HBOC
MCID: HRD200
MIFTS: 58

Hereditary Breast Ovarian Cancer Syndrome (HBOC)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hereditary Breast Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Breast Ovarian Cancer Syndrome:

Name: Hereditary Breast Ovarian Cancer Syndrome 12 15
Hereditary Breast and Ovarian Cancer Syndrome 59 29 6 44 73
Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer 12 24
Hboc 24

Characteristics:

Orphanet epidemiological data:

59
hereditary breast and ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:5683
MeSH 44 D061325
NCIt 50 C8493
Orphanet 59 ORPHA145
ICD10 via Orphanet 34 C50 C56
UMLS via Orphanet 74 C0677776
UMLS 73 C0677776

Summaries for Hereditary Breast Ovarian Cancer Syndrome

Disease Ontology : 12 A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.

MalaCards based summary : Hereditary Breast Ovarian Cancer Syndrome, also known as hereditary breast and ovarian cancer syndrome, is related to li-fraumeni syndrome 2 and cowden disease. An important gene associated with Hereditary Breast Ovarian Cancer Syndrome is BRCA2 (BRCA2, DNA Repair Associated), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. Affiliated tissues include breast, testes and ovary, and related phenotypes are melanoma and breast carcinoma

GeneReviews: NBK1247

Related Diseases for Hereditary Breast Ovarian Cancer Syndrome

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, Familial 2
Breast-Ovarian Cancer, Familial 3 Breast-Ovarian Cancer, Familial 4

Diseases related to Hereditary Breast Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 30.3 CHEK2 TP53
2 cowden disease 29.9 BRCA1 BRCA2 PTEN XRCC2
3 familial adenomatous polyposis 29.5 MLH1 MSH6 TP53
4 li-fraumeni syndrome 29.4 ATM BRCA1 BRCA2 CHEK2 MLH1 PTEN
5 lynch syndrome 29.2 BRCA1 BRCA2 MLH1 MSH6 TP53 XRCC2
6 ovarian cancer 29.0 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
7 brca2 hereditary breast and ovarian cancer syndrome 11.8
8 pancreatic cancer 11.4
9 brca1 hereditary breast and ovarian cancer syndrome 11.2
10 hereditary site-specific ovarian cancer syndrome 10.3 BRCA1 BRCA2
11 breast reconstruction 10.3 BRCA1 BRCA2
12 tuberculous salpingitis 10.3 BRCA1 BRCA2
13 nosophobia 10.3 BRCA1 BRCA2
14 tracheoesophageal fistula with or without esophageal atresia 10.3 BRCA2 PALB2
15 cancerophobia 10.3 BRCA1 BRCA2
16 isolated tracheoesophageal fistula 10.3 BRCA2 PALB2
17 breast-ovarian cancer, familial 1 10.2 BRCA1 BRCA2 NBN
18 fanconi anemia, complementation group n 10.2 BRCA2 BRIP1 PALB2
19 fanconi anemia, complementation group j 10.2 BRCA1 BRIP1 PALB2
20 glycogen-rich clear cell breast carcinoma 10.2 BRCA1 BRCA2 TP53
21 pancreatic neuroendocrine tumor 10.2 BRCA2 PALB2
22 primary peritoneal carcinoma 10.2 BRCA1 BRCA2 TP53
23 tracheoesophageal fistula 10.2 BRCA2 BRIP1 PALB2
24 mutagen sensitivity 10.2 BRCA1 BRCA2 TP53
25 pre-malignant neoplasm 10.2 BRCA1 BRCA2 TP53
26 fallopian tube carcinoma 10.2 BRCA1 BRCA2 TP53
27 breast carcinoma in situ 10.2 BRCA1 BRCA2 TP53
28 ovarian cancer 1 10.2 BRCA1 BRCA2 TP53
29 malignant ovarian surface epithelial-stromal neoplasm 10.2 BRCA1 BRCA2 TP53
30 ovary epithelial cancer 10.2 BRCA1 BRCA2 TP53
31 fallopian tube adenocarcinoma 10.2 BRCA1 BRCA2
32 tumor predisposition syndrome 10.2 BRCA2 MRE11 PALB2
33 ductal carcinoma in situ 10.2 BRCA1 BRCA2 TP53
34 peritoneum cancer 10.2 BRCA1 BRCA2 PALB2 RAD51D
35 congenital hypoplastic anemia 10.1 BRCA2 BRIP1 RAD51
36 ataxia-telangiectasia-like disorder 1 10.1 MRE11 NBN
37 nijmegen breakage syndrome-like disorder 10.1 MRE11 RAD50
38 uterine corpus serous adenocarcinoma 10.1 BRCA1 TP53
39 clivus chordoma 10.1 ATM CHEK2 PTEN
40 peutz-jeghers syndrome 10.1 BRCA2 PTEN TP53
41 fanconi anemia, complementation group v 10.0 BRCA1 RAD51 XRCC2
42 fanconi anemia, complementation group r 10.0 BRCA1 RAD51 XRCC2
43 fanconi anemia, complementation group t 10.0 BRCA1 RAD51 XRCC2
44 lig4 syndrome 10.0 ATM NBN XRCC2
45 ovarian disease 10.0 BRCA1 BRCA2 PTEN TP53
46 female breast cancer 10.0 ATM BRCA1 BRCA2 PALB2 TP53
47 epiglottitis 10.0
48 haemophilus influenzae 10.0
49 renal cell carcinoma, papillary, 1 10.0 ATM PTEN TP53
50 richter's syndrome 10.0 ATM MLH1 TP53

