MCID: BRS071
MIFTS: 34

Breast-Ovarian Cancer, Familial, 1

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

Aliases & Classifications for Breast-Ovarian Cancer, Familial, 1

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial, 1:

Name: Breast-Ovarian Cancer, Familial, 1 54 71 13
Ovarian Cancer Familial 1 71
Breast Cancer Familial 1 71
Brovca1 71

Characteristics:

OMIM:

54
Miscellaneous:
increased risk of bilateral breast cancer
lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
lifetime risk of breast cancer in mutation carriers is 80 to 90%
mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age

Inheritance:
multifactorial
autosomal dominant


HPO:

32
breast-ovarian cancer, familial, 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 54 604370
SNOMED-CT via HPO 65 263681008 254838004

Summaries for Breast-Ovarian Cancer, Familial, 1

UniProtKB/Swiss-Prot : 71 Breast-ovarian cancer, familial, 1: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary : Breast-Ovarian Cancer, Familial, 1, also known as ovarian cancer familial 1, is related to brca1 hereditary breast and ovarian cancer syndrome and leukemia, acute lymphoblastic, and has symptoms including breast carcinoma An important gene associated with Breast-Ovarian Cancer, Familial, 1 is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. Affiliated tissues include breast, prostate and ovary, and related phenotypes are Decreased homologous recombination repair frequency and neoplasm

Description from OMIM: 604370

Related Diseases for Breast-Ovarian Cancer, Familial, 1

Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial 4
Breast-Ovarian Cancer, Familial, 1 Breast-Ovarian Cancer, Familial 3
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

Diseases related to Breast-Ovarian Cancer, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
id Related Disease Score Top Affiliating Genes
1 brca1 hereditary breast and ovarian cancer syndrome 11.1
2 leukemia, acute lymphoblastic 10.0 BRCA1 NBN
3 primitive neuroectodermal tumor of the corpus uteri 9.8 BRCA1 BRCA2
4 baraitser-winter cerebrofrontofacial syndrome 9.8 BRCA1 BRCA2
5 bronchopulmonary dysplasia 9.8 BRCA1 BRCA2
6 cutaneous lupus erythematosus 9.8 BRCA1 BRCA2
7 autoimmune disease of blood 9.8 BRCA1 BRCA2
8 selective immunoglobulin deficiency disease 9.8 BRCA1 BRCA2
9 endocervicitis 9.8 BRCA1 BRCA2
10 cataract 27, nuclear progressive 9.8 BRCA1 BRCA2
11 breast pericanalicular fibroadenoma 9.8 BRCA1 BRCA2
12 extracranial neuroblastoma 9.8 BRCA1 BRCA2
13 chest wall lymphoma 9.8 BRCA1 BRCA2
14 retinal detachment 9.8 BRCA1 BRCA2
15 brenner tumor of the vagina 9.8 BRCA1 BRCA2
16 bacteremia 9.8 BRCA1 BRCA2
17 eccrine sweat gland neoplasm 9.8 BRCA1 BRCA2
18 chronic frontal sinusitis 9.8 BRCA1 BRCA2
19 ovarian endometrioid adenofibroma 9.8 BRCA1 BRCA2
20 mediastinum synovial sarcoma 9.8 BRCA1 BRCA2
21 distal monosomy 7q36 9.8 BRCA1 BRCA2
22 nasal cavity squamous cell carcinoma 9.7 BRCA1 BRCA2
23 amyloid tumor 9.7 BRCA1 BRCA2
24 mycetoma 9.7 BRCA1 BRCA2
25 ductal carcinoma in situ 9.7 BRCA1 BRCA2
26 syndromic x-linked intellectual disability 14 9.7 BRCA1 BRCA2
27 fallopian tube carcinosarcoma 9.7 BRCA1 BRCA2
28 dental caries 9.7 BRCA1 BRCA2
29 nasal cavity disease 9.7 BRCA1 BRCA2
30 trachea carcinoma in situ 9.7 BRCA1 BRCA2
31 childhood ovarian embryonal carcinoma 9.6 BRCA1 BRCA2
32 estrogen-receptor negative breast cancer 9.6 BRCA1 BRCA2
33 short-rib thoracic dysplasia 3 with or without polydactyly 9.6 BRCA1 NBN
34 trachea squamous cell carcinoma 9.6 BRCA1 BRCA2
35 viral encephalitis 9.6 BRCA1 BRCA2
36 nasopharyngeal carcinoma 9.5 BRCA1 BRCA2
37 bardet-biedl syndrome 9.5 BRCA1 BRCA2
38 nail disorder, nonsyndromic congenital, 1 9.4 BRCA1 BRCA2
39 pancreatic cancer 4 9.3 BRCA1 BRCA2 NBN
40 brenner tumor of ovary 9.3 BRCA1 BRCA2 NBN
41 cellular myxoid liposarcoma 9.3 BRCA1 BRCA2 NBN
42 mental retardation, autosomal recessive 45 9.3 BRCA1 BRCA2 NBN
43 apocrine adenoma 9.1 BRCA1 BRCA2
44 prostate cancer 8.9 BRCA1 BRCA2 NBN

