BROVCA1
MCID: BRS110
MIFTS: 43

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 9.6 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, Bone, Pancreas, Testes

Publications for Breast-Ovarian Cancer, Familial 1

Articles related to Breast-Ovarian Cancer, Familial 1:

(show top 50) (show all 69)
# Title Authors Year
1
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. ( 29133208 )
2018
2
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. ( 29712865 )
2018
3
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
4
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. ( 25472942 )
2015
5
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
6
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. ( 25394175 )
2015
7
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. ( 24366402 )
2014
8
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
9
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. ( 24366376 )
2014
10
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. ( 23269703 )
2013
11
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
12
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. ( 23918944 )
2013
13
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. ( 23188549 )
2013
14
A guide for functional analysis of BRCA1 variants of uncertain significance. ( 22753008 )
2012
15
Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155. ( 21946536 )
2011
16
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
17
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. ( 19305347 )
2009
18
Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. ( 18762988 )
2008
19
Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes. ( 18940477 )
2008
20
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. ( 18285836 )
2008
21
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. ( 17103455 )
2007
22
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. ( 17392385 )
2007
23
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. ( 17508274 )
2007
24
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. ( 16033915 )
2006
25
ATM activation by ionizing radiation requires BRCA1-associated BAAT1. ( 16452482 )
2006
26
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. ( 16941470 )
2006
27
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
28
657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. ( 12833396 )
2003
29
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. ( 12427738 )
2003
30
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. ( 12955716 )
2003
31
657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. ( 12123493 )
2002
32
Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers. ( 12505263 )
2002
33
Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula. ( 12014998 )
2002
34
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. ( 12220453 )
2002
35
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. ( 11279524 )
2001
36
The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. ( 11781691 )
2001
37
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. ( 11385711 )
2001
38
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. ( 11157798 )
2001
39
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome. ( 10852373 )
2000
40
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. ( 10788334 )
2000
41
The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group. ( 10827109 )
2000
42
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. ( 11039575 )
2000
43
Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. ( 10398434 )
1999
44
Germline BRCA1 alterations in a population-based series of ovarian cancer cases. ( 10196379 )
1999
45
De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. ( 10417300 )
1999
46
Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer. ( 10441573 )
1999
47
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. ( 9927062 )
1999
48
Evidence for a BRCA1 founder mutation in families of West African ancestry. ( 10417303 )
1999
49
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. ( 9590180 )
1998
50
Positional cloning of the gene for Nijmegen breakage syndrome. ( 9620777 )
1998

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 9498)
# 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 rs80357914 GRCh37 Chromosome 17, 41276047: 41276048
14 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357914 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.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh37 Chromosome 17, 41244429: 41244429
25 BRCA1 NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn) single nucleotide variant Benign rs4986852 GRCh38 Chromosome 17, 43092412: 43092412
26 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh37 Chromosome 17, 41243941: 41243941
27 BRCA1 NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter) single nucleotide variant Pathogenic rs62625308 GRCh38 Chromosome 17, 43091924: 43091924
28 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh37 Chromosome 17, 41243800: 41243800
29 BRCA1 NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter) single nucleotide variant Pathogenic rs28897686 GRCh38 Chromosome 17, 43091783: 43091783
30 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh37 Chromosome 17, 41243789: 41243792
31 BRCA1 NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs) deletion Pathogenic rs80357868 GRCh38 Chromosome 17, 43091772: 43091775
32 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh37 Chromosome 17, 41243480: 41243483
33 BRCA1 NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs) deletion Pathogenic rs80357508 GRCh38 Chromosome 17, 43091463: 43091466
34 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
35 BRCA1 NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter) single nucleotide variant Pathogenic rs41293455 GRCh38 Chromosome 17, 43082434: 43082434
36 BRCA1 NM_007294.3(BRCA1): c.4327C> G (p.Arg1443Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs41293455 GRCh37 Chromosome 17, 41234451: 41234451
37 BRCA1 NM_007294.3(BRCA1): c.4327C> G (p.Arg1443Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs41293455 GRCh38 Chromosome 17, 43082434: 43082434
38 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh37 Chromosome 17, 41209082: 41209082
39 BRCA1 NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs) duplication Pathogenic rs80357906 GRCh38 Chromosome 17, 43057065: 43057065
40 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh37 Chromosome 17, 41222947: 41222965
41 BRCA1 NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs) deletion Pathogenic rs80359884 GRCh38 Chromosome 17, 43070930: 43070948
42 BRCA1 NM_007294.3(BRCA1): c.2521C> T (p.Arg841Trp) single nucleotide variant Benign rs1800709 GRCh37 Chromosome 17, 41245027: 41245027
43 BRCA1 NM_007294.3(BRCA1): c.2521C> T (p.Arg841Trp) single nucleotide variant Benign rs1800709 GRCh38 Chromosome 17, 43093010: 43093010
44 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh37 Chromosome 17, 41245159: 41245159
45 BRCA1 NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter) single nucleotide variant Pathogenic rs62625306 GRCh38 Chromosome 17, 43093142: 43093142
46 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh37 Chromosome 17, 41246702: 41246705
47 BRCA1 NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs) deletion Pathogenic rs80357919 GRCh38 Chromosome 17, 43094685: 43094688
48 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh37 Chromosome 17, 41244057: 41244067
49 BRCA1 NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs) deletion Pathogenic rs80357877 GRCh38 Chromosome 17, 43092040: 43092050
50 BRCA1 NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs) deletion Pathogenic rs80357662 GRCh37 Chromosome 17, 41245992: 41245992

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
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9 Cosmic
10 dbSNP
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70 SNOMED-CT via HPO
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