MCID: BRC084
MIFTS: 46

Brca1 Hereditary Breast and Ovarian Cancer Syndrome malady

Categories: Rare diseases, Genetic diseases, Cancer diseases

Aliases & Classifications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Aliases & Descriptions for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca1 Hereditary Breast and Ovarian Cancer Syndrome 50
Familial Susceptibility to Breast-Ovarian Cancer 1 50 29
Brca1 Hereditary Breast and Ovarian Cancer 24
Malignant Neoplasm of Breast 69
Breast Carcinoma 69
Breast Cancer 24
Brovca1 50

Classifications:



Summaries for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

NIH Rare Diseases : 50 brca1 hereditary breast and ovarian cancer syndrome (brca1 hboc) is an inherited condition that is characterized by an increased risk for a variety of different cancers. women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. brca1 hboc may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. this condition is caused by changes (mutations) in the brca1 gene and is inherited in an autosomal dominant manner. management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries. last updated: 3/10/2015

MalaCards based summary : Brca1 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 1, is related to pneumonia and colorectal cancer, and has symptoms including pelvic pain An important gene associated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Paclitaxel and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and cervix, and related phenotypes are Decreased homologous recombination repair frequency and cellular

Related Diseases for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)
id Related Disease Score Top Affiliating Genes
1 pneumonia 30.0 BRCA1 BRCA2
2 colorectal cancer 29.2 APC ATM BRCA1 BRCA2 CHEK2 PTEN
3 breast cancer 12.7
4 familial breast cancer 12.4
5 bilateral breast cancer 12.2
6 estrogen-receptor positive breast cancer 12.0
7 sporadic breast cancer 12.0
8 estrogen-receptor negative breast cancer 12.0
9 female breast cancer 11.9
10 progesterone-receptor positive breast cancer 11.9
11 triple-receptor negative breast cancer 11.9
12 progesterone-receptor negative breast cancer 11.9
13 inflammatory breast carcinoma 11.9
14 androgen insensitivity, partial, with or without breast cancer 11.8
15 breast cancer, childhood 11.8
16 her2-receptor positive breast cancer 11.8
17 her2-receptor negative breast cancer 11.8
18 bard1-related susceptibility to breast cancer 11.7
19 breast cancer susceptibility, xrcc3-related 11.7
20 brip1-related breast cancer 11.7
21 chek2-related susceptibility to breast cancer 11.7
22 rad51-related susceptibility to breast cancer 11.7
23 gastric cancer risk after h. pylori infection 11.4
24 brca2 hereditary breast and ovarian cancer syndrome 11.4
25 breast metaplastic carcinoma 11.4
26 breast-ovarian cancer, familial, 2 11.4
27 breast-ovarian cancer, familial 4 11.4
28 breast-ovarian cancer, familial, 1 11.4
29 breast-ovarian cancer, familial 3 11.4
30 li-fraumeni syndrome 11.4
31 pancreatic cancer 11.2
32 paraneoplastic cerebellar degeneration 11.2
33 granulomatous lobular mastitis 11.2
34 breast fibroadenoma 11.2
35 adenocarcinoma 11.1
36 paraneoplastic syndromes 11.1
37 breast sarcoma 11.0
38 obesity 10.9
39 comedo carcinoma 10.9
40 luminal breast carcinoma 10.7
41 ocular cancer 10.7
42 precocious puberty, central, 2 10.7
43 fibrosclerosis of breast 10.7
44 precocious puberty, central, 1 10.7
45 hereditary breast ovarian cancer 10.7
46 mondor disease 10.7
47 paraneoplastic neurologic disorders 10.7
48 endotheliitis 10.6
49 renal cell carcinoma 10.6
50 hypoxia 10.5

Graphical network of the top 20 diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Symptoms & Phenotypes for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

UMLS symptoms related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

GenomeRNAi Phenotypes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome 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 10.43 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.43 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 10.43 BRCA2 BRCA1 PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.43 BRCA2 BRCA1 PALB2 ATM
5 Decreased homologous recombination repair frequency GR00236-A-3 10.43 BRCA1 BRCA2 PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 BRCA1 BRCA2 CHEK2 ATM NBN PALB2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 BRCA1 BRCA2 CHEK2 ATM NBN PALB2
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
9 Apoptosis resistance GR00093-A-0 9.58 ATM CHEK2 PTEN
10 Decreased viability after ionizing radiation GR00232-A-2 9.5 ATM BRCA1 BRCA2
11 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA1 BRCA2 BRIP1
12 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 BRIP1

