BROVCA1
MCID: BRS110
MIFTS: 37

Breast-Ovarian Cancer, Familial 1 (BROVCA1)

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

Aliases & Classifications for Breast-Ovarian Cancer, Familial 1

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

Name: Breast-Ovarian Cancer, Familial 1 58 30 6
Breast-Ovarian Cancer, Familial, 1 58 76 13
Brovca1 58 76
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 58
Ovarian Cancer Familial 1 76
Breast Cancer Familial 1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
multifactorial

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


HPO:

33
breast-ovarian cancer, familial 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 58 604370
SNOMED-CT via HPO 70 123843001 254838004 263681008

Summaries for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot : 76 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 breast-ovarian cancer, familial, 1, is related to brca1 hereditary breast and ovarian cancer syndrome and pancreatic cancer 4. An important gene associated with Breast-Ovarian Cancer, Familial 1 is BRCA1 (BRCA1 DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Affiliated tissues include breast, ovary and prostate, and related phenotypes are breast carcinoma and ovarian neoplasm

Description from OMIM: 604370

Related Diseases for Breast-Ovarian Cancer, Familial 1

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 brca1 hereditary breast and ovarian cancer syndrome 11.1
2 pancreatic cancer 4 10.0 BRCA1 NBR2
3 nijmegen breakage syndrome 10.0 BRCA1 NBN
4 hereditary site-specific ovarian cancer syndrome 9.9 BRCA1 BRCA2
5 tuberculous salpingitis 9.9 BRCA1 BRCA2
6 nosophobia 9.9 BRCA1 BRCA2
7 cancerophobia 9.9 BRCA1 BRCA2
8 breast reconstruction 9.9 BRCA1 BRCA2
9 fallopian tube adenocarcinoma 9.9 BRCA1 BRCA2
10 synchronous bilateral breast carcinoma 9.9 BRCA1 BRCA2
11 glycogen-rich clear cell breast carcinoma 9.9 BRCA1 BRCA2
12 premature menopause 9.9 BRCA1 BRCA2
13 peritoneum cancer 9.9 BRCA1 BRCA2
14 fallopian tube disease 9.9 BRCA1 BRCA2
15 bilateral breast cancer 9.9 BRCA1 BRCA2
16 primary peritoneal carcinoma 9.9 BRCA1 BRCA2
17 lynch syndrome 9.9 BRCA1 BRCA2
18 ataxia-telangiectasia 9.9 BRCA1 NBN
19 lynch syndrome i 9.9 BRCA1 BRCA2
20 mutagen sensitivity 9.9 BRCA1 BRCA2
21 fanconi anemia, complementation group q 9.9 BRCA1 BRCA2
22 pre-malignant neoplasm 9.9 BRCA1 BRCA2
23 fallopian tube carcinoma 9.9 BRCA1 BRCA2
24 dysgerminoma of ovary 9.9 BRCA1 BRCA2
25 breast carcinoma in situ 9.9 BRCA1 BRCA2
26 ovarian cancer 1 9.9 BRCA1 BRCA2
27 malignant ovarian surface epithelial-stromal neoplasm 9.8 BRCA1 BRCA2
28 ovary epithelial cancer 9.8 BRCA1 BRCA2
29 female breast cancer 9.8 BRCA1 BRCA2
30 sporadic breast cancer 9.8 BRCA1 BRCA2
31 ductal carcinoma in situ 9.8 BRCA1 BRCA2
32 female reproductive system disease 9.8 BRCA1 BRCA2
33 reproductive system disease 9.8 BRCA1 BRCA2
34 gonadal disease 9.8 BRCA1 BRCA2
35 li-fraumeni syndrome 9.8 BRCA1 BRCA2
36 endocrine gland cancer 9.7 BRCA1 BRCA2
37 pancreas adenocarcinoma 9.7 BRCA1 BRCA2
38 ovarian cancer 9.6 BRCA1 BRCA2 NBN
39 hereditary breast ovarian cancer syndrome 9.6 BRCA1 BRCA2 NBN
40 ovarian disease 9.6 BRCA1 BRCA2
41 fanconi anemia, complementation group a 9.6 BRCA1 BRCA2 NBN
42 adamantinoma of long bones 9.5 BRCA1 BRCA2 NBR2
43 breast disease 9.5 BRCA1 BRCA2

