ORPHA:145
Hereditary breast and/or ovarian cancer syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary breast and/or ovarian cancer syndrome | |
| fr | Syndrome héréditaire de prédisposition au cancer du sein et/ou de l'ovaire | |
| de | Brust- und/oder Ovarialkrebssyndrom, hereditäres | |
| es | Síndrome de cáncer hereditario de mama y/o de ovario | |
| it | Sindrome del cancro ereditario della mammella e/o dell'ovaio | |
| nl | Erfelijk syndroom van borst- en/of ovariumkanker | |
| pt | Síndrome de cancro da mama e/ou ovário hereditário | |
| pl | Dziedziczny rak piersi i jajnika | Dziedziczny zespół raka piersi i/lub jajnika |
| cs | Dědičná forma rakoviny prsu a vaječníků | |
| uk | Спадковий синдром раку молочної залози та/або яєчників | |
| zh | 遗传性乳腺癌-卵巢癌综合征 | |
| tr | Kalıtsal meme ve over kanseri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114480 | BTNT | validated | |
| OMIM | 604370 | BTNT | validated | |
| OMIM | 612555 | BTNT | validated | |
| OMIM | 613399 | BTNT | validated | |
| OMIM | 614291 | BTNT | validated | |
| ICD-10 | C50.9 | BTNT | attributed | validated |
| ICD-10 | C56 | ND | attributed | validated |
| ICD-11 | 2C65 | E | specific | validated |
| MONDO | 0003582 | E | validated | |
| MeSH | D061325 | E | validated | |
| UMLS | C0677776 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:183731Rare genetic gynecological and obstetrical diseases
rare genetic diseases - ORPHA:180257Rare malignant breast tumor
rare neoplastic diseases; rare gynecological and obstetric diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:213524Hereditary site-specific ovarian cancer syndrome moved to · inactive
4
Genes
15 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BARD1 | Candidate gene tested in | Not yet assessed | HGNC:952 | ENSG00000138376 | 601593 | 2q35 | BRCA1 associated RING domain 1 | 15342711[PMID] |
| BRIP1 | Candidate gene tested in | Not yet assessed | HGNC:20473 | ENSG00000136492 | 605882 | 17q23.2 | BRCA1 interacting DNA helicase 1 | 17033622[PMID] |
| CHEK2 | Candidate gene tested in | Not yet assessed | HGNC:16627 | ENSG00000183765 | 604373 | 22q12.1 | checkpoint kinase 2 | 21562711[PMID] |
| MRE11 | Candidate gene tested in | Not yet assessed | HGNC:7230 | ENSG00000020922 | 600814 | 11q21 | MRE11 double strand break repair nuclease | 22006311[PMID]_14684699[PMID] |
| NBN | Candidate gene tested in | Not yet assessed | HGNC:7652 | ENSG00000104320 | 602667 | 8q21.3 | nibrin | 22006311[PMID]_14684699[PMID] |
| PALB2 | Candidate gene tested in | Not yet assessed | HGNC:26144 | ENSG00000083093 | 610355 | 16p12.2 | partner and localizer of BRCA2 | 23779253[PMID] |
| PTEN | Candidate gene tested in | Not yet assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 23779253[PMID] |
| RAD50 | Candidate gene tested in | Not yet assessed | HGNC:9816 | ENSG00000113522 | 604040 | 5q31.1 | RAD50 double strand break repair protein | 22006311[PMID]_14684699[PMID] |
| RAD51 | Candidate gene tested in | Not yet assessed | HGNC:9817 | ENSG00000051180 | 179617 | 15q15.1 | RAD51 recombinase | 10807537[PMID]_24114315[PMID] |
| TP53 | Candidate gene tested in | Not yet assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 24884479[PMID]_23779253[PMID] |
| BRCA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1100 | ENSG00000012048 | 113705 | 17q21.31 | BRCA1 DNA repair associated | 16112002[PMID]_20301425[PMID] |
| BRCA2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 16112002[PMID]_20301425[PMID] |
| RAD51C | Disease-causing germline mutation(s) in | Assessed | HGNC:9820 | ENSG00000108384 | 602774 | 17q22 | RAD51 paralog C | 20400964[PMID]_21990120[PMID] |
| RAD51D | Disease-causing germline mutation(s) in | Assessed | HGNC:9823 | ENSG00000185379 | 602954 | 17q12 | RAD51 paralog D | 21822267[PMID] |
| ATM | Major susceptibility factor in | Assessed | HGNC:795 | ENSG00000149311 | 607585 | 11q22.3 | ATM serine/threonine kinase | 33471991[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 28632866[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
7 annotations · validated 2017-07-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0030406 | Primary peritoneal carcinoma | |
| Frequent (79-30%) | ||
| HP:0003002 | Breast carcinoma | |
| Occasional (29-5%) | ||
| HP:0002861 | Melanoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0012125 | Prostate cancer | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301425[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/145
- This record as JSON: /data/d/145.json