MGI Mouse Phenotypes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 NBN PALB2 PTEN APC ATM BRCA1
2 endocrine/exocrine gland MP:0005379 10.1 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
3 embryo MP:0005380 10.05 APC ATM BRCA1 BRCA2 NBN PALB2
4 homeostasis/metabolism MP:0005376 10.03 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
5 growth/size/body region MP:0005378 10.02 APC ATM BRCA1 BRCA2 NBN PALB2
6 hematopoietic system MP:0005397 10 APC ATM BRCA1 BRCA2 CHEK2 NBN
7 immune system MP:0005387 9.95 APC ATM BRCA1 BRCA2 CHEK2 NBN
8 mortality/aging MP:0010768 9.86 NBN PALB2 PTEN APC ATM BRCA1
9 integument MP:0010771 9.85 BRCA2 PALB2 PTEN APC ATM BRCA1
10 neoplasm MP:0002006 9.81 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
11 limbs/digits/tail MP:0005371 9.72 APC BRCA1 BRCA2 PALB2 PTEN
12 nervous system MP:0003631 9.61 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
13 reproductive system MP:0005389 9.17 APC ATM BRCA1 BRCA2 BRIP1 NBN

Drugs & Therapeutics for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Drugs for Brca1 Hereditary Breast and Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
2
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
3
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
4
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
5
Doxil Approved June 1999 Phase 2 31703
6 Albumin-Bound Paclitaxel Phase 2,Phase 1
7 Antimitotic Agents Phase 2,Phase 1
8 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
9 Alkylating Agents Phase 2
10 Topoisomerase Inhibitors Phase 2
11 Anti-Bacterial Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Antirheumatic Agents Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16
Veliparib Investigational Phase 1 912444-00-9 11960529
17 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
18
Olaparib Approved 763113-22-0 23725625
19
Pancrelipase Approved 53608-75-6
20 pancreatin

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 Methods in Education for Breast Cancer Genetics Active, not recruiting NCT00001806 Phase 3
2 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Not yet recruiting NCT03162276 Phase 3
3 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
4 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
5 Neoadjuvant Carboplatin in Triple Negative Breast Cancer Recruiting NCT02978495 Phase 2
6 A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate Cancer Recruiting NCT02203513 Phase 2
7 Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer Completed NCT00535119 Phase 1
8 Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy Active, not recruiting NCT00892736 Phase 1
9 Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
10 Risk Education and Assessment for Cancer Heredity Completed NCT01346761
11 Lessons Learned From the Family Gene Toolkit Completed NCT02154633
12 Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast Cancer Completed NCT00001496
13 Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers Recruiting NCT02516540
14 Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry Recruiting NCT02302742
15 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer Recruiting NCT03075540
16 Pancreatic Cancer Genetics Recruiting NCT01102569
17 C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer Population Recruiting NCT02503436
18 Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers Active, not recruiting NCT02087592
19 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222
20 Genetic Counseling for Breast Cancer Survivors (GC for BC) Active, not recruiting NCT02451735
21 Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian Cancer Active, not recruiting NCT01230346
22 Identification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer Enrolling by invitation NCT02786147
23 Women at Risk of Breast Cancer and OLFM4 Not yet recruiting NCT02653105
24 Inherited Susceptible Genes Among Epithelial Ovarian Cancer Not yet recruiting NCT03015376
25 Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans Terminated NCT01374685

Search NIH Clinical Center for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Genetic Tests for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Genetic tests related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 1 29
2 Brca1 Hereditary Breast and Ovarian Cancer 24 BRCA1

Anatomical Context for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards organs/tissues related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

39
Breast, Prostate, Cervix, Pancreas, Uterus

Publications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

ClinVar genetic disease variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

