Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.
Curr Oncol Rep
; 24(7): 843-860, 2022 07.
Article
em En
| MEDLINE
| ID: mdl-35320498
ABSTRACT
PURPOSE OF REVIEW The present narrative systematic review summarizes current knowledge on germline gene mutations predisposing to solid tumors in adolescents and young adults (AYAs). RECENT FINDINGS:
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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
/
Neoplasias
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
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Systematic_reviews
Limite:
Adolescent
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Adult
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Humans
Idioma:
En
Revista:
Curr Oncol Rep
Assunto da revista:
NEOPLASIAS
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Itália