Details of Disease

Disease Name

Hereditary neoplastic syndrome

syndromes, hereditary cancer; hereditary cancer syndromes; hereditary cancer syndrome; syndrome, hereditary neoplastic; inherited cancer syndrome; inherited cancer-predisposing syndrome; hereditary neoplastic syndromes; syndromes, hereditary neoplastic; syndrome, hereditary cancer; familial neoplastic syndrome; familial tumour syndrome; neoplastic syndrome, hereditary; hereditary tumour syndrome; familial tumor syndrome; cancer syndrome, hereditary; cancer syndromes, hereditary; hereditary neoplastic syndrome; hereditary tumor syndrome

Definition

The inherited predisposition toward getting a tumor.

Disease Hierarchy

DISYKSRF: Genetic disease

DIS9RZ96: Neoplastic syndrome

DIS98MYE: Inherited disease susceptibility

DISGXLG5: Hereditary neoplastic syndrome

Disease Identifiers

MONDO ID

MONDO_0015356

MESH ID

D009386

UMLS CUI

C0027672

MedGen ID

14326

Orphanet ID

140162

SNOMED CT ID

699346009

General Information of Disease (ID: DISGXLG5)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRIP1	TTZV7LJ	Limited	CausalMutation	[1]
CHEK2	TT9ABMF	Limited	CausalMutation	[2]
FBXO11	TT6G10V	Limited	CausalMutation	[3]
MRC1	TTKV8W5	Limited	Biomarker	[4]
VHL	TTEMWSD	Limited	CausalMutation	[5]
MUTYH	TTNB0ZK	Disputed	CausalMutation	[6]
SDHD	TTVH9W8	Disputed	CausalMutation	[7]
SMARCA4	TTVQEZS	Disputed	CausalMutation	[8]
BRCA2	TTUARD6	Strong	CausalMutation	[9]
CDH1	TTLAWO6	Strong	Genetic Variation	[10]
HOXB13	TTZ6I58	Strong	Genetic Variation	[11]
MLH1	TTISG27	Strong	CausalMutation	[12]
MSH2	TTCAWRT	Strong	CausalMutation	[13]
RET	TT4DXQT	Strong	CausalMutation	[14]
DICER1	TTTEOPU	Definitive	CausalMutation	[15]
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⏷ Show the Full List of 15 DTT(s)

This Disease Is Related to 34 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDC73	OT6JASZ1	Limited	Genetic Variation	[16]
BARD1	OTTC0Z9Y	Disputed	CausalMutation	[17]
FANCC	OTTIDM3P	Disputed	CausalMutation	[18]
FLCN	OTVM78XM	Disputed	CausalMutation	[19]
MAX	OTKZ0YKM	Disputed	CausalMutation	[20]
MITF	OT6XJCZH	Disputed	CausalMutation	[21]
MPRIP	OT5FV5NS	Disputed	CausalMutation	[19]
MRE11	OTGU8TZM	Disputed	Genetic Variation	[22]
NBN	OT73B5MD	Disputed	CausalMutation	[23]
PALB2	OT6DNDBG	Disputed	CausalMutation	[24]
POLD1	OTWO4UCJ	Disputed	CausalMutation	[25]
POLE	OTFM3MMU	Disputed	CausalMutation	[26]
PTCH1	OTMG07H5	Disputed	CausalMutation	[27]
RAD50	OTYMU9G1	Disputed	CausalMutation	[28]
RAD51C	OTUD6SY5	Disputed	CausalMutation	[17]
RAD51D	OTKOU5XN	Disputed	Genetic Variation	[29]
RB1	OT9VMY7B	Disputed	CausalMutation	[30]
SDHC	OTC8G2MX	Disputed	Genetic Variation	[31]
SMARCB1	OT2LP7LJ	Disputed	CausalMutation	[32]
TMEM127	OTYHUXC1	Disputed	Genetic Variation	[33]
TOE1	OTVWYJS9	Disputed	Genetic Variation	[34]
BLM	OTEJOAJX	Strong	CausalMutation	[35]
BMPR1A	OTQOA4ZH	Strong	Genetic Variation	[36]
BRCA1	OT5BN6VH	Strong	Biomarker	[37]
FH	OTEQWU6Q	Strong	Altered Expression	[38]
MSH6	OT46FP09	Strong	CausalMutation	[39]
PMS2	OTNLWTMI	Strong	CausalMutation	[40]
SDHA	OTOJ8QFF	Strong	Genetic Variation	[41]
SDHAF2	OT0UG9H5	Strong	CausalMutation	[42]
SDHB	OTRE1M1T	Strong	CausalMutation	[43]
TSC2	OT47LWI9	Strong	CausalMutation	[44]
C11orf65	OTKOIR0G	Definitive	CausalMutation	[45]
MEN1	OTN6U6V0	Definitive	Genetic Variation	[46]
STK11	OT1YZSP3	Definitive	Genetic Variation	[47]
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⏷ Show the Full List of 34 DOT(s)

References

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31	Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31.
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34	Base excision repair and the role of MUTYH.Hered Cancer Clin Pract. 2007 Dec 15;5(4):199-209. doi: 10.1186/1897-4287-5-4-199.
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47	Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.BMC Med Genet. 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9.