6 (show top 50) (show all 2316)
id Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
2 PALB2 NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter) single nucleotide variant Pathogenic,risk factor rs118203999 GRCh37 Chromosome 16, 23634324: 23634324
3 CYP17A1 NM_000102.3(CYP17A1): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic,risk factor rs104894136 GRCh37 Chromosome 10, 104593831: 104593831
4 ATM NM_000051.3(ATM): c.7271T> G (p.Val2424Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs28904921 GRCh37 Chromosome 11, 108199929: 108199929
5 CHEK2 CHEK2, 1-BP DEL, 1100C deletion Pathogenic,risk factor
6 CHEK2 NM_007194.3(CHEK2): c.1283C> T (p.Ser428Phe) single nucleotide variant risk factor rs137853011 GRCh37 Chromosome 22, 29091207: 29091207
7 NBN NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs) deletion Pathogenic,risk factor rs587776650 GRCh37 Chromosome 8, 90983442: 90983446
8 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
9 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
10 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
11 BRCA2 NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
12 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
13 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
14 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
15 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
16 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
17 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
18 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
19 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
20 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic/Likely pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
21 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Pathogenic/Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
22 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
23 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
24 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
25 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
26 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
27 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
28 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
29 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
30 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
31 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
32 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
33 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
34 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
35 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
36 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
37 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
38 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
39 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
40 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
41 ERBB2 NM_001005862.2(ERBB2): c.2173_2174delTTinsCC (p.Leu725Pro) indel Pathogenic/Likely pathogenic rs121913469 GRCh37 Chromosome 17, 37880219: 37880220
42 AKT1 NM_005163.2(AKT1): c.49G> A (p.Glu17Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434592 GRCh37 Chromosome 14, 105246551: 105246551
43 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
44 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
45 BRCA1 NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly) single nucleotide variant Pathogenic rs28897672 GRCh37 Chromosome 17, 41258504: 41258504
46 BRCA1 NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs) deletion Pathogenic rs80357783 GRCh37 Chromosome 17, 41276047: 41276048
47 BRCA1 BRCA1, 59-BP INS insertion Pathogenic
48 BRCA1 NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs) deletion Pathogenic rs80359874 GRCh37 Chromosome 17, 41246334: 41246373
49 BRCA1 NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs) deletion Pathogenic rs80357780 GRCh37 Chromosome 17, 41245251: 41245252
50 BRCA1 NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs) deletion Pathogenic rs80357971 GRCh37 Chromosome 17, 41244866: 41244867

Expression for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Brca1 Hereditary Breast and Ovarian Cancer Syndrome.

Pathways for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Pathways related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 38)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ATM BRCA1 BRIP1 CHEK2 NBN PTEN
2
Show member pathways
13.25 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
3
Show member pathways
13 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
4
Show member pathways
12.86 APC ATM BRCA1 BRCA2 PTEN
5
Show member pathways
12.83 ATM BRCA1 BRIP1 CHEK2 NBN PTEN
6
Show member pathways
12.76 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
7
Show member pathways
12.55 ATM BRCA1 BRCA2 CHEK2 NBN
8
Show member pathways
12.53 ATM BRCA1 BRIP1 CHEK2 NBN
9 12.39 APC ATM BRCA1 PTEN
10
Show member pathways
12.36 ATM BRCA1 BRCA2 NBN
11 12.25 APC ATM CHEK2
12
Show member pathways
12.25 ATM BRCA1 CHEK2 NBN
13
Show member pathways
12.24 ATM BRCA1 CHEK2 NBN PTEN
14 12.2 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
15 12.19 APC ATM CHEK2
16
Show member pathways
12.15 ATM BRCA1 CHEK2 PTEN
17 11.93 ATM CHEK2 PTEN
18 11.91 ATM BRCA1 BRCA2 CHEK2 PTEN
19 11.86 APC ATM PTEN
20 11.8 BRCA1 BRCA2 BRIP1 PALB2
21
Show member pathways
11.74 ATM BRCA1 CHEK2 NBN
22
Show member pathways
11.73 ATM BRCA1 BRCA2 BRIP1 NBN PALB2
23 11.55 ATM BRCA1 CHEK2 PTEN
24
Show member pathways
11.47 ATM BRCA1 BRCA2 CHEK2 NBN
25 11.42 ATM CHEK2 NBN
26 11.37 ATM BRCA1 CHEK2 PTEN
27
Show member pathways
11.33 ATM CHEK2
28 11.31 ATM BRCA1 CHEK2 NBN
29
Show member pathways
11.28 ATM BRCA1 BRCA2 BRIP1 NBN PALB2
30 11.23 BRCA2 CHEK2
31 11.23 APC PTEN
32 11.21 ATM BRCA1 NBN
33 11.16 ATM BRCA1
34 11.03 BRCA1 NBN
35 11.01 ATM CHEK2
36 10.98 ATM PTEN
37 10.92 ATM BRCA1
38
Show member pathways
10.84 ATM NBN