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial, 1:



Diseases related to Breast-Ovarian Cancer, Familial, 1

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial, 1

Symptoms via clinical synopsis from OMIM:

54

Neoplasia:
ovarian cancer
breast cancer


Clinical features from OMIM:

604370

Human phenotypes related to Breast-Ovarian Cancer, Familial, 1:

32
id Description HPO Frequency HPO Source Accession
1 breast carcinoma 32 HP:0003002

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

26
id 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 BRCA1 BRCA2 NBN
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 BRCA1 BRCA2 NBN
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 Breast-Ovarian Cancer, Familial, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.8 BRCA1 BRCA2 NBN

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial, 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Risk Education and Assessment for Cancer Heredity Completed NCT01346761

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial, 1

Genetic Tests for Breast-Ovarian Cancer, Familial, 1

Anatomical Context for Breast-Ovarian Cancer, Familial, 1

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 1:

39
Breast, Prostate, Ovary

Publications for Breast-Ovarian Cancer, Familial, 1

Variations for Breast-Ovarian Cancer, Familial, 1

UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

71
id Symbol AA change Variation ID SNP ID
1 BRCA1 p.Glu10Lys VAR_020679
2 BRCA1 p.Glu23Lys VAR_020680
3 BRCA1 p.Ser1187Ile VAR_020690
4 BRCA1 p.Gln1200His VAR_020691 rs56214134
5 BRCA1 p.Ser1217Tyr VAR_020695
6 BRCA1 p.Phe1226Leu VAR_020696
7 BRCA1 p.Arg1243Gly VAR_020697

