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

摘要: Adolescents and young adults (AYAs) represent a unique patient cohort, straddling the realms of paediatric adult medicine. AYA cancers may include traditionally “paediatric” occurring at older than expected ages, or conversely, adult-onset unusually ages. Cancer incidence in AYAs (aged 15–39) is increasing, disappointingly, survival data are worse those settings. Early recognition underlying cancer predisposition syndromes (CPS) facilitate individualised therapies, initiation tumour surveillance strategies cascade testing at-risk relatives. Increasingly, physicians together with wider multidisciplinary team recognise as group that merit special considerations, particularly regarding psychosocial impact genetic diagnoses on self-identity, fertility family planning. referral rates for evaluation suboptimal, but improving expanded access to testing, increasing clinician awareness public demand genomic investigation. Herein, we outline recent developments CPS cohort. We highlight clinical tools useful identifying patients warrant counselling and/or testing. also discuss AYA-specific ethical challenges