GO Terms for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

Cellular components related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
2 nuclear chromosome, telomeric region GO:0000784 9.54 ATM BRCA2 NBN
3 PML body GO:0016605 9.33 CHEK2 NBN PTEN
4 lateral element GO:0000800 9.32 BRCA1 BRCA2
5 nucleoplasm GO:0005654 9.28 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
6 chromosome, telomeric region GO:0000781 9.13 ATM CHEK2 NBN

Biological processes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.96 ATM BRCA1 BRCA2 CHEK2 NBN
2 apoptotic process GO:0006915 9.94 ATM BRCA1 CHEK2 PTEN
3 protein deubiquitination GO:0016579 9.82 APC BRCA1 PTEN
4 regulation of apoptotic process GO:0042981 9.81 ATM BRCA1 CHEK2
5 DNA replication GO:0006260 9.81 ATM BRCA1 BRIP1 NBN
6 regulation of signal transduction by p53 class mediator GO:1901796 9.8 ATM BRCA1 BRIP1 CHEK2 NBN
7 DNA repair GO:0006281 9.8 ATM BRCA1 BRCA2 BRIP1 CHEK2 NBN
8 cell cycle arrest GO:0007050 9.78 APC ATM NBN
9 double-strand break repair via homologous recombination GO:0000724 9.77 ATM BRCA1 BRCA2 NBN PALB2
10 cellular response to DNA damage stimulus GO:0006974 9.76 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
11 DNA recombination GO:0006310 9.75 BRCA1 BRCA2 PALB2
12 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.73 ATM BRCA1 BRCA2 CHEK2
13 double-strand break repair via nonhomologous end joining GO:0006303 9.72 ATM BRCA1 NBN
14 double-strand break repair GO:0006302 9.72 BRCA1 BRCA2 BRIP1 CHEK2 NBN
15 DNA damage checkpoint GO:0000077 9.67 BRIP1 CHEK2 NBN
16 DNA duplex unwinding GO:0032508 9.65 BRIP1 NBN
17 somitogenesis GO:0001756 9.65 ATM PALB2
18 DNA double-strand break processing GO:0000729 9.65 ATM BRCA1 NBN
19 response to gamma radiation GO:0010332 9.63 BRCA2 CHEK2
20 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.63 BRCA1 BRCA2 CHEK2
21 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.62 BRCA2 CHEK2
22 cellular response to gamma radiation GO:0071480 9.62 ATM CHEK2
23 female gonad development GO:0008585 9.61 ATM BRCA2
24 mitotic spindle assembly checkpoint GO:0007094 9.6 APC ATM
25 inner cell mass cell proliferation GO:0001833 9.59 BRCA2 PALB2
26 replicative senescence GO:0090399 9.58 ATM CHEK2
27 DNA damage induced protein phosphorylation GO:0006975 9.57 ATM CHEK2
28 negative regulation of telomere capping GO:1904354 9.54 ATM NBN
29 chordate embryonic development GO:0043009 9.52 BRCA1 BRCA2
30 DNA synthesis involved in DNA repair GO:0000731 9.43 ATM BRCA1 BRCA2 BRIP1 NBN PALB2
31 strand displacement GO:0000732 9.1 ATM BRCA1 BRCA2 BRIP1 NBN PALB2

Molecular functions related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.13 APC BRCA1 CHEK2
2 ATP-dependent DNA helicase activity GO:0004003 8.62 BRIP1 NBN

Sources for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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