Graphical network of the top 20 diseases related to Hereditary Breast Ovarian Cancer Syndrome:



Diseases related to Hereditary Breast Ovarian Cancer Syndrome

Symptoms & Phenotypes for Hereditary Breast Ovarian Cancer Syndrome

Human phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 melanoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002861
2 breast carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0003002
3 ovarian neoplasm 59 32 hallmark (90%) Very frequent (99-80%) HP:0100615
4 neoplasm of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0002894
5 abnormality of the fallopian tube 59 32 hallmark (90%) Very frequent (99-80%) HP:0011027
6 primary peritoneal carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0030406
7 prostate cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012125

GenomeRNAi Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.83 BRCA1 RAD51 XRCC2 BARD1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.83 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.83 BRCA1 RAD51 BARD1 BRCA2 PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.83 BRCA1 RAD51 ATM BARD1 BRCA2 PALB2
5 Decreased homologous recombination repair frequency GR00236-A-3 10.83 BRCA1 RAD51 BARD1 BRCA2 PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.42 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.42 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.19 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
9 Decreased viability with cisplatin GR00101-A-4 9.72 BARD1 BRCA1 BRCA2 BRIP1 RAD51
10 Synthetic lethal with cisplatin GR00101-A-1 9.55 BARD1 BRCA1 BRCA2 BRIP1 RAD51
11 Decreased viability after ionizing radiation GR00232-A-2 9.54 ATM BRCA1 BRCA2
12 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 BARD1 BRCA1 BRCA2 MRE11 RAD51D

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2 embryo MP:0005380 10.36 ATM BARD1 BRCA1 BRCA2 MRE11 NBN
3 growth/size/body region MP:0005378 10.29 ATM BARD1 BRCA1 BRCA2 NBN PALB2
4 homeostasis/metabolism MP:0005376 10.25 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
5 endocrine/exocrine gland MP:0005379 10.24 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
6 hematopoietic system MP:0005397 10.2 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
7 mortality/aging MP:0010768 10.19 ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
8 immune system MP:0005387 10.14 ATM BRCA1 BRCA2 CHEK2 MLH1 MRE11
9 integument MP:0010771 10.07 ATM BRCA1 BRCA2 MLH1 MSH6 PALB2
10 neoplasm MP:0002006 10.03 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11 limbs/digits/tail MP:0005371 9.92 BRCA1 BRCA2 PALB2 PTEN RAD50 RAD51D
12 nervous system MP:0003631 9.8 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
13 reproductive system MP:0005389 9.36 ATM BRCA1 BRCA2 BRIP1 MLH1 MRE11

