Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

• Published in: Journal of medical genetics Vol. 42; no. 2; pp. 147 - 151
• Main Authors: Reid, S, Renwick, A, Seal, S, Baskcomb, L, Barfoot, R, Jayatilake, H, Pritchard-Jones, K, Stratton, M R, Ridolfi-Lüthy, A, Rahman, N
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.02.2005; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Alleles; Biological and medical sciences; Brain cancer; Brain Neoplasms - genetics; BRCA2; Breast Neoplasms - genetics; Cardiology. Vascular system; Child; familial Wilms tumour; Family medical history; Fanconi anaemia; Fanconi Anemia - genetics; Female; General aspects. Genetic counseling; Genes, BRCA2; Genetic Predisposition to Disease; Health risk assessment; Humans; Kidney Neoplasms - genetics; Kidneys; Letter to JMG; Male; Medical genetics; Medical sciences; medulloblastoma; Mutation; Nephrology. Urinary tract diseases; Pedigree; Siblings; Tumors of the urinary system; Wilms Tumor - genetics; Wilms tumour; Human; Kidney disease; Urinary system disease; Multiple; Family study; Malignancy; Malignant tumor; Association; Wilms tumor; Genetics; Mutation; Child; Tumor suppressor gene

FA is characterised by variable congenital abnormalities, short stature, bone marrow failure, hypersensitivity to DNA crosslinking agents, and a predisposition to haematological malignancies such as acute myeloid leukaemia in childhood. 5 FA is heterogeneous and consists of at least 11 complementati...