Li-fraumeni Syndrome malady

MedlinePlus: Most women experience breast changes at some time. your age, hormone levels and medicines you take may cause lumps, bumps and discharges. if you have a breast lump, pain, discharge or skin irritation, see your health care provider. minor and serious breast problems have similar symptoms. although many women fear cancer, most breast problems are not cancer. some common causes of breast changes are fibrocystic breast condition - lumpiness, thickening and swelling, often associated with a woman's period cysts - fluid-filled lumps fibroadenomas - solid, round, rubbery lumps that move easily when pushed, occurring most in younger women intraductal papillomas - growths similar to warts near the nipple blocked or clogged milk ducts milk production when a woman is not breastfeeding injury nih: national cancer institute²³

MalaCards: Li-fraumeni Syndrome, also known as sarcoma family syndrome of li and fraumeni, is related to chronic lymphocytic leukemia and acute promyelocytic leukemia. An important gene associated with Li-fraumeni Syndrome is TP53 (tumor protein p53), and among its related pathways are Transcription P53 signaling pathway and Colorectal cancer. The drugs ifosfamide and isotretinoin and the compounds vincristine and ly294002 have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and adrenal gland, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

NIH Rare Diseases: Li-Fraumeni syndrome is a condition that greatly increases a person's likelihood of developing cancer, particularly at an unusually young age. Affected individuals also have an increased likelihood to develop more than one cancer during the lifetime. Cancers most often associated with Li-Fraumeni syndrome include sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, and cancer of the adrenal gland (adrenocortical carcinoma), though there may be an increased risk to develop other types of cancer as well. This condition is caused by mutations in the TP53 gene and is inherited in an autosomal dominant manner.³⁰

Genetics Home Reference: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.¹⁷

Wikipedia: Li–Fraumeni syndrome is an extremely rare autosomal dominant hereditary disorder. Named after...⁴⁴ more...

OMIM: 609265

GeneReviews summary for li-fraumeni

Aliases & Descriptions:

li-fraumeni syndrome 6 7 44 15 30 17 8 33 32 43 sarcoma family syndrome of li and fraumeni 44 30 17 breast diseases 32 23 43 sbla syndrome 44 15 17 sbla syndrome (sarcoma, breast, leukemia, and adrenal gland) 30 16 sarcoma, breast, leukemia, and adrenal gland (sbla) syndrome 44 17 li fraumeni syndrome 7 16 sarcoma 15 43

lfs 44 17 li-fraumeni familiar cancer susceptibility syndrome 6 leukemia,adrenal gland 15 li-fraumeni syndrome 1 43 breast disease 8 leukemia 43 breast 15 lfs1 30

Disease types for li-fraumeni syndrome family:

li-fraumeni syndrome 3

Diseases related to li-fraumeni syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1238)