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Hereditary Breast Ovarian Cancer Syndrome

Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

Genetic Tests for Hereditary Breast Ovarian Cancer Syndrome

Genetic tests related to Hereditary Breast Ovarian Cancer Syndrome:

# Genetic test Affiliating Genes
1 Hereditary Breast and Ovarian Cancer Syndrome 29 BRCA1 BRCA2

Anatomical Context for Hereditary Breast Ovarian Cancer Syndrome

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer Syndrome:

41
Breast, Testes, Ovary, Bone, Pancreas, Brain, Colon

Publications for Hereditary Breast Ovarian Cancer Syndrome

Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show top 50) (show all 52)
# Title Authors Year
1
Reducing the Risk of Gynecologic Cancer in Hereditary Breast Ovarian Cancer Syndrome Mutation Carriers: Moral Dilemmas and the Principle of Double Effect. ( 30275608 )
2018
2
A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. ( 30400234 )
2018
3
A tandem duplication of BRCA1 exons 1-19 through DHX8 exon 2 in four families with hereditary breast and ovarian cancer syndrome. ( 30191368 )
2018
4
Hereditary Breast and Ovarian Cancer Syndrome: Moving Beyond BRCA1 and BRCA2. ( 28914618 )
2018
5
"Second-Class Status?" Insight into Communication Patterns and Common Concerns Among Men with Hereditary Breast and Ovarian Cancer Syndrome. ( 29404823 )
2018
6
Practice Bulletin No 182: Hereditary Breast and Ovarian Cancer Syndrome. ( 28832484 )
2017
7
Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. ( 28488140 )
2017
8
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome. ( 29273311 )
2017
9
Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome. ( 28314314 )
2017
10
Georgia Primary Care Providers' Knowledge of Hereditary Breast and Ovarian Cancer Syndrome. ( 26637472 )
2017
11
Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population. ( 28231738 )
2017
12
A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene ( 28390335 )
2017
13
Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome. ( 28620890 )
2017
14
Practice Bulletin No. 182 Summary: Hereditary Breast and Ovarian Cancer Syndrome. ( 28832475 )
2017
15
Final report of the Committee on Gynecologic Oncology, the Japan Society of Obstetrics and Gynecology, on a fact-finding questionnaire on the status of treatment of hereditary breast and ovarian cancer syndrome in Japan. ( 28833906 )
2017
16
MA1llerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery. ( 26875157 )
2016
17
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome. ( 26943589 )
2016
18
Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario. ( 26941049 )
2016
19
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. ( 27303907 )
2016
20
Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome. ( 27417607 )
2016
21
Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the creighton university hereditary cancer registry with review of the implications. ( 25756400 )
2015
22
A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome. ( 25011978 )
2015
23
Identifying Women at Risk for Hereditary Breast and Ovarian Cancer Syndrome Utilizing Breast Care Nurse Navigation at Mammography and Imaging Centers. ( 27045154 )
2015
24
Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. ( 25549704 )
2014
25
Early detection of high-grade tubal serous carcinoma in women at low risk for hereditary breast and ovarian cancer syndrome by systematic examination of fallopian tubes incidentally removed during benign surgery. ( 24820399 )
2014
26
Hereditary breast and ovarian cancer syndrome: considering the complexities. ( 25497409 )
2014
27
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. ( 24021253 )
2013
28
Experience of risk-reducing salpingo-oophorectomy for a BRCA1 mutation carrier and establishment of a system performing a preventive surgery for hereditary breast and ovarian cancer syndrome in Japan: our challenges for the future. ( 23487443 )
2013
29
A Pilot study of the Sharing Risk Information Tool (ShaRIT) for Families with Hereditary Breast and Ovarian Cancer Syndrome. ( 22494806 )
2012
30
An overview of hereditary breast and ovarian cancer syndrome. ( 23050669 )
2012
31
A pilot study of knowledge and interest of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among Puerto Rican women. ( 22109874 )
2011
32
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. ( 22185575 )
2011
33
Hereditary breast-ovarian cancer syndrome in Russia. ( 22649661 )
2010
34
Hereditary breast and ovarian cancer syndrome and issues in pediatric and adolescent practice. ( 20632459 )
2010
35
Preconception counseling for the couple at risk preventing the hereditary breast and ovarian cancer syndrome. ( 20975358 )
2010
36
Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. ( 19292801 )
2009
37
Hereditary breast and ovarian cancer syndrome : the impact of race on uptake of genetic counseling and testing. ( 19109796 )
2009
38
Survivorship considerations in adults with hereditary breast and ovarian cancer syndrome: state of the science. ( 19165605 )
2009
39
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. ( 19305347 )
2009
40
Hereditary breast and ovarian cancer syndrome. ( 19309638 )
2009
41
Coordinated prophylactic surgical management for women with hereditary breast-ovarian cancer syndrome. ( 18410690 )
2008
42
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. ( 17898808 )
2007
43
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. ( 17561994 )
2007
44
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". ( 16188301 )
2005
45
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. ( 15863145 )
2005
46
Hereditary breast and ovarian cancer syndrome: should we test adolescents? ( 15125901 )
2004
47
Prophylactic surgery in hereditary breast/ovarian cancer syndrome. ( 12886864 )
2003
48
Analysis of BRCA1 and BRCA2 mutations in an Iranian family with hereditary breast and ovarian cancer syndrome. ( 12599199 )
2003
49
Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? ( 11104623 )
2000
50
Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. ( 10985881 )
2000

