Details of Disease

General Information of Disease (ID: DISGLR2C)

• Disease Name: Familial ovarian cancer
• Synonyms: familial ovarian malignant tumour; hereditary ovarian cancer; familial ovarian malignant tumor; familial ovarian cancer
• Definition: An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISZJHAP: Ovarian cancer
  DISGLR2C: Familial ovarian cancer
• Disease Identifiers:
  MONDO ID: MONDO_0016248
  UMLS CUI: C5679802
  MedGen ID: 1803368
  Orphanet ID: 213517
  SNOMED CT ID: 1196879002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
XRCC2	OTJB2PV4	No Known	Autosomal dominant	[1]
CDH1	OTFJMXPM	No Known	Autosomal dominant	[1]
CHEK1	OTTTI622	No Known	Autosomal dominant	[1]
GEN1	OT1XFQXF	No Known	Autosomal dominant	[1]
MCPH1	OTYT3TT5	No Known	Autosomal dominant	[1]
NF1	OTC29NHH	No Known	Autosomal dominant	[1]
PIK3CA	OTTOMI8J	No Known	Autosomal dominant	[1]
RECQL	OTPCH3JH	No Known	Autosomal dominant	[1]
RINT1	OTMO19ZD	No Known	Autosomal dominant	[1]
SLX4	OTF6236I	No Known	Autosomal dominant	[1]
STK11	OT1YZSP3	No Known	Autosomal dominant	[1]
MRE11	OTGU8TZM	Refuted	Autosomal dominant	[1]
RAD50	OTYMU9G1	Refuted	Autosomal dominant	[1]
ATM	OTQVOHLT	Limited	Autosomal dominant	[1]
BARD1	OTTC0Z9Y	Limited	Autosomal dominant	[1]
CHEK2	OT8ZPCNS	Disputed	Autosomal dominant	[1]
PALB2	OT6DNDBG	Moderate	Autosomal dominant	[1]
BRIP1	OT38QBD4	Definitive	Autosomal dominant	[1]

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDH1	TTLAWO6	No Known	Autosomal dominant	[1]
CHEK1	TTTU902	No Known	Autosomal dominant	[1]
PIK3CA	TTEUNMR	No Known	Autosomal dominant	[1]
ATM	TTKBM7V	Limited	Autosomal dominant	[1]
CHEK2	TT9ABMF	Disputed	Autosomal dominant	[1]
MUTYH	TTNB0ZK	Disputed	Autosomal recessive	[1]
BRIP1	TTZV7LJ	Definitive	Autosomal dominant	[1]

References

• [1] 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.