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Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)


Purpose of Review

Adolescents and young adults (AYAs) represent a unique patient cohort, straddling the realms of paediatric and adult medicine. AYA cancers may include traditionally “paediatric” cancers occurring at older than expected ages, or conversely, adult-onset cancers occurring at unusually young ages. Cancer incidence in AYAs (aged 15–39) is increasing, and disappointingly, survival data are worse than those in paediatric or older adult settings. Early recognition of underlying cancer predisposition syndromes (CPS) in AYAs may facilitate individualised therapies, initiation of tumour surveillance strategies and cascade testing in at-risk relatives. Increasingly, physicians together with the wider AYA multidisciplinary team recognise AYAs as a unique group that merit special considerations, particularly regarding the psychosocial impact of cancer and genetic diagnoses on self-identity, fertility and family planning.

Recent Findings

AYA referral rates for genetic evaluation are suboptimal, but are improving with expanded access to testing, increasing clinician awareness and increasing public demand for genomic investigation.


Herein, we outline recent developments in CPS testing in the AYA cohort. We highlight clinical tools useful in identifying patients that may warrant genetic counselling and/or genetic testing. We also discuss AYA-specific ethical and psychosocial challenges of genetic testing.

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American Association for Cancer Research


Acute lymphoblastic leukaemia


American Society of Clinical Oncology


Adolescent(s) and young adult(s)


Cancer predisposition syndrome(s)


Deoxyribonucleic acid


McGill Interactive Pediatric OncoGenetic Guidelines


Magnetic resonance imaging


National Health Service


United Kingdom


Variant of uncertain significance


Wilms tumour, aniridia, genitourinary anomalies, intellectual disability


Whole-body magnetic resonance imaging


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Correspondence to Terri P. McVeigh.

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Cullinan, N., Capra, M. & McVeigh, T.P. Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs). Curr Genet Med Rep 8, 61–71 (2020).

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  • Cancer predisposition syndromes
  • Adolescent and young adult
  • AYA
  • Hereditary cancer