Variations for Hereditary Breast Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

6 (show top 50) (show all 13757)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
2 CHEK2 NM_007194.4(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh38 Chromosome 22, 28695219: 28695219
3 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh37 Chromosome 13, 32921030: 32921035
4 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh38 Chromosome 13, 32346893: 32346898
5 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
6 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh38 Chromosome 13, 32340630: 32340631
7 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
8 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh38 Chromosome 13, 32340946: 32340947
9 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
10 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh38 Chromosome 13, 32340077: 32340078
11 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
12 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh38 Chromosome 13, 32337163: 32337166
13 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
14 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh38 Chromosome 13, 32340301: 32340301
15 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
16 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh38 Chromosome 13, 32331008: 32331012
17 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
18 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh38 Chromosome 13, 32371005: 32371006
19 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh37 Chromosome 13, 32906729: 32906729
20 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh38 Chromosome 13, 32332592: 32332592
21 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
22 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
23 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
24 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh38 Chromosome 13, 32339003: 32339003
25 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
26 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
27 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
28 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
29 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
30 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh38 Chromosome 13, 32326614: 32326614
31 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
32 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh38 Chromosome 13, 32326615: 32326615
33 BRCA1 NM_007294.3(BRCA1): c.4327C> G (p.Arg1443Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs41293455 GRCh38 Chromosome 17, 43082434: 43082434
34 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
35 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh37 Chromosome 17, 41258495: 41258495
36 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh38 Chromosome 17, 43106478: 43106478
37 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
38 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh38 Chromosome 17, 43106487: 43106487
39 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
40 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh38 Chromosome 17, 43124030: 43124031
41 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
42 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh38 Chromosome 17, 43094317: 43094356
43 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
44 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh38 Chromosome 17, 43093234: 43093235
45 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
46 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh38 Chromosome 17, 43092849: 43092850
47 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
48 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh37 Chromosome 17, 41244543: 41244543
49 BRCA1 NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh37 Chromosome 17, 41244429: 41244429
50 BRCA1 NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh38 Chromosome 17, 43092412: 43092412

Expression for Hereditary Breast Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Hereditary Breast Ovarian Cancer Syndrome.

