[HTML][HTML] The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms

JD Khoury, E Solary, O Abla, Y Akkari, R Alaggio… - leukemia, 2022 - nature.com
The upcoming 5th edition of the World Health Organization (WHO) Classification of
Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers …

Medulloblastoma

PA Northcott, GW Robinson, CP Kratz… - Nature reviews Disease …, 2019 - nature.com
Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours
of the cerebellum. Four subgroups of MB have been described (WNT, sonic hedgehog …

Cancer screening recommendations for individuals with Li-Fraumeni syndrome

CP Kratz, MI Achatz, L Brugieres, T Frebourg… - Clinical Cancer …, 2017 - AACR
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by
germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor …

[HTML][HTML] The landscape of genomic alterations across childhood cancers

SN Gröbner, BC Worst, J Weischenfeldt, I Buchhalter… - Nature, 2018 - nature.com
Pan-cancer analyses that examine commonalities and differences among various cancer
types have emerged as a powerful way to obtain novel insights into cancer biology. Here we …

[PDF][PDF] Comprehensive analysis of hypermutation in human cancer

BB Campbell, N Light, D Fabrizio, M Zatzman, F Fuligni… - Cell, 2017 - cell.com
We present an extensive assessment of mutation burden through sequencing analysis of>
81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused …

Germline KRAS mutations cause Noonan syndrome

S Schubbert, M Zenker, SL Rowe, S Böll, C Klein… - Nature …, 2006 - nature.com
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and
cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause∼ 50 …

[HTML][HTML] Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

SM Waszak, PA Northcott, I Buchhalter… - The Lancet …, 2018 - thelancet.com
Background Medulloblastoma is associated with rare hereditary cancer predisposition
syndromes; however, consensus medulloblastoma predisposition genes have not been …

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD'(C4CMMRD)

K Wimmer, CP Kratz, HFA Vasen, O Caron… - Journal of medical …, 2014 - jmg.bmj.com
Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer
predisposition syndrome that results from biallelic germline mutations in one of the four …

Childhood cancer predisposition syndromes—a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric …

T Ripperger, SS Bielack, A Borkhardt… - American journal of …, 2017 - Wiley Online Library
Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …