MCID: BRC084
MIFTS: 32

Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Categories: Rare diseases, Genetic diseases, Cancer diseases

Aliases & Classifications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards integrated aliases for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca1 Hereditary Breast and Ovarian Cancer Syndrome 49
Familial Susceptibility to Breast-Ovarian Cancer 1 49
Brovca1 49

Classifications:



Summaries for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

NIH Rare Diseases : 49 BRCA1 hereditary breast and ovarian cancersyndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries. Last updated: 3/10/2015

MalaCards based summary : Brca1 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 1, is related to breast-ovarian cancer, familial 1 and pancreatic cancer. An important gene associated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Doxorubicin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include breast, cervix and prostate, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 breast-ovarian cancer, familial 1 30.8 BRCA1 BRCA2 NBN
2 pancreatic cancer 11.3
3 nijmegen breakage syndrome 9.9 BRCA1 NBN
4 hereditary site-specific ovarian cancer syndrome 9.8 BRCA1 BRCA2
5 breast reconstruction 9.8 BRCA1 BRCA2
6 tuberculous salpingitis 9.8 BRCA1 BRCA2
7 nosophobia 9.8 BRCA1 BRCA2
8 cancerophobia 9.8 BRCA1 BRCA2
9 uterine corpus serous adenocarcinoma 9.8 BRCA1 BRCA2
10 lynch syndrome i 9.8 BRCA1 BRCA2
11 fallopian tube adenocarcinoma 9.8 BRCA1 BRCA2
12 synchronous bilateral breast carcinoma 9.8 BRCA1 BRCA2
13 peritoneum cancer 9.8 BRCA1 BRCA2
14 glycogen-rich clear cell breast carcinoma 9.8 BRCA1 BRCA2
15 premature menopause 9.8 BRCA1 BRCA2
16 clear cell adenofibroma 9.8 BRCA1 BRCA2
17 cystadenofibroma 9.8 BRCA1 BRCA2
18 dysgerminoma of ovary 9.8 BRCA1 BRCA2
19 primary peritoneal carcinoma 9.8 BRCA1 BRCA2
20 bilateral breast cancer 9.8 BRCA1 BRCA2
21 mutagen sensitivity 9.7 BRCA1 BRCA2
22 pre-malignant neoplasm 9.7 BRCA1 BRCA2
23 fallopian tube carcinoma 9.7 BRCA1 BRCA2
24 ataxia-telangiectasia 9.7 BRCA1 NBN
25 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA1 BRCA2
26 ovary epithelial cancer 9.7 BRCA1 BRCA2
27 breast carcinoma in situ 9.7 BRCA1 BRCA2
28 sporadic breast cancer 9.7 BRCA1 BRCA2
29 ductal carcinoma in situ 9.7 BRCA1 BRCA2
30 ovarian cancer 1 9.7 BRCA1 BRCA2
31 female reproductive organ cancer 9.6 BRCA1 BRCA2
32 cowden disease 9.6 BRCA1 BRCA2
33 li-fraumeni syndrome 9.6 BRCA1 BRCA2
34 reproductive organ cancer 9.6 BRCA1 BRCA2
35 lynch syndrome 9.4 BRCA1 BRCA2
36 hereditary breast ovarian cancer syndrome 9.4 BRCA1 BRCA2 NBN
37 fanconi anemia, complementation group a 9.4 BRCA1 BRCA2 NBN
38 prostate cancer 8.9 BRCA1 BRCA2 NBN

Graphical network of the top 20 diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Symptoms & Phenotypes for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

GenomeRNAi Phenotypes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.97 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.97 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.97 BRCA1 BRCA2
4 Decreased homologous recombination repair frequency GR00236-A-2 9.97 BRCA1 BRCA2
5 Decreased homologous recombination repair frequency GR00236-A-3 9.97 BRCA1 BRCA2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 NBN BRCA1 BRCA2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 NBN BRCA1 BRCA2
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.33 BRCA1 BRCA2 NBN
9 Decreased viability after ionizing radiation GR00232-A-2 9.32 BRCA1 BRCA2
10 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
11 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2