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

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

33
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 33 HP:0003002
2 ovarian neoplasm 33 HP:0100615

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM:

604370

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

27 (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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.33 BRCA1 BRCA2 NBN
7 Decreased viability after ionizing radiation GR00232-A-2 9.32 BRCA1 BRCA2
8 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 BRCA1 BRCA2 NBN
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 BRCA1 BRCA2 NBN
11 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2

MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial 1:

47
# 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

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

Genetic Tests for Breast-Ovarian Cancer, Familial 1

Genetic tests related to Breast-Ovarian Cancer, Familial 1:

# Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 1 30 BRCA1

Anatomical Context for Breast-Ovarian Cancer, Familial 1

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

42
Breast, Ovary, Prostate

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:

76
# 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 9470)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter) single nucleotide variant Pathogenic rs138608489 GRCh37 Chromosome 17, 41228521: 41228521
2 BRCA1 NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter) single nucleotide variant Pathogenic rs138608489 GRCh38 Chromosome 17, 43076504: 43076504
3 BRCA1 NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs) deletion Pathogenic rs730880288 GRCh38 Chromosome 17, 43063893: 43063893
4 BRCA1 NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs) deletion Pathogenic rs730880288 GRCh37 Chromosome 17, 41215910: 41215910
5 BRCA1 NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs) indel Pathogenic rs730880287 GRCh38 Chromosome 17, 43071076: 43071077
6 BRCA1 NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs) indel Pathogenic rs730880287 GRCh37 Chromosome 17, 41223093: 41223094
7 BRCA1 NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs) deletion Pathogenic rs730881441 GRCh38 Chromosome 17, 43045789: 43045796
8 BRCA1 NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs) deletion Pathogenic rs730881441 GRCh37 Chromosome 17, 41197806: 41197813
9 BRCA1 NM_007294.3(BRCA1): c.5412C> T (p.Val1804=) single nucleotide variant Likely benign rs730881456 GRCh38 Chromosome 17, 43047698: 43047698
10 BRCA1 NM_007294.3(BRCA1): c.5412C> T (p.Val1804=) single nucleotide variant Likely benign rs730881456 GRCh37 Chromosome 17, 41199715: 41199715
11 BRCA1 NM_007294.3(BRCA1): c.5304C> T (p.Cys1768=) single nucleotide variant Likely benign rs138493864 GRCh38 Chromosome 17, 43051091: 43051091
12 BRCA1 NM_007294.3(BRCA1): c.5304C> T (p.Cys1768=) single nucleotide variant Likely benign rs138493864 GRCh37 Chromosome 17, 41203108: 41203108
13 BRCA1 NM_007294.3(BRCA1): c.5186T> A (p.Leu1729Gln) single nucleotide variant Uncertain significance rs730881496 GRCh38 Chromosome 17, 43063340: 43063340
14 BRCA1 NM_007294.3(BRCA1): c.5186T> A (p.Leu1729Gln) single nucleotide variant Uncertain significance rs730881496 GRCh37 Chromosome 17, 41215357: 41215357
15 BRCA1 NM_007294.3(BRCA1): c.4987-1G> A single nucleotide variant Pathogenic rs730881495 GRCh38 Chromosome 17, 43067696: 43067696
16 BRCA1 NM_007294.3(BRCA1): c.4987-1G> A single nucleotide variant Pathogenic rs730881495 GRCh37 Chromosome 17, 41219713: 41219713
17 BRCA1 NM_007294.3(BRCA1): c.4419T> A (p.Ser1473=) single nucleotide variant Likely benign rs730881455 GRCh38 Chromosome 17, 43076553: 43076553
18 BRCA1 NM_007294.3(BRCA1): c.4419T> A (p.Ser1473=) single nucleotide variant Likely benign rs730881455 GRCh37 Chromosome 17, 41228570: 41228570
19 BRCA1 NM_007294.3(BRCA1): c.3980A> G (p.Gln1327Arg) single nucleotide variant Uncertain significance rs730881444 GRCh38 Chromosome 17, 43091551: 43091551
20 BRCA1 NM_007294.3(BRCA1): c.3980A> G (p.Gln1327Arg) single nucleotide variant Uncertain significance rs730881444 GRCh37 Chromosome 17, 41243568: 41243568
