Biomaterial Database

Genetic predisposition to cancer and familial cancer syndromes. 1997

S Quesnel, and D Malkin

Department of Medical Biophysics, Hospital for Sick Children, University of Toronto, Ontario, Canada.

Approximately 10% to 15% of childhood cancers are hereditary or familial in nature. For several genetic disorders, the development of cancer is a secondary manifestation of the clinical phenotype, whereas cancer predisposition syndromes are generally recognized by the manifestation of characteristic malignancies. The study of pediatric cancer and rare hereditary cancer syndromes and associations has led to the identification of numerous cancer genes that are known to play critical roles in both normal and abnormal cellular growth, differentiation, and proliferation. The potential to identify such genetic markers of cancer predisposition poses difficult social, legal, and ethical questions in their application to clinical practice.

UI	MeSH Term	Description	Entries
D009369	Neoplasms	New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.	Benign Neoplasm,Cancer,Malignant Neoplasm,Tumor,Tumors,Benign Neoplasms,Malignancy,Malignant Neoplasms,Neoplasia,Neoplasm,Neoplasms, Benign,Cancers,Malignancies,Neoplasias,Neoplasm, Benign,Neoplasm, Malignant,Neoplasms, Malignant
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001506	Beckwith-Wiedemann Syndrome	A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.	Wiedemann Syndrome,Wiedemann-Beckwith Syndrome,Wiedemann-Beckwith Syndrome (WBS),EMG Syndrome,Exomphalos-Macroglossia-Gigantism Syndrome,Beckwith Wiedemann Syndrome,EMG Syndromes,Exomphalos Macroglossia Gigantism Syndrome,Exomphalos-Macroglossia-Gigantism Syndromes,Syndrome, Beckwith-Wiedemann,Syndrome, EMG,Syndrome, Exomphalos-Macroglossia-Gigantism,Syndrome, Wiedemann,Syndrome, Wiedemann-Beckwith,Syndrome, Wiedemann-Beckwith (WBS),Wiedemann Beckwith Syndrome,Wiedemann Beckwith Syndrome (WBS),Wiedemann Syndromes,Wiedemann-Beckwith Syndromes (WBS)
D012175	Retinoblastoma	A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)	Glioblastoma, Retinal,Glioma, Retinal,Neuroblastoma, Retinal,Eye Cancer, Retinoblastoma,Familial Retinoblastoma,Hereditary Retinoblastoma,Sporadic Retinoblastoma,Cancer, Retinoblastoma Eye,Cancers, Retinoblastoma Eye,Eye Cancers, Retinoblastoma,Familial Retinoblastomas,Glioblastomas, Retinal,Gliomas, Retinal,Hereditary Retinoblastomas,Neuroblastomas, Retinal,Retinal Glioblastoma,Retinal Glioblastomas,Retinal Glioma,Retinal Gliomas,Retinal Neuroblastoma,Retinal Neuroblastomas,Retinoblastoma Eye Cancer,Retinoblastoma Eye Cancers,Retinoblastoma, Familial,Retinoblastoma, Hereditary,Retinoblastoma, Sporadic,Retinoblastomas,Retinoblastomas, Familial,Retinoblastomas, Hereditary,Retinoblastomas, Sporadic,Sporadic Retinoblastomas
D016147	Genes, Tumor Suppressor	Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.	Antioncogenes,Cancer Suppressor Genes,Emerogenes,Genes, Cancer Suppressor,Genes, Growth Suppressor,Genes, Metastasis Suppressor,Growth Suppressor Genes,Metastasis Suppressor Genes,Tumor Suppressor Genes,Anti-Oncogenes,Genes, Onco-Suppressor,Oncogenes, Recessive,Tumor Suppressing Genes,Anti Oncogenes,Anti-Oncogene,Antioncogene,Cancer Suppressor Gene,Emerogene,Gene, Cancer Suppressor,Gene, Growth Suppressor,Gene, Metastasis Suppressor,Gene, Onco-Suppressor,Gene, Tumor Suppressing,Gene, Tumor Suppressor,Genes, Onco Suppressor,Genes, Tumor Suppressing,Growth Suppressor Gene,Metastasis Suppressor Gene,Onco-Suppressor Gene,Onco-Suppressor Genes,Oncogene, Recessive,Recessive Oncogene,Recessive Oncogenes,Suppressor Gene, Cancer,Suppressor Gene, Growth,Suppressor Gene, Metastasis,Suppressor Genes, Cancer,Suppressor Genes, Growth,Suppressor Genes, Metastasis,Tumor Suppressing Gene,Tumor Suppressor Gene
D016158	Genes, p53	Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.	Genes, TP53,TP53 Genes,p53 Genes,Gene, TP53,Gene, p53,TP53 Gene,p53 Gene
D016160	Retinoblastoma Protein	Product of the retinoblastoma tumor suppressor gene. It is a nuclear phosphoprotein hypothesized to normally act as an inhibitor of cell proliferation. Rb protein is absent in retinoblastoma cell lines. It also has been shown to form complexes with the adenovirus E1A protein, the SV40 T antigen, and the human papilloma virus E7 protein.	Rb Protein,Retinoblastoma Nuclear Phosphoprotein p105-Rb,p105-Rb Protein,Rb Gene Product,Rb1 Gene Product,Retinoblastoma Nuclear Phosphoprotein p105 Rb,p105 Rb Protein
D017253	Neurofibromatoses	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)	Neurofibromatosis,Neurofibromatosis Type 3,Multiple Neurofibromas,Neurofibromatosis 3,Neurofibromatosis Syndrome,Multiple Neurofibroma,Neurofibroma, Multiple,Neurofibromas, Multiple,Neurofibromatosis 3s,Neurofibromatosis Syndromes,Neurofibromatosis Type 3s,Syndrome, Neurofibromatosis,Syndromes, Neurofibromatosis,Type 3, Neurofibromatosis