id	Related Disease	Score	Top Affiliating Genes
1	chronic lymphocytic leukemia	37.7	BRCA2, BCL2, BAX, ATM, MDM2
2	acute promyelocytic leukemia	36.4	BCL2, CHEK2, BAX, CDKN1A
3	synovial sarcoma	35.8	MYCN, BCL2, MDM2, NF1
4	kaposi's sarcoma	35.5	RB1, BCL2, BAX, ATM, CDKN1A, MDM2
5	myelomonocytic leukemia	34.5	RB1, CDKN1A, TP53, PTEN, NF1
6	male breast cancer	34.4	BRCA1, BRCA2
7	juvenile myelomonocytic leukemia	34.0	TP53, PTEN, NF1
8	human t-cell leukemia virus type 1	33.9	RB1, BCL2, CHEK1, CHEK2, ATM, CDKN1A
9	prolymphocytic leukemia	33.4	CHEK2, ATM, TP53
10	estrogen-receptor positive breast cancer	33.2	BRCA1, BCL2, TP53
11	alveolar soft part sarcoma	33.2	MSH2, MLH1, TP53
12	hereditary breast ovarian cancer	33.0	BRCA1, BRCA2, CHEK2, TP53
13	t-cell prolymphocytic leukemia	33.0	CHEK2, ATM, TP53
14	uterine sarcoma	32.8	CDKN2A, MLH1, MDM2, PTEN
15	megakaryocytic leukemia	32.8	BCL2, CDKN1A, TP53
16	peripheral primitive neuroectodermal tumor	32.6	RB1, BCL2, CDKN2A
17	breast-ovarian cancer	32.4	RB1, BRCA1, BRCA2, BCL2, CHEK1, CHEK2
18	childhood leukemia	32.3	BCL2, BAX, CDKN1A, CDKN2A, MDM2, TP53
19	breast cancer susceptibility	32.2	BRCA1, BRCA2, BCL2, CHEK2, MSH2, ATM
20	soft tissue sarcoma	32.1	RB1, BCL2, BAX, MSH2, CDKN1A, CDKN2A
21	breast adenocarcinoma	32.0	RB1, BCL2, CHEK2, BAX, CDKN1A, TP53
22	bilateral breast cancer	31.7	BRCA1, BRCA2, CHEK2, ATM, MLH1, TP53
23	spindle cell sarcoma	31.5	BCL2, TP53, NF1
24	leukemia/lymphoma, t-cell	31.3	RB1, MYCN, BCL2, ATM, CDKN2A, MLH1
25	breast carcinoma in situ	31.3	BRCA1, BRCA2, TP53
26	ductal carcinoma in situ	31.1	RB1, BRCA1, BRCA2, BCL2, BAX, CDKN1A
27	myeloproliferative disorder	31.1	RB1, BCL2, MDM2, TP53, NF1
28	female breast cancer	31.1	BRCA2, BCL2, BAX, ATM, CDKN1A, TP53
29	mantle cell lymphoma	31.0	BCL2, ATM, MDM2
30	female breast carcinoma	31.0	BRCA1, CDKN2A, MLH1, TP53
31	sporadic breast cancer	31.0	RB1, BRCA1, BRCA2, CHEK1, CHEK2, MSH2
32	kidney clear cell sarcoma	30.9	MLH1, MDM2, TP53, PTEN
33	breast cancer	30.8	CHEK2, ATM
34	acute lymphoblastic leukemia, childhood	30.2	BAX, ATM, CDKN2A, MDM2
35	malignant peripheral nerve sheath tumor	30.2	CDKN2A, MDM2, NF1
36	natural killer cell leukemia	30.1	BCL2, TP53
37	colorectal cancer	29.8	CHEK2, MSH2, MLH1, TP53
38	breast cancer, somatic	29.6	BRCA1, ATM
39	rhabdoid tumors	29.4	MYCN, CDKN1A, CDKN2A, TP53
40	richter's syndrome	29.4	ATM, CDKN1A, CDKN2A
41	pilocytic astrocytoma	29.3	CDKN1A, CDKN2A, IDH1, TP53, PTEN, NF1
42	neuroectodermal tumors	29.0	RB1, MYCN, BCL2, MSH2, CDKN1A, CDKN2A
43	primary effusion lymphoma	28.8	BCL2, BAX, CDKN1A, CDKN2A, TP53, PTEN
44	malignant fibrous histiocytoma	28.6	RB1, BCL2, MSH2, CDKN2A, MDM2, TP53
45	burkitt's lymphoma	28.4	MYCN, BCL2, BAX, MDM2
46	adenoid cystic carcinoma	28.4	BCL2, CHEK2, BAX, CDKN2A, MDM2, TP53
47	brca1 and brca2 hereditary breast and ovarian cancer	28.3	BRCA1, BRCA2
48	adenoiditis	28.3	BCL2, CHEK2, BAX, CDKN2A, MDM2, TP53
49	angiosarcoma	28.3	BRCA1, CDKN2A, MDM2, TP53, PTEN
50	immunodeficiency	28.2	RB1, BRCA1, BCL2, CHEK1, BAX, ATM

Clinical features from OMIM: 609265

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 bleomycin, bleomycin sulfate, cytarabine, cytarabine liposome, doxorubicin hydrochloride, ifosfamide, irinotecan, irinotecan hydrochloride, isotretinoin, methotrexate, methotrexate sodium, mitoxantrone, mitoxantrone hydrochloride, pipobroman, thiotepa, vincristine, vincristine sulfate

Genetic tests related to li-fraumeni syndrome:

id	Genetic test	Affiliating Genes
1	Li-fraumeni Syndrome clinical/research	TP53

MalaCards organs/tissues related to li-fraumeni syndrome:

²²

MGI Mouse Phenotypes related to li-fraumeni syndrome:

