[PDF][PDF] Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy

KM Farncombe, D Wong, ML Norman… - The American Journal of …, 2023 - cell.com
At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic
germline genetic variant (hereditary cancer syndrome—HCS). These individuals are …

[HTML][HTML] Early Cancer Detection in Li–Fraumeni Syndrome with Cell-Free DNA

D Wong, P Luo, LE Oldfield, H Gong, L Brunga… - Cancer Discovery, 2024 - AACR
Abstract People with Li–Fraumeni syndrome (LFS) harbor a germline pathogenic variant in
the TP53 tumor suppressor gene, face a near 100% lifetime risk of cancer, and routinely …

Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders

L Ongie, HA Raj, KB Stevens - Current Hematologic Malignancy Reports, 2023 - Springer
Abstract Purpose of Review Telomere biology disorders (TBDs) encompass a spectrum of
genetic diseases with a common pathogenesis of defects in telomerase function and …

Adolescent and young adult understanding of their childhood cancer predisposition diagnosis: a qualitative study

KMH Sharp, A Blake, J Flynn, S Brown, J Rashed… - The Journal of …, 2023 - Elsevier
We characterized germline genetic test result understanding in adolescents and young
adults (AYAs)(n= 21) with cancer 1-3.9 years post-disclosure using semistructured …

Cancer predisposing syndromes in childhood and adolescence pose several challenges necessitating interdisciplinary care in dedicated programs

S Kaffai, D Angelova-Toshkin, AB Weins… - Frontiers in …, 2024 - frontiersin.org
Introduction Genetic disposition is a major etiologic factor in childhood cancer. More than
100 cancer predisposing syndromes (CPS) are known. Surveillance protocols seek to …

[HTML][HTML] The need for tumor surveillance of children and adolescents with cancer predisposition syndromes: A retrospective cohort study in a tertiary-care children's …

S Huber, M Schimmel, D Dunstheimer… - European Journal of …, 2022 - Springer
Expert recommendations for the management of tumor surveillance in children with a variety
of cancer predisposition syndromes (CPS) are available. We aimed (1) at identifying and …

Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome

RF Shepherd, LA Keogh, A Werner-Lin… - Australian Journal of …, 2021 - search.informit.org
Background and objective: Discussing population-based cancer risk and screening is
common in general practice. Patients with an inherited cancer syndrome, however, may …

[PDF][PDF] Mark Basik, 4, 5 Yvonne Bombard, 6, 7 Victoria Carile, 8 Lesa Dawson, 9, 10 William D. Foulkes, 8, 11 David Malkin, 12, 13, 14 Aly Karsan, 15 Patricia Parkin …

KM Farncombe, D Wong, ML Norman… - The American Journal of …, 2023 - edimo.gr
At least 5% of cancer diagnoses are attributed to a causal pathogenic or likely pathogenic
germline genetic variant (hereditary cancer syndrome—HCS). These individuals are …

Models of care and the advanced practice nurse role in caring for children and adolescents with a cancer predisposition syndrome: a scoping review protocol

AM Grant, C Signorelli, N Taylor… - JBI Evidence …, 2023 - journals.lww.com
Objective: This scoping review will examine the literature describing models of care, barriers
and facilitators of care, and gaps in care delivery for children and adolescents with a cancer …

Whole‐body MRI for cancer surveillance in ataxia–telangiectasia: A qualitative study of the perspectives of people affected by A‐T and their families

R Neves, BDD Perez, T Tindall… - Health …, 2023 - Wiley Online Library
Abstract Background/Objectives Ataxia–telangiectasia (A‐T) is a complex inherited disease
associated with an increased risk of malignancy. Surveillance guidelines have …