Pathways for Hereditary Breast Ovarian Cancer Syndrome

Pathways related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
2
Show member pathways
13.55 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3
Show member pathways
13.41 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4
Show member pathways
13.12 ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
5
Show member pathways
12.96 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6
Show member pathways
12.89 BRCA2 MLH1 MSH6 PTEN RAD51 TP53
7 12.86 BRCA2 MLH1 MSH6 PTEN RAD51 TP53
8
Show member pathways
12.86 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
9
Show member pathways
12.81 ATM BARD1 BRCA1 BRIP1 CHEK2 MRE11
10
Show member pathways
12.8 ATM BRCA1 BRCA2 MSH6 PTEN TP53
11
Show member pathways
12.74 BRCA1 BRCA2 MLH1 PTEN TP53
12
Show member pathways
12.66 ATM BRCA1 BRCA2 MLH1 MRE11 NBN
13 12.57 ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
14
Show member pathways
12.56 ATM BRCA1 CHEK2 MRE11 NBN PTEN
15
Show member pathways
12.55 ATM BARD1 BRCA1 CHEK2 MRE11 NBN
16
Show member pathways
12.54 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
17 12.47 ATM BRCA1 PTEN TP53
18
Show member pathways
12.4 ATM MRE11 NBN RAD50 TP53
19
Show member pathways
12.4 ATM BARD1 BRCA1 BRCA2 BRIP1 MRE11
20 12.35 ATM CHEK2 MRE11 NBN PTEN RAD50
21
Show member pathways
12.31 ATM BRCA1 CHEK2 PTEN TP53
22 12.08 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
23 12.07 BRCA1 BRCA2 BRIP1 MLH1 PALB2 RAD51
24
Show member pathways
12.04 ATM BRCA1 CHEK2 MRE11 NBN RAD50
25 11.93 ATM PTEN TP53
26
Show member pathways
11.92 ATM BARD1 BRCA1 BRCA2 CHEK2 MRE11
27 11.88 ATM BRCA1 MLH1 MSH6 TP53
28 11.87 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
29 11.83 ATM BRCA1 CHEK2 PTEN TP53
30 11.81 BARD1 MSH6 TP53
31 11.76 ATM MRE11 NBN RAD50
32
Show member pathways
11.72 ATM CHEK2 TP53
33 11.69 ATM BARD1 BRCA1 CHEK2 NBN TP53
34 11.67 ATM CHEK2 MRE11 NBN RAD50
35 11.62 ATM CHEK2 TP53
36
Show member pathways
11.5 ATM CHEK2 TP53
37 11.34 ATM BRCA1 TP53
38 11.31 BRCA1 MRE11 NBN RAD50
39 11.27 ATM BARD1 BRCA1 CHEK2 MRE11 MSH6
40
Show member pathways
11.18 MRE11 NBN RAD50
41
Show member pathways
11.12 ATM MRE11 NBN RAD50
42 11.1 ATM BRCA1 TP53
43 10.69 ATM BARD1 BRCA1 MRE11 NBN RAD50
44 10.37 CHEK2 TP53