²⁵ (show all 26)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.0	NF1, BRCA2, BRCA1
2	respiratory system phenotype	MP:0005388	9.8	NF1, MYCN, BRCA1
3	craniofacial phenotype	MP:0005382	9.7	MYCN, NF1
4	normal phenotype	MP:0002873	9.7	BRCA1, BRCA2, NF1
5	liver/biliary system phenotype	MP:0005370	9.4	NF1, TP53, MYCN
6	reproductive system phenotype	MP:0005389	8.5	TERC, MLH1, CHEK1, MYCN, BRCA2, BRCA1
7	immune system phenotype	MP:0005387	8.3	NF1, TERC, TP53, ATM, MSH2, CHEK2
8	adipose tissue phenotype	MP:0005375	7.9	PTEN, TERC, TP53, CDKN1A, BCL2, BRCA1
9	pigmentation phenotype	MP:0001186	7.8	NF1, PTEN, TERC, TP53, MDM2, CDKN2A
10	behavior/neurological phenotype	MP:0005386	7.8	NF1, PTEN, TERC, MDM2, CDKN1A, ATM
11	limbs/digits/tail phenotype	MP:0005371	7.4	NF1, PTEN, TERC, TP53, MDM2, CDKN1A
12	renal/urinary system phenotype	MP:0005367	7.4	NF1, PTEN, TP53, MDM2, CDKN1A, BAX
13	mortality/aging	MP:0010768	7.3	NF1, PTEN, TP53, CDKN1A, ATM, XPC
14	skeleton phenotype	MP:0005390	7.1	MDM2, TP53, TERC, PTEN, CDKN2A, CDKN1A
15	vision/eye phenotype	MP:0005391	6.7	NF1, PTEN, TERC, TP53, CDKN2A, CDKN1A
16	embryogenesis phenotype	MP:0005380	6.6	NF1, PTEN, TERC, TP53, MDM2, CDKN2A
17	cardiovascular system phenotype	MP:0005385	6.5	NF1, PTEN, TERC, TP53, MDM2, CDKN1A
18	muscle phenotype	MP:0005369	6.5	MDM2, TP53, TERC, PTEN, NF1, CDKN2A
19	digestive/alimentary phenotype	MP:0005381	6.3	PTEN, TERC, TP53, MDM2, MLH1, CDKN2A
20	integument phenotype	MP:0010771	5.7	MLH1, MDM2, TP53, TERC, PTEN, NF1
21	growth/size phenotype	MP:0005378	5.6	NF1, PTEN, TERC, TP53, MDM2, CDKN2A
22	hematopoietic system phenotype	MP:0005397	5.3	CDKN1A, CDKN2A, MDM2, TP53, TERC, PTEN
23	homeostasis/metabolism phenotype	MP:0005376	5.3	CDKN1A, CDKN2A, MLH1, TP53, TERC, PTEN
24	nervous system phenotype	MP:0003631	5.2	CDKN1A, CDKN2A, MDM2, TP53, TERC, PTEN
25	tumorigenesis	MP:0002006	5.2	RB1, NF1, PTEN, TERC, TP53, MDM2
26	cellular phenotype	MP:0005384	4.2	CDKN1A, CDKN2A, MLH1, MDM2, TP53, TERC

Articles related to li-fraumeni syndrome:

(show top 50)    (show all 86)