MGI Mouse Phenotypes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 BRCA1 BRCA2 NBN

Drugs & Therapeutics for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Drugs for Brca1 Hereditary Breast and Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
2
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
3
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Doxil Approved June 1999 Phase 2 31703
6 Alkylating Agents Phase 2
7 Albumin-Bound Paclitaxel Phase 2
8 Topoisomerase Inhibitors Phase 2
9 Anti-Bacterial Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 Antimitotic Agents Phase 2
12 Antibiotics, Antitubercular Phase 2
13 Antineoplastic Agents, Phytogenic Phase 2
14 Antirheumatic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neoadjuvant Carboplatin in Triple Negative Breast Cancer Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide

Search NIH Clinical Center for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Genetic Tests for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Anatomical Context for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards organs/tissues related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

38
Breast, Cervix, Prostate, Uterus, Pancreas

Publications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

ClinVar genetic disease variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

6 (show top 50) (show all 2250)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
2 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
3 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
4 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
5 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
6 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
7 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
8 BRCA2 NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter) single nucleotide variant Pathogenic rs397507430 GRCh37 Chromosome 13, 32971056: 32971056
9 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
10 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
11 BRCA1 BRCA1, 59-BP INS insertion Pathogenic
12 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
13 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
14 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
15 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
16 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
17 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh37 Chromosome 17, 41243800: 41243800
18 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh37 Chromosome 17, 41243789: 41243792
19 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh37 Chromosome 17, 41243480: 41243483
20 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
21 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
22 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh37 Chromosome 17, 41222947: 41222965
23 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh37 Chromosome 17, 41245159: 41245159
24 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh37 Chromosome 17, 41246702: 41246705
25 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh37 Chromosome 17, 41244057: 41244067
26 BRCA1 NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs) deletion Pathogenic rs80357662 GRCh37 Chromosome 17, 41245992: 41245992
27 BRCA1 BRCA1, 6-KB DUP, EX13 insertion Pathogenic
28 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80357382 GRCh37 Chromosome 17, 41258474: 41258474
29 BRCA1 NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg) single nucleotide variant Pathogenic rs41293463 GRCh37 Chromosome 17, 41203088: 41203088
30 BRCA1 NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys) single nucleotide variant Pathogenic rs41293463 GRCh37 Chromosome 17, 41203088: 41203088
31 BRCA1 NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs) deletion Pathogenic rs80357618 GRCh37 Chromosome 17, 41246532: 41246532
32 BRCA1 NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs) deletion Pathogenic rs80357774 GRCh37 Chromosome 17, 41246530: 41246530
33 BRCA1 NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs) deletion Pathogenic rs397507180 GRCh38 Chromosome 17, 43094316: 43094356
34 BRCA1 NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs) deletion Pathogenic rs80357612 GRCh37 Chromosome 17, 41246427: 41246427
35 BRCA1 NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis) deletion Pathogenic rs397507181 GRCh37 Chromosome 17, 41246332: 41246373
36 BRCA1 NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs) deletion Pathogenic rs397507182 GRCh37 Chromosome 17, 41246331: 41246373
37 BRCA1 NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs) deletion Pathogenic rs397507183 GRCh37 Chromosome 17, 41246330: 41246373
38 BRCA1 NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs) insertion Pathogenic rs80357597 GRCh37 Chromosome 17, 41246207: 41246208
39 BRCA1 NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter) single nucleotide variant Pathogenic rs80357035 GRCh38 Chromosome 17, 43092821: 43092821
40 BRCA1 NM_007294.3(BRCA1): c.135-1G> T single nucleotide variant Pathogenic rs80358158 GRCh37 Chromosome 17, 41258551: 41258551
41 BRCA1 NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs) deletion Pathogenic rs80357969 GRCh37 Chromosome 17, 41246187: 41246188
42 BRCA1 NM_007294.3(BRCA1): c.1387_1390delAAAAins5 indel Pathogenic rs397508866 GRCh37 Chromosome 17, 41246158: 41246161
43 BRCA1 NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs) indel Pathogenic rs273897659 GRCh37 Chromosome 17, 41246158: 41246159
44 BRCA1 NM_007294.3(BRCA1): c.143delT (p.Met48Serfs) deletion Pathogenic rs80357637 GRCh37 Chromosome 17, 41258542: 41258542
45 BRCA1 NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs) deletion Pathogenic rs80357801 GRCh37 Chromosome 17, 41246101: 41246104
46 BRCA1 NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter) single nucleotide variant Pathogenic rs80357010 GRCh37 Chromosome 17, 41246068: 41246068
47 BRCA1 NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs) deletion Pathogenic rs80357888 GRCh37 Chromosome 17, 41246040: 41246044
48 BRCA1 NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs) deletion Pathogenic rs80357908 GRCh37 Chromosome 17, 41246038: 41246038
49 BRCA1 NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs) deletion Pathogenic rs80357600 GRCh37 Chromosome 17, 41245874: 41245874
50 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 GRCh37 Chromosome 17, 41245861: 41245861

