MCID: BRS110
MIFTS: 38

Breast-Ovarian Cancer, Familial 1

Categories: Genetic diseases, Cancer 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 53 28
Breast-Ovarian Cancer, Familial, 1 53 71 13
Brovca1 53 71
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 53
Ovarian Cancer Familial 1 71
Breast Cancer Familial 1 71

Characteristics:

OMIM:

53
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:

31
breast-ovarian cancer, familial 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 53 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 breast-ovarian cancer, familial, 1, is related to brca1 hereditary breast and ovarian cancer syndrome and nijmegen breakage syndrome, 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, ovary and prostate, and related phenotypes are Decreased homologous recombination repair frequency 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 37)
# Related Disease Score Top Affiliating Genes
1 brca1 hereditary breast and ovarian cancer syndrome 30.6 BRCA1 BRCA2 NBN
2 nijmegen breakage syndrome 9.9 BRCA1 NBN
3 hereditary site-specific ovarian cancer syndrome 9.8 BRCA1 BRCA2
4 breast reconstruction 9.8 BRCA1 BRCA2
5 tuberculous salpingitis 9.8 BRCA1 BRCA2
6 nosophobia 9.8 BRCA1 BRCA2
7 cancerophobia 9.8 BRCA1 BRCA2
8 uterine corpus serous adenocarcinoma 9.8 BRCA1 BRCA2
9 lynch syndrome i 9.8 BRCA1 BRCA2
10 fallopian tube adenocarcinoma 9.8 BRCA1 BRCA2
11 synchronous bilateral breast carcinoma 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 dysgerminoma of ovary 9.8 BRCA1 BRCA2
18 primary peritoneal carcinoma 9.8 BRCA1 BRCA2
19 bilateral breast cancer 9.8 BRCA1 BRCA2
20 mutagen sensitivity 9.7 BRCA1 BRCA2
21 pre-malignant neoplasm 9.7 BRCA1 BRCA2
22 fallopian tube carcinoma 9.7 BRCA1 BRCA2
23 ataxia-telangiectasia 9.7 BRCA1 NBN
24 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA1 BRCA2
25 ovary epithelial cancer 9.7 BRCA1 BRCA2
26 breast carcinoma in situ 9.7 BRCA1 BRCA2
27 sporadic breast cancer 9.7 BRCA1 BRCA2
28 ductal carcinoma in situ 9.7 BRCA1 BRCA2
29 ovarian cancer 1 9.7 BRCA1 BRCA2
30 female reproductive organ cancer 9.6 BRCA1 BRCA2
31 cowden disease 9.6 BRCA1 BRCA2
32 li-fraumeni syndrome 9.6 BRCA1 BRCA2
33 reproductive organ cancer 9.6 BRCA1 BRCA2
34 lynch syndrome 9.4 BRCA1 BRCA2
35 hereditary breast ovarian cancer syndrome 9.4 BRCA1 BRCA2 NBN
36 fanconi anemia, complementation group a 9.4 BRCA1 BRCA2 NBN
37 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:

53
Neoplasia:
breast cancer
ovarian cancer


Clinical features from OMIM:

604370

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

31
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 31 HP:0003002

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial 1 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 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:

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

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 28 BRCA1

Anatomical Context for Breast-Ovarian Cancer, Familial 1

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

38
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:

71
# 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 2276)
# 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.134+5G> C single nucleotide variant Likely pathogenic rs80358038 GRCh37 Chromosome 17, 41267738: 41267738
39 BRCA1 NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs) insertion Pathogenic rs80357597 GRCh37 Chromosome 17, 41246207: 41246208
40 BRCA1 NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter) single nucleotide variant Pathogenic rs80357035 GRCh38 Chromosome 17, 43092821: 43092821
41 BRCA1 NM_007294.3(BRCA1): c.135-1G> T single nucleotide variant Pathogenic rs80358158 GRCh37 Chromosome 17, 41258551: 41258551
42 BRCA1 NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs) deletion Pathogenic rs80357969 GRCh37 Chromosome 17, 41246187: 41246188
43 BRCA1 NM_007294.3(BRCA1): c.1387_1390delAAAAins5 indel Pathogenic rs397508866 GRCh37 Chromosome 17, 41246158: 41246161
44 BRCA1 NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs) indel Pathogenic rs273897659 GRCh37 Chromosome 17, 41246158: 41246159
45 BRCA1 NM_007294.3(BRCA1): c.143delT (p.Met48Serfs) deletion Pathogenic rs80357637 GRCh37 Chromosome 17, 41258542: 41258542
46 BRCA1 NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs) deletion Pathogenic rs80357801 GRCh37 Chromosome 17, 41246101: 41246104
47 BRCA1 NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter) single nucleotide variant Pathogenic rs80357010 GRCh37 Chromosome 17, 41246068: 41246068
48 BRCA1 NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs) deletion Pathogenic rs80357888 GRCh37 Chromosome 17, 41246040: 41246044
49 BRCA1 NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs) deletion Pathogenic rs80357908 GRCh37 Chromosome 17, 41246038: 41246038
50 BRCA1 NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs) deletion Pathogenic rs80357600 GRCh37 Chromosome 17, 41245874: 41245874

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)
# 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 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 9.67 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:

# 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
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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