id	Title	Authors	Year	Affiliating Genes
1	Joint effects of germ-line TP53 mutation, MDM2 SNP309 , and gender on cancer risk in family studies of Li-Fraumeni syndrome. (21305319)	Wu C.C.... Strong L.C.	2011	MDM2, TP53
2	Li-Fraumeni syndrome]. (21345471)	Alonso-Cerezo M.C.... PAcrez-PAcrez P.	2011	TP53
3	Li-Fraumeni syndrome in a Turkish family. (20426520)	Karakas Z.... Devecioglu O.	2010	TP53
4	TP53 germline mutation testing in 180 families suspec ted of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. (20522432)	Ruijs M.W.... van 't Veer L.J.	2010	TP53
5	p53 Tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma. (19714490)	Fiszer-Maliszewska L.... Padzik J.	2009	TP53
6	Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family. (18937320)	Capra V.... Fronza G.	2009	TP53
7	Identification of a novel germ-line mutation in the T P53 gene in a Mexican family with Li-Fraumeni syndrome. (20017945)	Taja-Chayeb L.... DueA+as-GonzA!lez A.	2009	TP53
8	Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. (19204208)	Gonzalez K.D.... Weitzel J.N.	2009	TP53
9	The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations. (19602465)	Finkova A.... Sedlacek Z.	2009	TP53, MSH2, MLH1
10	TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic mo difiers in the Li-Fraumeni syndrome: impact on age at first diagnosis. (19542078)	Marcel V.... Achatz M.I.	2009	MDM2, TP53
11	Li-Fraumeni syndrome in a Malaysian kindred. (18786442)	Ariffin H.... Hainaut P.	2008	TP53
12	Potential of Advexin: a p53 gene-replacement therapy in Li-Fraumeni syndrome. (19086841)	Nemunaitis J.M.... Nemunaitis J.	2008	TP53
13	Two TP53 germline mutations in a classical Li-Fraumeni syndrome family. (17318340)	van Hest L.P.... Meijers-Heijboer H.	2007	TP53
14	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. (16258005)	Bougeard G.... Frebourg T.	2006	MDM2, TP53
15	Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. (15695383)	Bachinski L.L.... Krahe R.	2005	TP53, LFS3
16	Li-Fraumeni syndrome: a p53 family affair. (15917654)	Iwakuma T.... Flores E.R.	2005	TP53
17	Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome. (16284780)	Brown B.W.... Strong L.C.	2005	TERC
18	Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome. (15719270)	Rieske P.... Liberski P.P.	2005	TP53
19	Prenatal diagnosis in Li-Fraumeni syndrome. (15342977)	Avigad S.... Zaizov R.	2004	TP53
20	Gain of function of a p53 hot spot mutation in a mouse model of Li-Fraumeni syndrome. (15607981)	Lang G.A.... Lozano G.	2004	TP53
21	Germ line BAX alterations are infrequent in Li-Fraumeni syndrome. (15298965)	Barlow J.W.... Malkin D.	2004	BAX
22	Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. (12584563)	Bougeard G.... Frebourg T.	2003	TP53
23	Leukemic and non-leukemic lymphocytes from patients w ith Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregu lation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol. (12695689)	Pepper C.... Bentley P.	2003	TP53, BCL2
24	RNA polymerase III transcription can be derepressed by oncogenes or mutations that compromise p53 function in tumours and Li-Fraumeni syndrome. (12082526)	Stein T.... White R.J.	2002	MDM2, TP53
25	Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome. (12471212)	Evans D.G.... Varley J.M.	2002	TP53
26	Mechanism of functional inactivation of a Li-Fraumeni syndrome p53 that has a mutation outside of the DNA-binding domain. (11245491)	Gu J.... Yuan Z.M.	2001	TP53
27	Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. (11474498)	Limacher J.M.... Bergerat J.P.	2001	TP53
28	p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition. (11479205)	Vahteristo P.... Nevanlinna H.	2001	TP53, CHEK1, CHEK2
29	Family with Li-Fraumeni syndrome and no evidence of a germline mutation of the p53 gene or chromosomal aberrations. (14564044)	Sikorska A.... Rusin M.	2001	TP53
30	Destabilization of CHK2 by a missense mutation associated with Li- Fraumeni Syndrome. (11719428)	Lee S.B.... Haber D.A.	2001	CHEK2, TP53
31	Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. (11120338)	Brown L.T.... Malkin D.	2000	TP53, PTEN
32	Genomic alterations associated with loss of heterozygosity for TP53 in Li-Fraumeni syndrome fibroblasts. (10945493)	Burt E.C.... Varley J.M.	2000	TP53
33	Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome. (10389970)	Burt E.C.... Varley J.M.	1999	PTEN, CDKN2A
34	Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. (10432928)	Huusko P.... Winqvist R.	1999	TP53, BRCA1, BRCA2
35	Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. (9569035)	Sedlacek Z.... Goetz P.	1998	TP53
36	A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. (9792154)	Varley J.M.... Evans D.G.	1998	TP53
37	Aberrant p21WAF1-dependent growth arrest as the possible mechanism of abnormal resistance to ultraviolet light cytotoxicity in Li-Fraumeni syndrome fibroblast strains heterozygous for TP53 mutations. (9704919)	Barley R.D.... Mirzayans R.	1998	TP53
38	The Li-Fraumeni syndrome: an inherited susceptibility to cancer. (9302689)	Evans S.C.... Lozano G.	1997	TP53
39	Faulty DNA polymerase delta/epsilon-mediated excision repair in response to gamma radiation or ultraviolet light in p53-deficient fibroblast strains from affected members of a cancer-prone family with Li-Fraumeni syndrome. (8625479)	Mirzayans R.... Paterson M.C.	1996	TP53
40	Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome. (7799951)	Shay J.W.... Gollahon L.S.	1995	TP53
41	Aflatoxin B1-induced immortalization of cultured skin fibroblasts from a patient with Li-Fraumeni syndrome. (7834802)	Tsutsui T.... Barrett J.C.	1995	TP53
42	Li-Fraumeni syndrome and germ-line mutations of the p53 gene (8087224)	Leblanc T.... Soussi T.	1994	TP53
43	Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family. (8084585)	Stolzenberg M.C.... Feunteun J.	1994	TP53
44	A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. (7936651)	Plummer S.J.... Casey G.	1994	TP53
45	p53 expression in three separate tumours from a patie nt with Li-Fraumeni's syndrome. (8157761)	King P.... Malcolm A.J.	1993	TP53
46	p53 and the Li-Fraumeni syndrome. (8500106)	Malkin D.	1993	TP53
47	Correction: a Li-Fraumeni syndrome p53 mutation. (8438145)	Malkin D.... Friend S.H.	1993	TP53
48	Detection of both mutant and wild-type p53 protein in normal skin fibroblasts and demonstration of a shared 'second hit' on p53 in diverse tumors from a cancer-prone family with Li-Fraumeni syndrome. (1373881)	Srivastava S.... Chang E.H.	1992	TP53
49	p53 germline mutations in Li-Fraumeni syndrome. (1683921)	Santibanez-Koref M.F.... Harris M.	1991	TP53
50	Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. (2259385)	Srivastava S.... Chang E.H.	1990	TP53

Genes related to li-fraumeni syndrome according to GeneCards:

(show all 21)

id	Symbol	Description	Score	GeneCards Section Context
1	TP53	tumor protein p53	11.1	Summaries, Publications
2	CHEK2	checkpoint kinase 2	11.1	Publications, Orthologs, Summaries
3	LFS3	Li-Fraumeni syndrome 3	11.1	Publications, Aliases & Descriptions
4	XPC	xeroderma pigmentosum, complementation group C	11.1
5	MDM2	Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)	11.1	Publications
6	MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	11.1	Publications
7	NF1	neurofibromin 1	11.1
8	PTEN	phosphatase and tensin homolog	11.1	Publications
9	RB1	retinoblastoma 1	11.1
10	BRCA1	breast cancer 1, early onset	11.1	Publications
11	BRCA2	breast cancer 2, early onset	11.1	Publications
12	ATM	ataxia telangiectasia mutated	11.1
13	CDKN2A	cyclin-dependent kinase inhibitor 2A	11.1	Publications
14	CDKN1A	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	11.1
15	IDH1	isocitrate dehydrogenase 1 (NADP+), soluble	11.0	Publications
16	MYCN	v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)	11.0	Publications
17	TERC	telomerase RNA component	11.0	Publications
18	MSH2	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	11.0	Publications
19	CHEK1	checkpoint kinase 1	11.0	Publications
20	BCL2	B-cell CLL/lymphoma 2	11.0	Publications
21	BAX	BCL2-associated X protein	11.0	Publications

Pathways related to li-fraumeni syndrome according to GeneDecks:

(show top 50)    (show all 65)

id	Pathway	Score	Top Affiliating Genes
1	Transcription P53 signaling pathway10	10.4	TP53, CDKN2A
2	Colorectal cancer20	10.3	MSH2
3	Pancreatic cancer20	10.2	BRCA2
4	Signal transduction PTEN pathway10	10.1	CDKN1A, PTEN
5	Akt Signaling36	9.9	MDM2, CHEK1
6	Inhibition of Ribosome Biogenesis by p14(ARF)36	9.8	RB1, CDKN2A, MDM2, TP53
7	GADD45 Pathway36	9.7	TP53, CDKN1A, ATM, BRCA1
8	DNA Damage Induced 14-3-3Sigma Signaling36	9.6	BRCA1, ATM, TP53
9	Fanconis Anaemia Pathway36	9.6	BRCA1, BRCA2
10	DNA damage ATM/ATR regulation of G1/S checkpoint10	9.6	MDM2, ATM, CHEK2, CHEK1
11	Doxorubicin Pathway (Cancer Cell), Pharmacodynamics34	9.6	MSH2, MLH1, TP53
12	Bladder cancer20	9.5	RB1, CDKN1A, CDKN2A, MDM2, TP53
13	Cell cycle Regulation of G1/S transition (part 1)10	9.5	CDKN2A, CDKN1A, CHEK2, BRCA1
14	DNA damage_DNA-damage-induced responses41	9.5	ATM, CHEK2, CHEK1, BRCA1
15	DNA damage DNA-damage-induced responses10	9.5	ATM, CHEK2, CHEK1, BRCA1
16	Cell cycle_Role of 14-3-3 proteins in cell cycle regulation41	9.5	TP53, ATM, CHEK2, CHEK1