GO Terms for Hereditary Breast Ovarian Cancer Syndrome

Cellular components related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.98 BRCA1 MLH1 MRE11 MSH6 NBN RAD50
2 nuclear chromatin GO:0000790 9.86 MSH6 RAD50 RAD51 TP53
3 site of double-strand break GO:0035861 9.8 MRE11 NBN RAD50 RAD51
4 condensed nuclear chromosome GO:0000794 9.78 BRCA1 MLH1 RAD50 RAD51
5 PML body GO:0016605 9.73 CHEK2 MRE11 NBN PTEN RAD51 TP53
6 condensed chromosome GO:0000793 9.71 BRCA1 MLH1 RAD51
7 lateral element GO:0000800 9.69 BRCA1 BRCA2 RAD51
8 replication fork GO:0005657 9.67 NBN RAD51C RAD51D XRCC2
9 Mre11 complex GO:0030870 9.63 MRE11 NBN RAD50
10 chromosome, telomeric region GO:0000781 9.63 ATM CHEK2 MRE11 NBN RAD50 RAD51D
11 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 9.58 RAD51C RAD51D XRCC2
12 nucleoplasm GO:0005654 9.58 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
13 mismatch repair complex GO:0032300 9.57 MLH1 MSH6
14 BRCA1-A complex GO:0070531 9.55 BARD1 BRCA1
15 BRCA1-BARD1 complex GO:0031436 9.52 BARD1 BRCA1
16 nuclear chromosome, telomeric region GO:0000784 9.5 ATM BRCA2 MRE11 NBN RAD50 RAD51
17 nucleus GO:0005634 10.28 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2

Biological processes related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 double-strand break repair GO:0006302 9.98 BRCA1 BRCA2 BRIP1 CHEK2 MRE11 NBN
2 cell cycle arrest GO:0007050 9.96 ATM BARD1 NBN TP53
3 double-strand break repair via nonhomologous end joining GO:0006303 9.95 ATM BARD1 BRCA1 MLH1 MRE11 NBN
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.93 ATM BRCA1 BRCA2 CHEK2 MLH1 MSH6
5 DNA duplex unwinding GO:0032508 9.91 BRIP1 MRE11 NBN RAD50
6 telomere maintenance GO:0000723 9.91 ATM MRE11 NBN RAD50 RAD51D
7 multicellular organism growth GO:0035264 9.88 BRCA2 PALB2 XRCC2
8 DNA damage checkpoint GO:0000077 9.88 ATM BRIP1 CHEK2 NBN
9 regulation of signal transduction by p53 class mediator GO:1901796 9.87 ATM CHEK2 TP53
10 response to gamma radiation GO:0010332 9.87 BRCA2 CHEK2 TP53 XRCC2
11 reciprocal meiotic recombination GO:0007131 9.87 ATM MLH1 MRE11 RAD50 RAD51 RAD51C
12 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.86 ATM CHEK2 TP53
13 interstrand cross-link repair GO:0036297 9.85 MSH6 RAD51 RAD51D
14 nucleotide-excision repair GO:0006289 9.85 BRCA2 BRIP1 TP53
15 DNA double-strand break processing GO:0000729 9.85 ATM BARD1 BRCA1 MRE11 NBN RAD50
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.84 BRCA1 BRCA2 CHEK2 TP53
17 intrinsic apoptotic signaling pathway GO:0097193 9.83 MSH6 NBN TP53
18 chromosome organization GO:0051276 9.83 BRCA2 MRE11 RAD51D
19 cellular response to gamma radiation GO:0071480 9.83 ATM CHEK2 TP53
20 synapsis GO:0007129 9.82 BRIP1 MLH1 MRE11
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.82 BRCA2 CHEK2 TP53
22 positive regulation of protein autophosphorylation GO:0031954 9.81 MRE11 NBN RAD50
23 positive regulation of kinase activity GO:0033674 9.8 MRE11 NBN RAD50
24 mitotic G2 DNA damage checkpoint GO:0007095 9.8 MRE11 MSH6 NBN
25 telomere maintenance via recombination GO:0000722 9.8 BRCA2 RAD50 RAD51 RAD51C
26 isotype switching GO:0045190 9.79 MLH1 MSH6 NBN
27 replicative senescence GO:0090399 9.79 ATM CHEK2 TP53
28 positive regulation of telomere maintenance GO:0032206 9.77 MRE11 NBN RAD50
29 negative regulation of telomere capping GO:1904354 9.75 ATM NBN RAD50
30 strand invasion GO:0042148 9.73 RAD51 RAD51D XRCC2
31 somatic hypermutation of immunoglobulin genes GO:0016446 9.72 MLH1 MSH6
32 telomeric 3' overhang formation GO:0031860 9.72 MRE11 NBN RAD50
33 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.71 NBN TP53
34 determination of adult lifespan GO:0008340 9.71 MSH6 TP53
35 inner cell mass cell proliferation GO:0001833 9.71 BRCA2 PALB2
36 signal transduction in response to DNA damage GO:0042770 9.71 CHEK2 NBN
37 DNA damage induced protein phosphorylation GO:0006975 9.7 ATM CHEK2
38 protein K6-linked ubiquitination GO:0085020 9.69 BARD1 BRCA1
39 chromosome organization involved in meiotic cell cycle GO:0070192 9.69 RAD50 RAD51
40 negative regulation of DNA endoreduplication GO:0032876 9.69 MRE11 MSH6
41 chordate embryonic development GO:0043009 9.67 BRCA1 BRCA2
42 regulation of mitotic recombination GO:0000019 9.67 MRE11 RAD50
43 somatic recombination of immunoglobulin gene segments GO:0016447 9.67 MLH1 MSH6
44 double-strand break repair via homologous recombination GO:0000724 9.65 BRCA1 BRCA2 MRE11 NBN PALB2 RAD50
45 mitotic recombination-dependent replication fork processing GO:1990426 9.64 BRCA2 RAD51
46 DNA recombination GO:0006310 9.28 BRCA1 BRCA2 MRE11 PALB2 RAD50 RAD51
47 cell cycle GO:0007049 10.19 ATM BRCA1 BRCA2 CHEK2 MLH1 NBN
48 cellular response to DNA damage stimulus GO:0006974 10.19 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
49 negative regulation of apoptotic process GO:0043066 10.11 BARD1 MRE11 PALB2 PTEN TP53
50 cell proliferation GO:0008283 10.08 BRCA2 MRE11 NBN PTEN TP53

