HBOC
MCID: BRC085
MIFTS: 45

Brca2 Hereditary Breast and Ovarian Cancer Syndrome (HBOC) malady

Categories: Rare diseases, Genetic diseases, Cancer diseases

Aliases & Classifications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Aliases & Descriptions for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca2 Hereditary Breast and Ovarian Cancer Syndrome 50
Familial Susceptibility to Breast-Ovarian Cancer 2 50 29
Brca2 Hereditary Breast and Ovarian Cancer 24
Malignant Neoplasm of Breast 69
Breast Carcinoma 69
Breast Cancer 24
Brovca2 50
Hboc 50

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

NIH Rare Diseases : 50 brca2 hereditary breast and ovarian cancer syndrome (brca2 hboc) is an inherited condition that is characterized by an increased risk for a variety of different cancers. women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. both men and women with brca2 hboc have an elevated risk for pancreatic cancer. brca2 hboc may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. this condition is caused by changes (mutations) in the brca2 gene and is inherited in an autosomal dominant manner. management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries. last updated: 3/10/2015

MalaCards based summary : Brca2 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 2, is related to estrogen-receptor positive breast cancer and breast cancer, and has symptoms including pelvic pain An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Olaparib and Poly(ADP-ribose) Polymerase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and prostate, and related phenotypes are Decreased homologous recombination repair frequency and cellular

Related Diseases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
id Related Disease Score Top Affiliating Genes
1 estrogen-receptor positive breast cancer 32.9 BRCA1 BRCA2
2 breast cancer 12.7
3 familial breast cancer 12.4
4 brca1 and brca2 hereditary breast and ovarian cancer 12.4
5 bilateral breast cancer 12.2
6 sporadic breast cancer 12.0
7 estrogen-receptor negative breast cancer 12.0
8 female breast cancer 11.9
9 progesterone-receptor positive breast cancer 11.9
10 triple-receptor negative breast cancer 11.9
11 progesterone-receptor negative breast cancer 11.9
12 inflammatory breast carcinoma 11.9
13 androgen insensitivity, partial, with or without breast cancer 11.8
14 her2-receptor positive breast cancer 11.8
15 her2-receptor negative breast cancer 11.8
16 breast cancer, childhood 11.8
17 bard1-related susceptibility to breast cancer 11.7
18 breast cancer susceptibility, xrcc3-related 11.7
19 brip1-related breast cancer 11.7
20 chek2-related susceptibility to breast cancer 11.7
21 rad51-related susceptibility to breast cancer 11.7
22 gastric cancer risk after h. pylori infection 11.4
23 breast metaplastic carcinoma 11.4
24 brca1 hereditary breast and ovarian cancer syndrome 11.4
25 breast-ovarian cancer, familial, 2 11.4
26 breast-ovarian cancer, familial 4 11.4
27 breast-ovarian cancer, familial, 1 11.4
28 breast-ovarian cancer, familial 3 11.4
29 li-fraumeni syndrome 11.4
30 ovarian cancer 11.2
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 paraneoplastic neurologic disorders 10.7
43 hereditary breast ovarian cancer 10.7
44 precocious puberty, central, 2 10.7
45 fibrosclerosis of breast 10.7
46 precocious puberty, central, 1 10.7
47 mondor disease 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 Brca2 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Symptoms & Phenotypes for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

UMLS symptoms related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

GenomeRNAi Phenotypes related to Brca2 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 10.46 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 10.46 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 10.46 BRCA1 BRCA2 PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 10.46 BRCA1 BRCA2 PALB2 ATM
5 Decreased homologous recombination repair frequency GR00236-A-3 10.46 BRCA1 BRCA2 PALB2
6 Decreased viability GR00221-A-2 10.02 BRCA1 CHEK2
7 Decreased viability GR00221-A-3 10.02 ATM BRCA1 CHEK2
8 Decreased viability GR00221-A-4 10.02 ATM CHEK2
9 Decreased viability GR00301-A 10.02 BRCA1
10 Decreased viability GR00342-S-2 10.02 CHEK2
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 CHEK2 PALB2 PTEN ATM BRCA1 BRCA2
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 BRIP1 CHEK2 PALB2 PTEN ATM BRCA1
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.63 ATM BRCA1 BRCA2 BRIP1 CHEK2 PALB2
14 Apoptosis resistance GR00093-A-0 9.61 ATM CHEK2 PTEN
15 Decreased viability after ionizing radiation GR00232-A-2 9.5 ATM BRCA1 BRCA2
16 Decreased viability with cisplatin GR00101-A-4 9.43 BRCA2 BRIP1 BRCA1
17 Synthetic lethal with cisplatin GR00101-A-1 9.13 BRCA1 BRCA2 BRIP1