17	Cell cycle Role of 14-3-3 proteins in cell cycle regulation10	9.5	TP53, ATM, CHEK2, CHEK1
18	Chronic myeloid leukemia20	9.5	TP53, MDM2, CDKN2A, CDKN1A, RB1
19	G1-S Phase Transition36	9.4	TP53, CDKN2A, CDKN1A, ATM, RB1
20	Cell cycle_Regulation of G1/S transition (part 1)41	9.4	BRCA1, CHEK2, CDKN1A, CDKN2A
21	Glioblastoma Multiforme36	9.4	NF1, PTEN, TP53, MDM2, CDKN1A, RB1
22	Cyclins and Cell Cycle Regulation36	9.4	TP53, CDKN2A, CDKN1A, ATM, RB1
23	Signal transduction_AKT signaling41	9.3	PTEN, TP53, MDM2, CDKN1A, BAX
24	Glioma20	9.3	PTEN, TP53, MDM2, CDKN2A, CDKN1A, RB1
25	Melanoma20	9.3	PTEN, TP53, MDM2, CDKN2A, CDKN1A, RB1
26	G2-M Phase Transition36	9.0	TP53, MDM2, CDKN1A, ATM, CHEK2, CHEK1
27	Busulfan Pathway, Pharmacodynamics34	9.0	BCL2, CHEK2, MSH2, MLH1
28	Colorectal Cancer Metastasis36	8.9	TP53, MLH1, CDKN1A, MSH2, BAX
29	Selected targets of p5310	8.8	BCL2, BAX, CDKN1A, TP53
30	Prostate cancer20	8.8	PTEN, TP53, MDM2, CDKN1A, BCL2, RB1
31	ATM Pathway36	8.8	TP53, MDM2, CDKN1A, ATM, CHEK2, CHEK1
32	DNA damage_ATM/ATR regulation of G1/S checkpoint41	8.8	TP53, MDM2, CDKN1A, ATM, CHEK2, CHEK1
33	Chks in Checkpoint Regulation36	8.8	TP53, MDM2, CDKN1A, ATM, CHEK2, CHEK1
34	DNA damage_Role of Brca1 and Brca2 in DNA repair41	8.8	TP53, MLH1, ATM, MSH2, XPC, CHEK2
35	DNA damage Role of Brca1 and Brca2 in DNA repair10	8.8	CHEK2, BRCA2, BRCA1, XPC, MSH2, ATM
36	Apoptosis Signaling Pathways37	8.7	TP53, CDKN1A, BAX, BCL2
37	DNA Damage3	8.6	TP53, MDM2, MSH2, CHEK2, CHEK1, BRCA2
38	Cell cycle20	8.5	TP53, MDM2, CDKN2A, CDKN1A, ATM, CHEK2
39	Pancreatic Adenocarcinoma36	8.4	TP53, MDM2, CDKN2A, CDKN1A, BCL2, BRCA2
40	Mitochondrial Apoptosis36	8.3	TP53, MDM2, CDKN2A, ATM, BAX, CHEK2
41	BRCA1 Pathway36	8.3	TP53, ATM, MSH2, CHEK2, CHEK1, BRCA2
42	Cellular Apoptosis Pathway36	8.3	TP53, MDM2, CDKN2A, ATM, BAX, CHEK2
43	Transcription_P53 signaling pathway41	8.3	CDKN1A, CDKN2A, MDM2, TP53, ATM, XPC
44	DNA Repair Mechanisms36	8.1	TP53, MDM2, ATM, MSH2, XPC, CHEK2
45	p53 signaling pathway20	8.0	PTEN, TP53, MDM2, CDKN2A, CDKN1A, ATM
46	p53 Mediated Apoptosis36	7.8	PTEN, TP53, MDM2, ATM, BAX, CHEK2
47	Pathways in cancer20	7.5	PTEN, TP53, MDM2, CDKN1A, MSH2, BAX
48	Molecular Mechanisms of Cancer36	7.2	PTEN, TP53, MDM2, CDKN2A, CDKN1A, ATM
49	p53 Signaling36	7.2	BRCA1, PTEN, TP53, MDM2, CDKN1A, ATM
50	Cell Cycle / Checkpoint Control3	7.2	RB1, MLH1, CDKN2A, CDKN1A, ATM, MSH2

