ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary breast ovarian cancer syndrome
go back to main search page
Accession:DOID:5683 term browser browse the term
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:exact_synonym: BRCA1- and BRCA2-associated hereditary breast and ovarian cancer;   BREAST AND/OR OVARIAN CANCER;   BREAST-OVARIAN CANCER, FAMILIAL 2;   BROVCA1;   BROVCA2;   BROVCA3;   BROVCA4;   HBOC Syndrome;   HBOC Syndromes;   familial breast-ovarian cancer, 1;   familial breast-ovarian cancer, 4;   hereditary breast and ovarian cancer;   hereditary breast and ovarian cancer syndrome
 related_synonym: BREAST AND OVARIAN CANCER SUSCEPTIBILITY;   BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1;   BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2;   BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3;   Breast-Ovarian Cancer, Familial, Susceptibility to, 1;   Breast-Ovarian Cancer, Familial, Susceptibility to, 2;   Breast-Ovarian Cancer, Familial, Susceptibility to, 3;   Breast-Ovarian Cancer, Familial, Susceptibility to, 4;   OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1;   OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2;   OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
 primary_id: MESH:D061325
 alt_id: DOID:9004868;   DOID:9007390;   DOID:9007788;   DOID:9008122;   OMIM:604370;   OMIM:612555;   OMIM:613399;   OMIM:614291;   RDO:0008935;   RDO:0009667;   RDO:0009832;   RDO:0010069;   RDO:9000723
 xref: OMIM:PS604370
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary breast ovarian cancer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abraxas1 abraxas 1, BRCA1 A complex subunit JBrowse link 14 10,424,674 10,439,010 RGD:8554872
G Arl4d ADP-ribosylation factor like GTPase 4D JBrowse link 10 89,577,556 89,580,368 RGD:8554872
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
RGD:7240710
RGD:11554173
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
RGD:7240710
RGD:11554173
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:8554872
G Dhx8 DEAH-box helicase 8 JBrowse link 10 89,645,979 89,683,839 RGD:8554872
G Etv4 ets variant 4 JBrowse link 10 89,685,058 89,700,300 RGD:8554872
G Fndc8 fibronectin type III domain containing 8 JBrowse link 10 70,242,852 70,250,990 RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nbr1 NBR1, autophagy cargo receptor JBrowse link 10 89,455,202 89,483,791 RGD:8554872
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:8554872
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:8554872
G Rad51b RAD51 paralog B JBrowse link 6 102,473,978 103,018,185 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:8554872
RGD:7240710
RGD:11554173
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:8554872
RGD:7240710
RGD:11554173
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
G Rnd2 Rho family GTPase 2 JBrowse link 10 89,376,530 89,380,101 RGD:8554872
G Tex14 testis expressed 14, intercellular bridge forming factor JBrowse link 10 74,724,070 74,849,172 RGD:8554872
G Tmem106a transmembrane protein 106A JBrowse link 10 89,484,269 89,493,288 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      hereditary breast ovarian cancer syndrome 26
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        Female Urogenital Diseases and Pregnancy Complications 1534
          Female Urogenital Diseases 1285
            female reproductive system disease 1281
              Adnexal Diseases 599
                ovarian disease 593
                  Ovarian Neoplasms 372
                    ovarian cancer 234
                      hereditary breast ovarian cancer syndrome 26
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.