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

6 (show top 50) (show all 2184)
id Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
2 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
3 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
4 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
5 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
6 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
7 BRCA1 BRCA1, 59-BP INS insertion Pathogenic
8 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
9 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
10 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
11 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
12 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
13 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh37 Chromosome 17, 41243800: 41243800
14 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh37 Chromosome 17, 41243789: 41243792
15 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh37 Chromosome 17, 41243480: 41243483
16 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
17 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
18 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh37 Chromosome 17, 41222947: 41222965
19 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh37 Chromosome 17, 41245159: 41245159
20 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh37 Chromosome 17, 41246702: 41246705
21 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh37 Chromosome 17, 41244057: 41244067
22 BRCA1 NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs) deletion Pathogenic rs80357662 GRCh37 Chromosome 17, 41245992: 41245992
23 BRCA1 BRCA1, 6-KB DUP, EX13 insertion Pathogenic
24 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80357382 GRCh37 Chromosome 17, 41258474: 41258474
25 BRCA1 NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg) single nucleotide variant Pathogenic rs41293463 GRCh37 Chromosome 17, 41203088: 41203088
26 BRCA1 NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys) single nucleotide variant Pathogenic rs41293463 GRCh37 Chromosome 17, 41203088: 41203088
27 BRCA1 NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs) deletion Pathogenic rs80357600 GRCh37 Chromosome 17, 41245874: 41245874
28 BRCA1 NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs) deletion Pathogenic rs80357618 GRCh37 Chromosome 17, 41246532: 41246532
29 BRCA1 NM_007294.3(BRCA1): c.1877_1878ins4 insertion Pathogenic rs80357516 GRCh38 Chromosome 17, 43093653: 43093654
30 BRCA1 NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs) deletion Pathogenic rs80357774 GRCh37 Chromosome 17, 41246530: 41246530
31 BRCA1 NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs) deletion Pathogenic rs80357612 GRCh37 Chromosome 17, 41246427: 41246427
32 BRCA1 NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs) deletion Pathogenic rs397507180 GRCh37 Chromosome 17, 41246333: 41246373
33 BRCA1 NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis) deletion Pathogenic rs397507181 GRCh37 Chromosome 17, 41246332: 41246373
34 BRCA1 NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs) deletion Pathogenic rs397507182 GRCh37 Chromosome 17, 41246331: 41246373
35 BRCA1 NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs) deletion Pathogenic rs397507183 GRCh37 Chromosome 17, 41246330: 41246373
36 BRCA1 NM_007294.3(BRCA1): c.134+5G> C single nucleotide variant Likely pathogenic rs80358038 GRCh37 Chromosome 17, 41267738: 41267738
37 BRCA1 NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs) insertion Pathogenic rs80357597 GRCh37 Chromosome 17, 41246207: 41246208
38 BRCA1 NM_007294.3(BRCA1): c.135-1G> T single nucleotide variant Pathogenic rs80358158 GRCh37 Chromosome 17, 41258551: 41258551
39 BRCA1 NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs) deletion Pathogenic rs80357969 GRCh37 Chromosome 17, 41246187: 41246188
40 BRCA1 NM_007294.3(BRCA1): c.1387_1390delAAAAins5 indel Pathogenic rs397508866 GRCh37 Chromosome 17, 41246158: 41246161
41 BRCA1 NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs) indel Pathogenic rs273897659 GRCh37 Chromosome 17, 41246158: 41246159
42 BRCA1 NM_007294.3(BRCA1): c.143delT (p.Met48Serfs) deletion Pathogenic rs80357637 GRCh37 Chromosome 17, 41258542: 41258542
43 BRCA1 NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs) deletion Pathogenic rs80357801 GRCh37 Chromosome 17, 41246101: 41246104
44 BRCA1 NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter) single nucleotide variant Pathogenic rs80357010 GRCh37 Chromosome 17, 41246068: 41246068
45 BRCA1 NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs) deletion Pathogenic rs80357888 GRCh37 Chromosome 17, 41246040: 41246044
46 BRCA1 NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs) deletion Pathogenic rs80357908 GRCh37 Chromosome 17, 41246038: 41246038
47 BRCA1 NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs80356898 GRCh37 Chromosome 17, 41245861: 41245861
48 BRCA1 NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs) duplication Pathogenic rs397507192 GRCh37 Chromosome 17, 41245820: 41245820
49 BRCA1 NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs) deletion Pathogenic rs397507193 GRCh37 Chromosome 17, 41245694: 41245694
50 BRCA1 NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs) duplication Pathogenic rs397507194 GRCh37 Chromosome 17, 41245627: 41245627

Expression for Breast-Ovarian Cancer, Familial, 1

Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial, 1.

Pathways for Breast-Ovarian Cancer, Familial, 1

Pathways related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

(show all 17)
id 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 11.96 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 Breast-Ovarian Cancer, Familial, 1

Cellular components related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

id 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 Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

(show all 15)
id 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 Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

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

Sources for Breast-Ovarian Cancer, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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