MCID: BRS110
MIFTS: 37

Breast-Ovarian Cancer, Familial 1

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

Aliases & Classifications for Breast-Ovarian Cancer, Familial 1

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

Name: Breast-Ovarian Cancer, Familial 1 57 29 6
Breast-Ovarian Cancer, Familial, 1 57 75 13
Brovca1 57 75
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 57
Ovarian Cancer Familial 1 75
Breast Cancer Familial 1 75

Characteristics:

OMIM:

57
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:

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


Classifications:



External Ids:

OMIM 57 604370
SNOMED-CT via HPO 69 263681008 254838004

Summaries for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot : 75 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, prostate and ovary, and related phenotypes are breast carcinoma and Decreased homologous recombination repair frequency

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 39)
# Related Disease Score Top Affiliating Genes
1 brca1 hereditary breast and ovarian cancer syndrome 10.9
2 pancreatic cancer 4 10.1 BRCA1 NBR2
3 nijmegen breakage syndrome 10.0 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 synchronous bilateral breast carcinoma 9.8 BRCA1 BRCA2
11 fallopian tube adenocarcinoma 9.8 BRCA1 BRCA2
12 peritoneum cancer 9.8 BRCA1 BRCA2
13 glycogen-rich clear cell breast carcinoma 9.8 BRCA1 BRCA2
14 premature menopause 9.8 BRCA1 BRCA2
15 clear cell adenofibroma 9.8 BRCA1 BRCA2
16 cystadenofibroma 9.8 BRCA1 BRCA2
17 lynch syndrome i 9.8 BRCA1 BRCA2
18 dysgerminoma of ovary 9.8 BRCA1 BRCA2
19 bilateral breast cancer 9.7 BRCA1 BRCA2
20 primary peritoneal carcinoma 9.7 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 ovarian cancer 1 9.7 BRCA1 BRCA2
26 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA1 BRCA2
27 ovary epithelial cancer 9.7 BRCA1 BRCA2
28 breast carcinoma in situ 9.6 BRCA1 BRCA2
29 female breast cancer 9.6 BRCA1 BRCA2
30 sporadic breast cancer 9.6 BRCA1 BRCA2
31 ductal carcinoma in situ 9.6 BRCA1 BRCA2
32 female reproductive organ cancer 9.5 BRCA1 BRCA2
33 cowden disease 9.5 BRCA1 BRCA2
34 li-fraumeni syndrome 9.4 BRCA1 BRCA2
35 hereditary breast ovarian cancer syndrome 9.2 BRCA1 BRCA2 NBN
36 fanconi anemia, complementation group a 9.2 BRCA1 BRCA2 NBN
37 adamantinoma of long bones 9.1 BRCA1 BRCA2 NBR2
38 lynch syndrome 9.0 BRCA1 BRCA2
39 ovarian cancer 8.6 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:

57
Neoplasia:
breast cancer
ovarian cancer


Clinical features from OMIM:

604370

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

32
# 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 (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 BRCA2 BRCA1
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:

46
# 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 29 BRCA1

Anatomical Context for Breast-Ovarian Cancer, Familial 1

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

41
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:

75
# 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 6340)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
2 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic rs587776650 GRCh38 Chromosome 8, 89971214: 89971218
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.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh38 Chromosome 13, 32337163: 32337166
5 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
6 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
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.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
9 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh37 Chromosome 17, 41258495: 41258495
10 BRCA1 NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly) single nucleotide variant Pathogenic rs80357064 GRCh38 Chromosome 17, 43106478: 43106478
11 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
12 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh38 Chromosome 17, 43106487: 43106487
13 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
14 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh38 Chromosome 17, 43124030: 43124031
15 BRCA1 BRCA1, 59-BP INS insertion Pathogenic
16 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
17 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh38 Chromosome 17, 43094317: 43094356
18 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
19 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh38 Chromosome 17, 43093234: 43093235
20 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867
21 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh38 Chromosome 17, 43092849: 43092850
22 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh38 Chromosome 17, 43092526: 43092526
23 BRCA1 NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs) deletion Pathogenic rs80357601 GRCh37 Chromosome 17, 41244543: 41244543
24 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
25 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh38 Chromosome 17, 43091924: 43091924
26 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh37 Chromosome 17, 41243800: 41243800
27 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh38 Chromosome 17, 43091783: 43091783
28 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh37 Chromosome 17, 41243789: 41243792
29 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh38 Chromosome 17, 43091772: 43091775
30 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh37 Chromosome 17, 41243480: 41243483
31 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh38 Chromosome 17, 43091463: 43091466
32 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
33 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic 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.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh38 Chromosome 17, 43057065: 43057065
36 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh37 Chromosome 17, 41222947: 41222965
37 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh38 Chromosome 17, 43070930: 43070948
38 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh37 Chromosome 17, 41245159: 41245159
39 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh38 Chromosome 17, 43093142: 43093142
40 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh37 Chromosome 17, 41246702: 41246705
41 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh38 Chromosome 17, 43094685: 43094688
42 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh37 Chromosome 17, 41244057: 41244067
43 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh38 Chromosome 17, 43092040: 43092050
44 BRCA1 NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs) deletion Pathogenic rs80357662 GRCh37 Chromosome 17, 41245992: 41245992
45 BRCA1 NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs) deletion Pathogenic rs80357662 GRCh38 Chromosome 17, 43093975: 43093975
46 BRCA1 BRCA1, 6-KB DUP, EX13 insertion Pathogenic
47 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80357382 GRCh37 Chromosome 17, 41258474: 41258474
48 BRCA1 NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly) single nucleotide variant Pathogenic/Likely pathogenic rs80357382 GRCh38 Chromosome 17, 43106457: 43106457
49 BRCA1 NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg) single nucleotide variant Pathogenic rs41293463 GRCh37 Chromosome 17, 41203088: 41203088
50 BRCA1 NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg) single nucleotide variant Pathogenic rs41293463 GRCh38 Chromosome 17, 43051071: 43051071

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.72 BRCA1 BRCA2 NBN
2
Show member pathways
12.43 BRCA1 BRCA2 NBN
3
Show member pathways
12.24 BRCA1 BRCA2 NBN
4 12.02 BRCA1 BRCA2 NBN
5
Show member pathways
11.96 BRCA1 BRCA2 NBN
6 11.71 BRCA1 BRCA2
7
Show member pathways
11.63 BRCA1 BRCA2 NBN
8 11.48 BRCA1 BRCA2
9
Show member pathways
11.43 BRCA1 NBN
10
Show member pathways
11.31 BRCA1 BRCA2 NBN
11 11.08 BRCA1 NBN
12 10.87 BRCA1 NBN
13
Show member pathways
10.72 BRCA1 BRCA2 NBN
14 10.64 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 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.69 BRCA1 BRCA2 NBN
2 cellular response to DNA damage stimulus GO:0006974 9.65 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 9.49 BRCA1 NBN
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 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:

# 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 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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