MGI Mouse Phenotypes related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
2 endocrine/exocrine gland MP:0005379 10.02 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
3 homeostasis/metabolism MP:0005376 9.98 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
4 embryo MP:0005380 9.97 PALB2 PTEN APC ATM BRCA1 BRCA2
5 hematopoietic system MP:0005397 9.93 APC ATM BRCA1 BRCA2 CHEK2 PTEN
6 immune system MP:0005387 9.88 BRCA1 BRCA2 CHEK2 PTEN APC ATM
7 integument MP:0010771 9.85 APC ATM BRCA1 BRCA2 PALB2 PTEN
8 adipose tissue MP:0005375 9.83 APC ATM BRCA1 PTEN
9 mortality/aging MP:0010768 9.8 APC ATM BRCA1 BRCA2 CHEK2 PALB2
10 neoplasm MP:0002006 9.76 PALB2 PTEN APC ATM BRCA1 BRCA2
11 limbs/digits/tail MP:0005371 9.72 APC BRCA1 BRCA2 PALB2 PTEN
12 nervous system MP:0003631 9.56 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
13 reproductive system MP:0005389 9.1 APC ATM BRCA1 BRCA2 BRIP1 PTEN

Drugs & Therapeutics for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Drugs for Brca2 Hereditary Breast and Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
2 Poly(ADP-ribose) Polymerase Inhibitors Phase 1, Phase 2
3
tremelimumab Phase 1, Phase 2
4 Immunoglobulins Phase 1, Phase 2
5 Antibodies, Monoclonal Phase 1, Phase 2
6 Antibodies Phase 1, Phase 2
7
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
8
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
9
Veliparib Investigational Phase 1 912444-00-9 11960529
10 Albumin-Bound Paclitaxel Phase 1
11 Antimitotic Agents Phase 1
12 Antineoplastic Agents, Phytogenic Phase 1
13
Pancrelipase Approved 53608-75-6
14 pancreatin

Interventional clinical trials:

(show all 17)
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 Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer Completed NCT01333748 Phase 2
4 Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers Completed NCT01367639 Phase 2
5 PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian Cancer Recruiting NCT02571725 Phase 1, Phase 2
6 Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer Completed NCT00535119 Phase 1
7 Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy Active, not recruiting NCT00892736 Phase 1
8 Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
9 Risk Education and Assessment for Cancer Heredity Completed NCT01346761
10 Lessons Learned From the Family Gene Toolkit Completed NCT02154633
11 Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry Recruiting NCT02302742
12 Pancreatic Cancer Genetics Recruiting NCT01102569
13 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
14 Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian Cancer Active, not recruiting NCT00040222
15 Genetic Counseling for Breast Cancer Survivors (GC for BC) Active, not recruiting NCT02451735
16 Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian Cancer Active, not recruiting NCT01230346
17 Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans Terminated NCT01374685

Search NIH Clinical Center for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Genetic Tests for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Genetic tests related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 2 29
2 Brca2 Hereditary Breast and Ovarian Cancer 24 BRCA2

Anatomical Context for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards organs/tissues related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

39
Breast, Skin, Prostate

Publications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

ClinVar genetic disease variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

6 (show top 50) (show all 2534)
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 PTEN NM_000314.6(PTEN): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic rs121909219 GRCh37 Chromosome 10, 89717672: 89717672
8 PTEN NM_000314.6(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
9 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic/Likely pathogenic rs80338963 GRCh37 Chromosome 18, 48591918: 48591918
10 BRCA2 BRCA2, 4-BP DEL, NT3034 deletion Pathogenic
11 BRCA2 BRCA2, 6-BP DEL, PHE-TER deletion Pathogenic
12 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
13 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
14 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
15 BRCA2 BRCA2, 1-BP DEL deletion Pathogenic
16 BRCA2 NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
17 BRCA2 BRCA2, 1-BP DEL, 8525C deletion Pathogenic
18 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
19 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
20 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
21 BRCA2 BRCA2, IVS23AS, A-G, -2 single nucleotide variant Pathogenic
22 BRCA2 NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg) single nucleotide variant Pathogenic rs80359062 GRCh37 Chromosome 13, 32937504: 32937504
23 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
24 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh37 Chromosome 13, 32937558: 32937558
25 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
26 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
27 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
28 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
29 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
30 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
31 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
32 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
33 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
34 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
35 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic/Likely pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
36 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Pathogenic/Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
37 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
38 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
39 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
40 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
41 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
42 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
43 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
44 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
45 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
46 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
47 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
48 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
49 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
50 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085

Expression for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Brca2 Hereditary Breast and Ovarian Cancer Syndrome.

