Li-fraumeni-like Syndrome malady

MalaCards: Li-fraumeni-like Syndrome is related to ovarian germ cell tumor and fallopian tube carcinoma. An important gene associated with Li-fraumeni-like Syndrome is BRCA2 (breast cancer 2, early onset), and among its related pathways are DNA damage Role of Brca1 and Brca2 in DNA repair and DNA damage_Role of Brca1 and Brca2 in DNA repair. The compounds o6-methylguanine and indole-3-carbinol have been mentioned in the context of this disorder.

OMIM: 151623

li-fraumeni-like syndrome 33

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

(show all 48)

id	Related Disease	Score	Top Affiliating Genes
1	ovarian germ cell tumor	12.6	BRCA2, TP53
2	fallopian tube carcinoma	12.6	TP53, BRCA2
3	breast carcinoma in situ	12.6	TP53, BRCA2
4	parathyroid carcinoma	12.6	TP53, BRCA2
5	familial pancreatic cancer	12.6	BRCA2, TP53
6	peritoneal carcinoma	12.6	TP53, BRCA2
7	mutagen sensitivity	12.6	TP53, BRCA2
8	bilateral breast cancer	12.6	TP53, BRCA2
9	male breast cancer	12.6	TP53, BRCA2
10	lynch syndrome	12.6	TP53, BRCA2
11	female breast cancer	12.6	TP53, BRCA2
12	peutz-jeghers syndrome	12.6	BRCA2, TP53
13	von hippel-lindau disease	12.5	TP53, BRCA2
14	bloom syndrome	12.5	BRCA2, TP53
15	prostate carcinoma	12.5	TP53, BRCA2
16	li-fraumeni syndrome	12.5	BRCA2, TP53
17	t cell deficiency	12.5	TP53, BRCA2
18	pandas	12.5	BRCA2, TP53
19	ependymoma	12.5	BRCA2, TP53
20	hemochromatosis	12.5	BRCA2, TP53
21	ductal carcinoma in situ	12.5	TP53, BRCA2
22	cutaneous malignant melanoma	12.5	TP53, BRCA2
23	hereditary breast ovarian cancer	12.5	BRCA2, TP53
24	small cell carcinoma	12.5	BRCA2, TP53
25	oligodendroglioma	12.5	BRCA2, TP53
26	breast cancer susceptibility	12.5	BRCA2, TP53
27	breast cancer	12.5	BRCA2, TP53
28	breast-ovarian cancer	12.5	BRCA2, TP53
29	follicular lymphoma	12.5	TP53, BRCA2
30	nonencapsulated sclerosing carcinoma	12.5	TP53, BRCA2
31	ataxia telangiectasia	12.5	TP53, BRCA2
32	sporadic breast cancer	12.4	TP53, BRCA2
33	stomach carcinoma	12.4	TP53, BRCA2
34	papilloma	12.4	TP53, BRCA2
35	neurofibromatosis	12.4	TP53, BRCA2
36	prostate cancer, progression of	12.4	BRCA2, TP53
37	skin cancer	12.4	BRCA2, TP53
38	germ cell tumor	12.4	BRCA2, TP53
39	hyperparathyroidism	12.4	TP53, BRCA2
40	pancreatic ductal carcinoma	12.3	TP53, BRCA2
41	wilms tumor	12.3	TP53, BRCA2
42	leiomyoma	12.3	TP53, BRCA2
43	oral cancer	12.2	BRCA2, TP53
44	diffuse large b-cell lymphoma	12.2	BRCA2, TP53
45	fanconi's anemia	12.1	BRCA2, TP53
46	medulloblastoma	12.1	BRCA2, TP53
47	pancreatic carcinoma	12.0	BRCA2, TP53
48	polyposis	11.8	TP53, BRCA2

Clinical features from OMIM: 151623

Approved drugs:

Drug clinical trials:

Articles related to li-fraumeni-like syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Association of germline or somatic TP53 missense muta tion with oncogene amplification in tumors developed in patients with Li-Fraume ni or Li-Fraumeni-like syndrome. (21484931)	Sugawara W.... Kaneko Y.	2011	TP53
2	Li-Fraumeni and Li-Fraumeni-like syndrome mutations i n p53 are associated with exonic methylation and splicing regulatory elements. (19367569)	Kouidou S.... Maglaveras N.	2009	TP53
3	BRCA2: a cause of Li-Fraumeni-like syndrome. (18178637)	Evans D.G.... Birch J.M.	2008	BRCA2
4	p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes. (18428420)	Gonzalez K.... Saldivar J.S.	2008	TP53
5	Genetic counseling can influence the course of a susp ected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrom e with a germline mutation in the TP53 gene. (19127115)	Hwang S.M.... Kong S.Y.	2008	TP53
6	The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. (16494995)	Achatz M.I.... Hainaut P.	2007	TP53

Genes related to li-fraumeni-like syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	BRCA2	breast cancer 2, early onset	11.1	Publications
2	TP53	tumor protein p53	11.1	Publications

Pathways related to li-fraumeni-like syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	DNA damage Role of Brca1 and Brca2 in DNA repair10	9.3	BRCA2, TP53
2	DNA damage_Role of Brca1 and Brca2 in DNA repair41	9.3	BRCA2, TP53
3	BRCA1 Pathway36	9.3	BRCA2, TP53
4	Pancreatic cancer20	9.2	BRCA2, TP53
5	DNA Damage3	9.2	TP53, BRCA2
6	DNA Repair Mechanisms36	9.1	BRCA2, TP53
7	Pathways in cancer20	9.1	BRCA2, TP53
8	Cell Cycle / Checkpoint Control3	9.0	BRCA2, TP53
9	Pancreatic Adenocarcinoma36	8.8	BRCA2, TP53

Compounds related to li-fraumeni-like syndrome according to GeneDecks:

(show all 17)

id	Compound	Score	Top Affiliating Genes
1	o6-methylguanine32	9.4	TP53, BRCA2
2	indole-3-carbinol32	9.4	TP53, BRCA2
3	methylmethanesulfonate32	9.4	TP53, BRCA2
4	bleomycin32 9 9	11.4	TP53, BRCA2
5	docetaxel32 34 9 9	12.4	TP53, BRCA2
6	adpribose32	9.4	TP53, BRCA2
7	hydroxyurea32 9 9	11.4	BRCA2, TP53
8	mitomycin c32	9.4	BRCA2, TP53
9	vincristine32 34 9 9	12.3	TP53, BRCA2
10	resveratrol32 9 18 9	12.3	TP53, BRCA2
11	adriamycin32	9.3	TP53, BRCA2
12	camptothecin32 42 9 9	12.2	TP53, BRCA2
13	etoposide32 42 9 9	12.2	TP53, BRCA2
14	tamoxifen32 34 9 9	12.1	TP53, BRCA2
15	proline32	9.1	TP53, BRCA2
16	paclitaxel32 34 9 9	12.0	TP53, BRCA2
17	paraffin32	8.8	TP53, BRCA2

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

id	Name	GO ID	Score	Top Affiliating Genes
1	protein complex	GO:043234	9.1	BRCA2, TP53

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:006978	9.3	BRCA2, TP53
2	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	GO:042771	9.2	TP53, BRCA2
3	cell aging	GO:007569	9.2	TP53, BRCA2
4	response to gamma radiation	GO:010332	9.1	BRCA2, TP53
5	nucleotide-excision repair	GO:006289	9.1	TP53, BRCA2
6	multicellular organism growth	GO:035264	9.0	BRCA2, TP53
7	double-strand break repair	GO:006302	8.8	TP53, BRCA2

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

id	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:002020	9.1	BRCA2, TP53