Expression for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Brca1 Hereditary Breast and Ovarian Cancer Syndrome.

Pathways for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Pathways related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 BRCA1 BRCA2 NBN
2
Show member pathways
12.7 BRCA1 BRCA2 NBN
3
Show member pathways
12.43 BRCA1 BRCA2 NBN
4
Show member pathways
12.19 BRCA1 BRCA2 NBN
5 11.97 BRCA1 BRCA2 NBN
6
Show member pathways
11.93 BRCA1 NBN
7
Show member pathways
11.92 BRCA1 NBN
8
Show member pathways
11.9 BRCA1 BRCA2 NBN
9 11.72 BRCA1 BRCA2
10
Show member pathways
11.63 BRCA1 BRCA2 NBN
11 11.49 BRCA1 BRCA2
12
Show member pathways
11.43 BRCA1 NBN
13
Show member pathways
11.31 BRCA1 BRCA2 NBN
14 11.1 BRCA1 NBN
15 10.9 BRCA1 NBN
16 10.75 BRCA1 NBN
17
Show member pathways
10.72 BRCA1 BRCA2 NBN

GO Terms for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Cellular components related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.96 BRCA2 NBN
2 lateral element GO:0000800 8.62 BRCA1 BRCA2

Biological processes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.67 BRCA1 BRCA2 NBN
2 cellular response to DNA damage stimulus GO:0006974 9.63 BRCA1 BRCA2 NBN
3 DNA repair GO:0006281 9.61 BRCA1 BRCA2 NBN
4 DNA replication GO:0006260 9.55 BRCA1 NBN
5 regulation of signal transduction by p53 class mediator GO:1901796 9.54 BRCA1 NBN
6 DNA recombination GO:0006310 9.52 BRCA1 BRCA2
7 double-strand break repair via nonhomologous end joining GO:0006303 9.51 BRCA1 NBN
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.48 BRCA1 BRCA2
9 double-strand break repair via homologous recombination GO:0000724 9.43 BRCA1 BRCA2 NBN
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.4 BRCA1 BRCA2
11 DNA double-strand break processing GO:0000729 9.37 BRCA1 NBN
12 double-strand break repair GO:0006302 9.33 BRCA1 BRCA2 NBN
13 chordate embryonic development GO:0043009 9.32 BRCA1 BRCA2
14 DNA synthesis involved in DNA repair GO:0000731 9.13 BRCA1 BRCA2 NBN
15 strand displacement GO:0000732 8.8 BRCA1 BRCA2 NBN

Molecular functions related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 damaged DNA binding GO:0003684 8.62 BRCA1 NBN

Sources for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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