Pathways for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Pathways related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 37)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 ATM BRCA1 BRCA2 BRIP1 CHEK2
2
Show member pathways
12.94 ATM BRCA1 BRCA2 BRIP1 CHEK2 PALB2
3
Show member pathways
12.8 APC ATM BRCA1 BRCA2 PTEN
4
Show member pathways
12.76 ATM BRCA1 BRIP1 CHEK2 PTEN
5
Show member pathways
12.7 ATM BRCA1 BRCA2 BRIP1 CHEK2
6
Show member pathways
12.48 ATM BRCA1 BRCA2 CHEK2
7
Show member pathways
12.46 ATM BRCA1 BRIP1 CHEK2
8 12.33 APC ATM BRCA1 PTEN
9
Show member pathways
12.3 ATM BRCA1 BRCA2
10 12.27 ATM BRCA1 BRCA2 BRIP1 CHEK2
11 12.24 APC ATM CHEK2
12 12.17 APC ATM CHEK2
13
Show member pathways
12.17 ATM BRCA1 CHEK2
14
Show member pathways
12.17 ATM BRCA1 CHEK2 PTEN
15
Show member pathways
12.05 ATM BRCA1 CHEK2 PTEN
16
Show member pathways
11.95 ATM BRCA1 BRCA2 BRIP1 PALB2
17 11.9 ATM CHEK2 PTEN
18 11.83 APC ATM PTEN
19 11.71 BRCA1 BRCA2 BRIP1 PALB2
20
Show member pathways
11.68 ATM BRCA1 CHEK2
21
Show member pathways
11.59 ATM BRCA1 BRCA2 CHEK2
22 11.54 ATM BRCA1 BRCA2 CHEK2 PTEN
23 11.44 ATM CHEK2
24 11.44 ATM BRCA1 CHEK2 PTEN
25 11.4 APC PTEN
26 11.33 ATM CHEK2
27
Show member pathways
11.31 ATM CHEK2
28 11.31 ATM BRCA1 CHEK2
29 11.22 BRCA2 CHEK2
30 11.21 APC PTEN
31
Show member pathways
11.2 ATM BRCA1 BRCA2 BRIP1 PALB2
32 11.15 ATM BRCA1
33 11.12 ATM BRCA1 CHEK2 PTEN
34 11.09 ATM BRCA1
35 10.98 ATM CHEK2
36 10.95 ATM PTEN
37 10.88 ATM BRCA1

GO Terms for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Cellular components related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
2 chromosome, telomeric region GO:0000781 9.26 ATM CHEK2
3 nucleoplasm GO:0005654 9.23 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
4 lateral element GO:0000800 8.96 BRCA1 BRCA2

Biological processes related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 ATM BRCA1 CHEK2 PTEN
2 cell cycle GO:0007049 9.89 ATM BRCA1 BRCA2 CHEK2
3 positive regulation of apoptotic process GO:0043065 9.82 APC ATM PTEN
4 protein deubiquitination GO:0016579 9.8 APC BRCA1 PTEN
5 regulation of apoptotic process GO:0042981 9.79 ATM BRCA1 CHEK2
6 regulation of signal transduction by p53 class mediator GO:1901796 9.76 ATM BRCA1 BRIP1 CHEK2
7 DNA replication GO:0006260 9.74 ATM BRCA1 BRIP1
8 DNA repair GO:0006281 9.73 ATM BRCA1 BRCA2 BRIP1 CHEK2 PALB2
9 double-strand break repair via homologous recombination GO:0000724 9.71 ATM BRCA1 BRCA2 PALB2
10 cellular response to DNA damage stimulus GO:0006974 9.7 APC ATM BRCA1 BRCA2 BRIP1 CHEK2
11 DNA recombination GO:0006310 9.69 BRCA1 BRCA2 PALB2
12 double-strand break repair GO:0006302 9.67 BRCA1 BRCA2 BRIP1 CHEK2
13 response to ionizing radiation GO:0010212 9.64 ATM BRCA1
14 somitogenesis GO:0001756 9.63 ATM PALB2
15 response to gamma radiation GO:0010332 9.62 BRCA2 CHEK2
16 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.62 ATM BRCA1 BRCA2 CHEK2
17 DNA damage checkpoint GO:0000077 9.61 BRIP1 CHEK2
18 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.61 BRCA1 BRCA2 CHEK2
19 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.6 BRCA2 CHEK2
20 cellular response to gamma radiation GO:0071480 9.58 ATM CHEK2
21 female gonad development GO:0008585 9.58 ATM BRCA2
22 mitotic spindle assembly checkpoint GO:0007094 9.56 APC ATM
23 DNA double-strand break processing GO:0000729 9.55 ATM BRCA1
24 inner cell mass cell proliferation GO:0001833 9.54 BRCA2 PALB2
25 replicative senescence GO:0090399 9.52 ATM CHEK2
26 DNA damage induced protein phosphorylation GO:0006975 9.49 ATM CHEK2
27 chordate embryonic development GO:0043009 9.48 BRCA1 BRCA2
28 DNA synthesis involved in DNA repair GO:0000731 9.35 ATM BRCA1 BRCA2 BRIP1 PALB2
29 strand displacement GO:0000732 9.02 ATM BRCA1 BRCA2 BRIP1 PALB2

Molecular functions related to Brca2 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 8.8 APC BRCA1 CHEK2

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
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60 QIAGEN
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68 Tocris
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70 UMLS via Orphanet
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