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. 2022 Jul;24(7):843-860.
doi: 10.1007/s11912-022-01213-3. Epub 2022 Mar 23.

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group

Angela Toss #  1   2 , Paola Quarello #  3   4 , Maurizio Mascarin  5 , Giuseppe Luigi Banna  6 , Marco Zecca  7 , Saverio Cinieri  8 , Fedro Alessandro Peccatori #  9 , Andrea Ferrari #  10
Affiliations

Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group

Angela Toss et al. Curr Oncol Rep. 2022 Jul.

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.

Keywords: Adolescents; Cancer; Predisposition genes; Young adults.

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Conflict of interest statement

Angela Toss declares that she has no conflict of interest. Paola Quarello declares that she has no conflict of interest. Maurizio Mascarin has received compensation for advisory role from Merck Sharp & Dohme. Giuseppe Luigi Banna has received compensation for service as a consultant from AstraZeneca and Astellas, has received speaker’s honoraria from AstraZeneca and Astellas, and has received reimbursement for travel/accommodations from AstraZeneca. Marco Zecca declares that he has no conflict of interest. Saverio Cinieri declares that she has no conflict of interest. Fedro Alessandro Peccatori declares that he has no conflict of interest. Andrea Ferrari declares that he has no conflict of interest.

Figures

Fig. 1
Fig. 1
From the tumor to the gene. The figure represents the principal predisposition genes associated with increased risk of cancer in each organ and apparatus
See this image and copyright information in PMC

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