BIOMAT Database Logo BIOMAT Database Logo

Novel p53 germline mutation in a patient with Li-Fraumeni syndrome. 2003

S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain
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
D016864 Li-Fraumeni Syndrome Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA. Li Fraumeni Syndrome
D018095 Germ-Line Mutation Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. Mutation, Germ-Line,Germline Mutation,Germ Line Mutation,Germ-Line Mutations,Germline Mutations,Mutation, Germ Line,Mutation, Germline,Mutations, Germ-Line,Mutations, Germline

Related Publications

S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome.
January 2018, American journal of cancer research,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies.
August 2002, Journal of cancer research and clinical oncology,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome.
October 2013, Molecular carcinogenesis,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
p53 germline mutations in Li-Fraumeni syndrome.
December 1991, Lancet (London, England),
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family.
June 1998, Human genetics,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer.
October 1999, Japanese journal of clinical oncology,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
Correction: a Li-Fraumeni syndrome p53 mutation.
February 1993, Science (New York, N.Y.),
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
[Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation].
January 2010, Annales de biologie clinique,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.
February 2013, Pediatrics international : official journal of the Japan Pediatric Society,
S S Wong, and G Lozano, and C L Gaff, and R J M Gardner, and L C Strong, and K Aittomäki, and G J Lindeman
A Novel Germline TP53 Mutation in a Patient With Li-Fraumeni Syndrome: Resolving a Variant of Uncertain Significance.
November 2021, Journal of pediatric hematology/oncology,
Copied contents to your clipboard!