Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.
Angela TossPaola QuarelloMaurizio MascarinGiuseppe Luigi BannaMarco ZeccaSaverio CinieriFedro Alessandro PeccatoriAndrea FerrariPublished in: Current oncology reports (2022)
AYAs with cancer represent a particular group of patients with specific challenging characteristics and yet unmet needs. A significant percentage of AYA patients carry pathogenic or likely pathogenic variants (PV/LPVs) in cancer predisposition genes. Nevertheless, knowledge on spectrum, frequency, and clinical implications of germline variants in AYAs with solid tumors is limited. The identification of PV/LPV in AYA is especially critical given the need for appropriate communicative strategies, risk of second primary cancers, need for personalized long-term surveillance, potential reproductive implications, and cascade testing of at-risk family members. Moreover, these gene alterations may potentially provide novel biomarkers and therapeutic targets that are lacking in AYA patients. Among young adults with early-onset phenotypes of malignancies typically presenting at later ages, the increased prevalence of germline PV/LPVs supports a role for genetic counseling and testing irrespective of tumor type.
Keyphrases
- early onset
- end stage renal disease
- papillary thyroid
- genome wide
- copy number
- newly diagnosed
- ejection fraction
- chronic kidney disease
- healthcare
- prognostic factors
- squamous cell
- peritoneal dialysis
- gene expression
- late onset
- genome wide identification
- squamous cell carcinoma
- young adults
- public health
- dna methylation
- childhood cancer
- dna repair
- risk assessment
- bioinformatics analysis
- transcription factor
- risk factors
- hiv infected
- patient reported outcomes
- middle aged
- human health