21 BRCA1 NM_007294.3(BRCA1): c.3900C> T (p.Cys1300=) single nucleotide variant Likely benign rs730881454 GRCh38 Chromosome 17, 43091631: 43091631
22 BRCA1 NM_007294.3(BRCA1): c.3900C> T (p.Cys1300=) single nucleotide variant Likely benign rs730881454 GRCh37 Chromosome 17, 41243648: 41243648
23 BRCA1 NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs) deletion Pathogenic rs730881440 GRCh38 Chromosome 17, 43091763: 43091764
24 BRCA1 NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs) deletion Pathogenic rs730881440 GRCh37 Chromosome 17, 41243780: 41243781
25 BRCA1 NM_007294.3(BRCA1): c.3717T> A (p.Ser1239=) single nucleotide variant Likely benign rs730881453 GRCh38 Chromosome 17, 43091814: 43091814
26 BRCA1 NM_007294.3(BRCA1): c.3717T> A (p.Ser1239=) single nucleotide variant Likely benign rs730881453 GRCh37 Chromosome 17, 41243831: 41243831
27 BRCA1 NM_007294.3(BRCA1): c.3270A> T (p.Gln1090His) single nucleotide variant Uncertain significance rs369925993 GRCh38 Chromosome 17, 43092261: 43092261
28 BRCA1 NM_007294.3(BRCA1): c.3270A> T (p.Gln1090His) single nucleotide variant Uncertain significance rs369925993 GRCh37 Chromosome 17, 41244278: 41244278
29 BRCA1 NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs) deletion Pathogenic rs730881462 GRCh38 Chromosome 17, 43092393: 43092402
30 BRCA1 NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs) deletion Pathogenic rs730881462 GRCh37 Chromosome 17, 41244410: 41244419
31 BRCA1 NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs) deletion Pathogenic rs730881461 GRCh38 Chromosome 17, 43092586: 43092586
32 BRCA1 NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs) deletion Pathogenic rs730881461 GRCh37 Chromosome 17, 41244603: 41244603
33 BRCA1 NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs) deletion Pathogenic rs730881439 GRCh38 Chromosome 17, 43092593: 43092593
34 BRCA1 NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs) deletion Pathogenic rs730881439 GRCh37 Chromosome 17, 41244610: 41244610
35 BRCA1 NM_007294.3(BRCA1): c.2922A> C (p.Leu974Phe) single nucleotide variant Uncertain significance rs730881487 GRCh38 Chromosome 17, 43092609: 43092609
36 BRCA1 NM_007294.3(BRCA1): c.2922A> C (p.Leu974Phe) single nucleotide variant Uncertain significance rs730881487 GRCh37 Chromosome 17, 41244626: 41244626
37 BRCA1 NM_007294.3(BRCA1): c.2860C> T (p.Leu954=) single nucleotide variant Likely benign rs730881452 GRCh38 Chromosome 17, 43092671: 43092671
38 BRCA1 NM_007294.3(BRCA1): c.2860C> T (p.Leu954=) single nucleotide variant Likely benign rs730881452 GRCh37 Chromosome 17, 41244688: 41244688
39 BRCA1 NM_007294.3(BRCA1): c.2634A> G (p.Ala878=) single nucleotide variant Likely benign rs730881451 GRCh38 Chromosome 17, 43092897: 43092897
40 BRCA1 NM_007294.3(BRCA1): c.2634A> G (p.Ala878=) single nucleotide variant Likely benign rs730881451 GRCh37 Chromosome 17, 41244914: 41244914
41 BRCA1 NM_007294.3(BRCA1): c.2312T> C (p.Leu771Ser) single nucleotide variant Uncertain significance rs730881481 GRCh38 Chromosome 17, 43093219: 43093219
42 BRCA1 NM_007294.3(BRCA1): c.2312T> C (p.Leu771Ser) single nucleotide variant Uncertain significance rs730881481 GRCh37 Chromosome 17, 41245236: 41245236
43 BRCA1 NM_007294.3(BRCA1): c.2090T> C (p.Phe697Ser) single nucleotide variant Uncertain significance rs730881476 GRCh38 Chromosome 17, 43093441: 43093441
44 BRCA1 NM_007294.3(BRCA1): c.2090T> C (p.Phe697Ser) single nucleotide variant Uncertain significance rs730881476 GRCh37 Chromosome 17, 41245458: 41245458
45 BRCA1 NM_007294.3(BRCA1): c.1922T> C (p.Ile641Thr) single nucleotide variant Uncertain significance rs730881474 GRCh38 Chromosome 17, 43093609: 43093609
46 BRCA1 NM_007294.3(BRCA1): c.1922T> C (p.Ile641Thr) single nucleotide variant Uncertain significance rs730881474 GRCh37 Chromosome 17, 41245626: 41245626
47 BRCA1 NM_007294.3(BRCA1): c.1866G> A (p.Ala622=) single nucleotide variant Likely benign rs1800064 GRCh38 Chromosome 17, 43093665: 43093665
48 BRCA1 NM_007294.3(BRCA1): c.1866G> A (p.Ala622=) single nucleotide variant Likely benign rs1800064 GRCh37 Chromosome 17, 41245682: 41245682
49 BRCA1 NM_007294.3(BRCA1): c.1860delT (p.His621Metfs) deletion Pathogenic rs730881459 GRCh38 Chromosome 17, 43093671: 43093671
50 BRCA1 NM_007294.3(BRCA1): c.1860delT (p.His621Metfs) deletion Pathogenic rs730881459 GRCh37 Chromosome 17, 41245688: 41245688

