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Hereditary Breast and Ovarian Cancer Syndrome (CUI C0677776) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0677776

NCI Thesaurus Code: C8493  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.

GARD Definition: BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries. - this information is from GARD/ORDR/NCATS.

SNOMEDCT_US Definition: Breast cancer is the most common cancer in women, accounting for 25% of all new cases of cancer. Most cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. Autosomal dominant alterations in two genes, BRCA1 and BRCA2, are likely to account for most familial cases of early-onset breast and/or ovarian cancer and for 3-4% of all breast cancer. The lifetime risk of developing hereditary breast cancer and/or ovarian cancer can reach 80%. For a given mutation in the susceptibility gene, disease severity and age at onset show great variability within and between breast cancer families, suggesting the involvement of other genetic as well as non-genetic factors.

MSH Definition: Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers.

Synonyms & Abbreviations: (see Synonym Details)
BRCA2 hereditary breast and ovarian cancer syndrome
BROVCA2
Familial Breast and Ovarian Cancer Syndrome
Familial Breast/Ovarian Cancer (BRCA1, BRCA2)
Familial susceptibility to breast-ovarian cancer 2
HBOC Syndromes
HBOC Syndrome
HBOC
Hereditary breast and ovarian cancer syndrome (disorder)
Hereditary Breast and Ovarian Cancer Syndrome [Disease/Finding]
Hereditary breast and ovarian cancer syndrome
Hereditary Breast and Ovarian Cancer
Hereditary Breast/Ovarian Cancer (BRCA1, BRCA2)
Syndrome, HBOC
Syndromes, HBOC

External Source Codes: 
NCI Thesaurus Code C8493 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN coordinate IM with histological type of neoplasm (IM) if pertinent MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID XUtaf SNOMEDCT_US
DATE_CREATED 2015-01-13T00:02:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2002-09-10 PDQ
DATE_LAST_MODIFIED 2015-01-12T00:03:00 GARD
DATE_LAST_MODIFIED 2015-01-13T00:02:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 28976 GARD
DISEASE_IDENTIFIER_ID 28978 GARD
DISEASE_IDENTIFIER_ID 28983 GARD
DISEASE_IDENTIFIER_ID 30705 GARD
DX 20120101 MSH
EFFECTIVE_TIME 20160731 SNOMEDCT_US
FX D019313 MSH
FX D024682 MSH
HAS_GARD_PAGE true GARD
HN 2012 MSH
IDENTIFIER_SOURCE Gen GARD
IDENTIFIER_SOURCE Med GARD
IDENTIFIER_SOURCE OMI GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Synonym Modified GARD
MDA 20110624 MSH
MESH_DEFINITION Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. NDFRT
MESH_DUI D061325 NDFRT
MESH_NAME Hereditary Breast and Ovarian Cancer Syndrome NDFRT
MESH_UI M0556977 NDFRT
MN C04.588.180.483 MSH
MN C04.588.322.455.431 MSH
MN C04.700.517 MSH
MN C13.351.500.056.630.705.431 MSH
MN C13.351.937.418.685.431 MSH
MN C16.320.700.517 MSH
MN C17.800.090.500.483 MSH
MN C19.344.410.431 MSH
MN C19.391.630.705.431 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C8493 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000183416 NDFRT
ORIG_STY Genetic condition PDQ
PID 6641 PDQ
PM 2012 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/12352/brca2-hereditary-breast-and-ovarian-cancer-syndrome/resources/1 GARD
RXAUI 4222950 RXNORM
RXAUI 4223097 RXNORM
RXAUI 4223098 RXNORM
RXCUI 1257957 RXNORM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS C50.9 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS C56 | MAPPED FOLLOWING WHO GUIDANCE | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~C50.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~C56 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS C50.919 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER LATERALITY SPECIFICATION SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS C56.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER LATERALITY SPECIFICATION SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~C50.919 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~C56.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUtaf SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T789416 MSH
TERMUI T789417 MSH
TH NLM (2012) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0677776

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