This panel includes genes associated with:

  • Ataxia Telangiectasia
  • Bloom syndrome
  • Basal cell nevus syndrome
  • Cowden syndrome
  • Dyskeratosis congenita
  • Familial adenomatous polyposis
  • Hereditary non-polyposis colorectal cancer (HNPCC)
  • Hereditary paraganglioma and pheochromocytoma syndrome
  • Li-Fraumeni Syndrome
  • Nijmegen breakage syndrome
  • Peutz-Jeghers syndrome
  • Retinoblastoma
  • Multiple endocrine neoplasia type 1 and 2
  • Neurofibromatosis type 1 and 2
  • Tuberous sclerosis complex
  • Von-Hippel-Lindau syndrome
  • Werner syndrome

Inheritance

The inheritance of genes included in the panel is typically autosomal dominant, although several of the genes on this panel are associated with recessive genetic conditions:

  • MLH1, MSH2, PMS2, and MSH6 are associated with constitutional mismatch repair deficiency
  • ATM is associated with ataxia telangiectasia
  • MUTYH is associated with MUTYH-associated polyposis
  • NBN is associated with Nijmegen breakage syndrome
  • BLM is associated with Bloom syndrome

GPC3 is inherited in an X-linked fashion.

Indications for Testing

  • A personal history of pediatric or adolescent cancer
  • A personal history of multiple primary cancers
  • A family history suggestive of a hereditary cancer syndrome, including multiple individuals on the same side of a family diagnosed with cancer, especially at ages below population averages
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of a hereditary cancer syndrome

Methodology

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering.

Included Genes (53)

ALK APC ATM AXIN2 BAP1 BLM BMPR1A CDC73 CDKN1C
CEBPA DICER1 DIS3L2 EPCAM EZH2 FH GATA2 GPC3 HRAS
MAX MEN1 MLH1 MSH2 MSH6 NBN NF1 NF2 PHOX2B
PMS2 PRKAR1A PTCH1 PTEN RB1 RECQL4 RET RUNX1 SDHA
SDHAF2 SDHB SDHC SDHD SMAD4 SMARCB1 STK11 SUFU TERC
TERT TMEM127 TP53 TSC1 TSC2 VHL WRN WT1

References:

  • American Cancer Society (ACS). Special Section: Cancer in Children & Adolescents. Cancer Facts & Figures. 2014.
  • Zhang J, Walsh MF, Wu G, et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. N Engl J Med. 2015;373(24):2336-46.