Compounds related to li-fraumeni syndrome according to GeneDecks:

(show top 50)    (show all 163)

id	Compound	Score	Top Affiliating Genes
1	vincristine32 34 9 9	13.5	MYCN
2	ly29400232	10.5	XPC
3	h2o232	9.7	BRCA2, BRCA1, CHEK1
4	estrogen32	9.4	BRCA1, BRCA2, MLH1, NF1, TERC
5	bpde32	9.1	CHEK2, ATM, MDM2, BRCA1, TP53, CHEK1
6	crcs32	9.1	MSH2, PTEN, RB1, CDKN2A, TP53, MLH1
7	benzo(a)pyrene32	9.0	CDKN1A, MDM2, TP53, XPC, BRCA1, RB1
8	hmba32	9.0	TP53, CDKN2A, CDKN1A, MYCN, RB1
9	agar32	8.8	RB1, TERC, BRCA1, MYCN, CDKN2A
10	methylmethanesulfonate32	8.8	TP53, BRCA1, BRCA2, CDKN1A, CHEK1, MDM2
11	10-hydroxycamptothecin32	8.7	TP53, BCL2, CDKN1A, MDM2, BAX
12	aphidicolin32	8.7	CHEK2, BRCA1, CDKN1A, CHEK1, ATM, RB1
13	mg 13232 42	9.6	PTEN, CDKN2A, CDKN1A, BAX, MYCN, BRCA1
14	7-hydroxystaurosporine32 9 9	10.6	CDKN1A, BCL2, CHEK1, TP53, RB1
15	noxa32	8.5	BAX, BCL2, MDM2, CDKN1A, TP53, PTEN
16	temozolomide32 9 9	10.5	MSH2, TP53, CDKN1A, MLH1, CHEK2, CHEK1
17	mitomycin c32	8.4	MDM2, TP53, BRCA2, BRCA1, BCL2, RB1
18	olomoucine32 42 9 9	11.4	BAX, TP53, BCL2, RB1, CDKN1A, CDKN2A
19	irinotecan32 34 9 9	11.4	CHEK1, TP53, MDM2, MLH1, CDKN2A, CDKN1A
20	carboplatin32 34 9 9	11.3	RB1, MLH1, MDM2, TP53, BCL2, MSH2
21	depsipeptide32	8.3	TP53, CDKN2A, CDKN1A, BAX, RB1, BCL2
22	indole-3-carbinol32	8.2	BRCA1, BRCA2, PTEN, BCL2, CDKN1A, TP53
23	vegf32	8.2	TP53, MDM2, MLH1, CDKN1A, BCL2, MYCN
24	flavopiridol32 9 9	10.2	MDM2, BCL2, BAX, RB1, CDKN1A, CDKN2A
25	hydroxyurea32 9 9	10.0	TP53, CDKN2A, CDKN1A, ATM, CHEK1, MYCN
26	resveratrol32 9 18 9	10.9	TP53, MDM2, CDKN1A, BCL2, BAX, BRCA1
27	docetaxel32 34 9 9	10.9	BCL2, BRCA1, BAX, CDKN1A, CDKN2A, MDM2
28	adpribose32	7.6	TERC, TP53, MDM2, CDKN1A, BAX, BCL2
29	cytarabine32 34 9 9	10.5	ATM, BCL2, CDKN2A, RB1, CHEK1, BAX
30	gemcitabine32 34 9 9	10.5	BCL2, CHEK1, CHEK2, BAX, CDKN1A, MLH1
31	doxorubicin32 34 9 9	10.3	ATM, MSH2, CHEK2, CHEK1, MYCN, BRCA1
32	agarose32	7.3	CDKN2A, MLH1, BAX, BCL2, MYCN, BRCA1
33	thymidylate32	7.3	RB1, BRCA1, BCL2, BAX, MSH2, CDKN1A
34	wortmannin32 42	8.2	XPC, BAX, CHEK2, CHEK1, ATM, CDKN1A
35	phosphatidylinositol32	7.2	NF1, ATM, BAX, CHEK2, CHEK1, BRCA2
36	n acetylcysteine32	7.1	ATM, BCL2, CHEK2, CHEK1, TP53, CDKN2A
37	cycloheximide32	7.0	PTEN, TP53, MDM2, CDKN2A, CDKN1A, BAX
38	retinoic acid32 42 18	8.8	BRCA2, MYCN, CHEK1, CHEK2, RB1, BRCA1
39	genistein32 9 18 9	9.7	MYCN, BRCA2, BRCA1, RB1, BCL2, CHEK2
40	paclitaxel32 34 9 9	9.6	PTEN, TP53, MDM2, MLH1, CDKN2A, CDKN1A
41	oxygen32 18	7.5	PTEN, MDM2, CDKN2A, CDKN1A, ATM, BAX
42	progesterone32 42 9 18 9	10.4	TP53, RB1, BRCA1, BRCA2, BCL2, TERC
43	camptothecin32 42 9 9	9.4	RB1, BRCA1, TP53, MDM2, MLH1, CDKN2A
44	etoposide32 42 9 9	9.1	ATM, CDKN1A, MLH1, MDM2, TP53, TERC
45	adriamycin32	6.0	MDM2, BRCA2, MYCN, BCL2, CHEK1, CHEK2
46	5fluorouracil32	5.9	BCL2, BRCA1, RB1, CHEK1, BAX, CDKN1A
47	oligonucleotide32	5.9	BCL2, MYCN, BRCA2, BRCA1, RB1, NF1
48	serine32	5.8	RB1, TP53, BRCA1, BCL2, CHEK1, MYCN
49	paraffin32	5.3	MDM2, MLH1, CDKN2A, CDKN1A, ATM, MSH2
50	cisplatin32 34 9 9	7.5	CHEK2, CHEK1, BCL2, MYCN, BRCA2, BRCA1

