Details of Disease | DrugMAP

General Information of Disease (ID: DISR64XA)

Disease Name	Li-Fraumeni syndrome
Synonyms	LFS3; SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland); Li-Fraumeni-like syndrome; sarcoma family syndrome of 51 and Fraumeni; sarcoma family syndrome of Li and Fraumeni; LFS1; sarcoma, breast, leukemia and adrenal gland syndrome; Li-Fraumeni familiar cancer susceptibility syndrome; Li Fraumeni syndrome; Li-Fraumeni syndrome caused by mutation in TP53; SBLA syndrome; Li-Fraumeni syndrome; TP53 Li-Fraumeni syndrome; Li-Fraumeni familial cancer susceptibility syndrome; LFS; sarcoma, breast, leukaemia and adrenal gland syndrome
Definition	A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC).
Disease Hierarchy	DISD715V: Hereditary neurological disease DISGXLG5: Hereditary neoplastic syndrome DIS3HIWD: Autosomal dominant disease DISR64XA: Li-Fraumeni syndrome
Disease Identifiers	MONDO ID MONDO_0018875 MESH ID D016864 UMLS CUI C0085390 OMIM ID 151623 MedGen ID 88399 Orphanet ID 524 SNOMED CT ID 428850001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TOP2B	TT4NVEM	Disputed	Genetic Variation	[1]
CDKN2A	TTFTWQ8	Definitive	Genetic Variation	[2]
CHEK2	TT9ABMF	Definitive	Autosomal dominant	[3]
TP53	TT7SBF5	Definitive	Autosomal dominant	[4]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DOCK11	OTFSTN6A	Limited	Biomarker	[5]
CPSF6	OTM6QYNQ	Disputed	Biomarker	[6]
CREG1	OTRHJ8HK	Disputed	Biomarker	[7]
DNA2	OT4DJFFU	Disputed	Genetic Variation	[1]
PLXNA3	OTMZIBVG	Disputed	Biomarker	[8]
RBM17	OT9ROJCL	Disputed	Biomarker	[1]
RECQL4	OT59LSW7	Disputed	Genetic Variation	[9]
ANKRD26	OT2ENKKV	Strong	Genetic Variation	[10]
DDX41	OT6KEIHP	Strong	Genetic Variation	[10]
RNASE3	OTVE2XD1	Strong	Genetic Variation	[11]
RPS19	OTBKGP48	Strong	Genetic Variation	[10]
SRP72	OTPV73W7	Strong	Genetic Variation	[10]
CHEK2	OT8ZPCNS	Definitive	Autosomal dominant	[3]
TP53	OTIE1VH3	Definitive	Autosomal dominant	[4]
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⏷ Show the Full List of 14 DOT(s)

References

1	Methylation profile of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma.World J Gastroenterol. 2004 Dec 1;10(23):3433-40. doi: 10.3748/wjg.v10.i23.3433.
2	Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.J Med Genet. 2017 Sep;54(9):607-612. doi: 10.1136/jmedgenet-2016-104402. Epub 2017 Jun 7.
3	Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. Cancer Res. 2001 Nov 15;61(22):8062-7.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5	A germ line mutation in exon 5 of the p53 gene in an extended cancer family.Cancer Res. 1991 Dec 1;51(23 Pt 1):6385-7.
6	POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins.Nucleic Acids Res. 2017 Jan 4;45(D1):D104-D114. doi: 10.1093/nar/gkw888. Epub 2016 Oct 5.
7	CREG1 enhances p16(INK4a) -induced cellular senescence.Cell Cycle. 2011 Feb 1;10(3):518-30. doi: 10.4161/cc.10.3.14756. Epub 2011 Feb 1.
8	A database of germline p53 mutations in cancer-prone families.Nucleic Acids Res. 1998 Jan 1;26(1):214-5. doi: 10.1093/nar/26.1.214.
9	RECQL4 and p53 potentiate the activity of polymerase and maintain the integrity of the human mitochondrial genome.Carcinogenesis. 2014 Jan;35(1):34-45. doi: 10.1093/carcin/bgt315. Epub 2013 Sep 25.
10	Hereditary myeloid malignancies.Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3.
11	Abnormal pattern of post-gamma-ray DNA replication in radioresistant fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome.Br J Cancer. 1995 Jun;71(6):1221-30. doi: 10.1038/bjc.1995.237.