Molecular functions related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.92 BRIP1 MLH1 MSH6 RAD51 TP53
2 nucleotide binding GO:0000166 9.91 ATM BRIP1 CHEK2 RAD50 RAD51
3 enzyme binding GO:0019899 9.85 BRCA1 MLH1 MSH6 PTEN RAD51 TP53
4 DNA binding GO:0003677 9.77 ATM BRCA1 BRCA2 BRIP1 MRE11 MSH6
5 protein N-terminus binding GO:0047485 9.75 ATM NBN TP53
6 single-stranded DNA binding GO:0003697 9.73 BRCA2 MLH1 RAD51 RAD51D
7 damaged DNA binding GO:0003684 9.71 BRCA1 MSH6 NBN
8 ATP-dependent DNA helicase activity GO:0004003 9.62 BRIP1 MRE11 NBN RAD50
9 mismatched DNA binding GO:0030983 9.57 MLH1 MSH6
10 double-stranded telomeric DNA binding GO:0003691 9.56 MRE11 RAD50
11 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.55 MRE11 RAD50
12 guanine/thymine mispair binding GO:0032137 9.49 MLH1 MSH6
13 single-stranded telomeric DNA binding GO:0043047 9.48 MRE11 RAD50
14 four-way junction DNA binding GO:0000400 9.46 MSH6 RAD51C RAD51D XRCC2
15 DNA-dependent ATPase activity GO:0008094 9.02 MSH6 RAD51 RAD51C RAD51D XRCC2
16 protein binding GO:0005515 10.36 ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
17 identical protein binding GO:0042802 10 BRCA1 BRCA2 CHEK2 MRE11 PTEN RAD51
18 ATP binding GO:0005524 10 ATM BRIP1 CHEK2 MLH1 MSH6 RAD50

Sources for Hereditary Breast Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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