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 BRCA1 BRCA2 NBN
2
Show member pathways
12.45 BRCA1 BRCA2 NBN
3
Show member pathways
12.26 BRCA1 BRCA2 NBN
4 12.05 BRCA1 BRCA2 NBN
5
Show member pathways
12.01 BRCA1 BRCA2 NBN
6
Show member pathways
11.73 BRCA1 BRCA2 NBN
7 11.72 BRCA1 BRCA2
8 11.5 BRCA1 BRCA2
9
Show member pathways
11.45 BRCA1 NBN
10
Show member pathways
11.31 BRCA1 BRCA2 NBN
11 11.1 BRCA1 NBN
12 10.93 BRCA1 BRCA2 NBN
13 10.9 BRCA1 NBN
14
Show member pathways
10.72 BRCA1 BRCA2 NBN
15 10.7 BRCA1 NBN

GO Terms for Breast-Ovarian Cancer, Familial 1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.65 BRCA1 BRCA2 NBN
2 cellular response to DNA damage stimulus GO:0006974 9.61 BRCA1 BRCA2 NBN
3 DNA repair GO:0006281 9.54 BRCA1 BRCA2 NBN
4 DNA replication GO:0006260 9.51 BRCA1 NBN
5 DNA recombination GO:0006310 9.49 BRCA1 BRCA2
6 double-strand break repair via nonhomologous end joining GO:0006303 9.46 BRCA1 NBN
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.4 BRCA1 BRCA2
8 DNA double-strand break processing GO:0000729 9.32 BRCA1 NBN
9 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.26 BRCA1 BRCA2
10 chordate embryonic development GO:0043009 9.16 BRCA1 BRCA2
11 double-strand break repair via homologous recombination GO:0000724 9.13 BRCA1 BRCA2 NBN
12 double-strand break repair GO:0006302 8.8 BRCA1 BRCA2 NBN

Molecular functions related to Breast-Ovarian Cancer, Familial 1 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 Breast-Ovarian Cancer, Familial 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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