Cellular components related to li-fraumeni syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nuclear body	GO:016604	9.8	CDKN2A, MDM2, TP53
2	PML body	GO:016605	9.7	RB1, CHEK2, TP53, PTEN
3	protein complex	GO:043234	9.3	TP53, MDM2, CDKN2A, BRCA2, BRCA1
4	chromosome, telomeric region	GO:000781	9.3	ATM, CHEK2, CHEK1
5	pore complex	GO:046930	9.1	BCL2, BAX
6	chromatin	GO:000785	8.9	RB1, MYCN, CHEK1
7	nucleoplasm	GO:005654	7.5	RB1, TP53, MDM2, CDKN2A, CDKN1A, ATM
8	nucleus	GO:005634	5.5	CDKN2A, MLH1, MDM2, TP53, PTEN, NF1

Biological processes related to li-fraumeni syndrome according to GeneDecks:

(show all 49)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of neuroblast proliferation	GO:007406	10.2	TP53, NF1
2	negative regulation of mammary gland epithelial cell proliferation	GO:033600	10.2	CDKN2A, BRCA2
3	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:006978	10.2	TP53, BRCA2, BRCA1
4	DNA damage response, signal transduction resulting in induction of apoptosis	GO:008630	10.1	BRCA1, CHEK2, ATM
5	positive regulation of cell cycle arrest	GO:071158	10.1	TP53, CDKN2A, BRCA1
6	mitotic cell cycle arrest	GO:071850	10.0	TP53, CDKN1A
7	positive regulation of apoptotic process involved in mammary gland involution	GO:060058	10.0	BAX, CDKN2A
8	negative regulation of protein kinase activity	GO:006469	10.0	RB1, CDKN2A, NF1
9	double-strand break repair via homologous recombination	GO:000724	10.0	BRCA1, BRCA2, ATM
10	negative regulation of fibroblast proliferation	GO:048147	9.9	NF1, TP53, BAX
11	postreplication repair	GO:006301	9.9	MSH2, BRCA1
12	negative regulation of cell-matrix adhesion	GO:001953	9.9	CDKN2A, NF1
13	nucleotide-excision repair	GO:006289	9.9	TP53, XPC, BRCA2
14	G1 phase of mitotic cell cycle	GO:000080	9.9	CDKN2A, CDKN1A, RB1
15	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:006977	9.9	ATM, CDKN1A, MDM2, TP53
16	DNA damage induced protein phosphorylation	GO:006975	9.8	CHEK1, CHEK2, ATM
17	B cell lineage commitment	GO:002326	9.8	TP53, BCL2
18	positive regulation of neuron apoptotic process	GO:043525	9.8	BAX, ATM, NF1
19	negative regulation of astrocyte differentiation	GO:048712	9.7	NF1, MYCN
20	double-strand break repair	GO:006302	9.7	TP53, ATM, CHEK2, BRCA2, BRCA1
21	G2/M transition DNA damage checkpoint	GO:031572	9.7	BRCA1, CHEK1, ATM
22	regulation of cell-matrix adhesion	GO:001952	9.6	BCL2, NF1
23	Ras protein signal transduction	GO:007265	9.6	NF1, TP53, CDKN2A, CDKN1A, RB1
24	cell aging	GO:007569	9.6	BRCA2, BCL2, TP53
25	positive regulation of apoptotic process	GO:043065	9.5	NF1, TP53, ATM, BAX
26	regulation of nitrogen utilization	GO:006808	9.5	BCL2, BAX
27	regulation of protein stability	GO:031647	9.5	PTEN, CDKN2A, BCL2
28	negative regulation of transcription, DNA-dependent	GO:045892	9.5	RB1, BRCA1, CDKN2A, MDM2, TP53
29	positive regulation of protein oligomerization	GO:032461	9.5	TP53, BAX
30	regulation of protein heterodimerization activity	GO:043497	9.5	BAX, BCL2
31	regulation of protein homodimerization activity	GO:043496	9.4	BAX, BCL2
32	response to UV-B	GO:010224	9.4	MSH2, BCL2
33	positive regulation of transcription, DNA-dependent	GO:045893	9.4	TP53, CDKN2A, CHEK2, BRCA2, BRCA1, RB1
34	release of cytochrome c from mitochondria	GO:001836	9.3	TP53, BAX, BCL2
35	negative regulation of cell migration	GO:030336	9.3	BCL2, PTEN, NF1
36	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	GO:070059	9.1	BAX, BCL2
37	G1/S transition of mitotic cell cycle	GO:000082	9.1	CDKN2A, CDKN1A, BCL2, RB1
38	induction of apoptosis by intracellular signals	GO:008629	9.0	TP53, CDKN1A, BAX, BCL2
39	response to toxin	GO:009636	9.0	CDKN1A, BAX, BCL2
40	cell cycle arrest	GO:007050	9.0	TP53, CDKN2A, CDKN1A, ATM, MSH2, RB1
41	negative regulation of cell growth	GO:030308	9.0	TP53, CDKN2A, CDKN1A, BCL2, RB1
42	replicative senescence	GO:090399	9.0	CHEK1, TP53, CDKN2A, CDKN1A, ATM, CHEK2
43	response to gamma radiation	GO:010332	8.9	TP53, BAX, CHEK2, BCL2, BRCA2
44	neuron apoptotic process	GO:051402	8.8	TP53, ATM, BAX, BCL2, RB1
45	negative regulation of apoptotic process	GO:043066	8.8	PTEN, TP53, MDM2, CDKN1A, ATM, BCL2
46	DNA repair	GO:006281	8.7	ATM, MSH2, XPC, CHEK1, BRCA2, BRCA1
47	cell cycle checkpoint	GO:000075	8.3	TP53, MDM2, CDKN2A, CDKN1A, ATM, XPC
48	apoptotic process	GO:006915	8.1	PTEN, TP53, MSH2, BAX, CHEK2, BCL2
49	response to DNA damage stimulus	GO:006974	7.7	TP53, CDKN1A, ATM, BAX, CHEK2, CHEK1

Molecular functions related to li-fraumeni syndrome according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	mismatched DNA binding	GO:030983	9.7	MSH2, MLH1
2	single-stranded DNA binding	GO:003697	9.4	MLH1, MSH2, XPC, BRCA2
3	enzyme binding	GO:019899	9.2	PTEN, TP53, MDM2, MSH2, BRCA1
4	BH3 domain binding	GO:051434	9.2	BAX, BCL2
5	protease binding	GO:002020	9.2	BRCA2, BCL2, TP53
6	protein kinase binding	GO:019901	9.1	CHEK2, MSH2, CDKN2A, TP53, PTEN
7	ubiquitin protein ligase binding	GO:031625	9.0	TP53, CHEK2, BCL2, BRCA1, RB1
8	channel activity	GO:015267	8.8	BCL2, BAX
9	transcription factor binding	GO:008134	8.8	TP53, CDKN2A, BCL2, RB1
10	protein binding	GO:005515	4.6	RB1, NF1, PTEN, TP53, MDM2, MLH1