HBOC
MCID: BRC085
MIFTS: 24

Brca2 Hereditary Breast and Ovarian Cancer Syndrome (HBOC)

Categories: Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

MalaCards integrated aliases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca2 Hereditary Breast and Ovarian Cancer Syndrome 53
Familial Susceptibility to Breast-Ovarian Cancer 2 53
Brovca2 53
Hboc 53

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Brca2 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 2, is related to hereditary breast ovarian cancer syndrome and ovarian cancer. The drugs Coal tar and Glutaral have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and prostate.

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 all 24)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 12.2
2 ovarian cancer 11.6
3 pancreatic cancer 11.6
4 breast-ovarian cancer, familial 2 11.5
5 brca1 hereditary breast and ovarian cancer syndrome 11.4
6 haemophilus influenzae 10.6
7 diphtheria 10.4
8 pertussis 10.3
9 tetanus 10.3
10 lynch syndrome 10.3
11 li-fraumeni syndrome 10.2
12 sudden infant death syndrome 10.2
13 li-fraumeni syndrome 2 10.2
14 fanconi anemia, complementation group a 10.1
15 immune deficiency disease 10.1
16 endometrial hyperplasia 10.1
17 acute pancreatitis 10.1
18 ischemia 10.1
19 lactic acidosis 10.1
20 pancreatitis 10.1
21 cowden syndrome 10.1
22 bilateral breast cancer 10.1
23 epiglottitis 10.1
24 ovarian epithelial cancer 10.1

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

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 2 8007-45-2
2
Glutaral Experimental Phase 2 111-30-8 3485
3 Pharmaceutical Solutions Phase 2
4 HBOC 201 Phase 2
5 Blood Substitutes Phase 2
6 Hydroxyethyl Starch Derivatives Phase 2
7 Plasma Substitutes Phase 2
8
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Enhancement of Tissue Preservation During Cardiopulmonary Bypass With HBOC-201 (Registry Study) Unknown status NCT00301535 Phase 2 HBOC-201 (hemoglobin glutamer-250 bovine)
2 A Single-Center, Study to Evaluate the Safety and Tolerability of Hemoglobin-Based Oxygen Carrier-201 (HBOC 201) in Trauma Subjects. (Phase II - Safety and Tolerability) Unknown status NCT00301483 Phase 2 Hemoglobin-based oxygen carrier-201 (HBOC 201)
3 Phase II, Open-Label Study in the Catheterization Laboratory Setting to Challenge the Concept That HBOC-201 Administration Might Improve Myocardial 'Oxygenation' and Myocardial Function at the Moment of (Brief) Coronary Occlusion Completed NCT00479895 Phase 2 Hemoglobin Based Oxygen Carrier-201 (HBOC-201, Hemopure)
4 A Multi-Center,Randomized,Double-Blind,Placebo-Controlled,Dose Finding Pilot Study, to Evaluate Safety/Feasibility of HBOC-201 in Elective Percutaneous Coronary Revascularization of Subjects With Acute Coronary Syndromes Completed NCT00317512 Phase 2 Hemoglobin-Based Oxygen Carrier-201 (HBOC-201);Voluven
5 Phase II, Multi-Center,Single-Blind,Placebo-Controlled Study,Evaluating Safety & Feasibility of HBOC-201 (Wound Healing Patients With Peripheral Vascular Disease & Undergoing Lower Limb Amputation Due to Critical Lower Limb Ischemia Terminated NCT00300040 Phase 2 Hemoglobin glutamer 250 - bovine;6% Hydroxyethylstarch
6 Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
7 Genetic Counseling for Breast Cancer Survivors (GC for BC) Completed NCT02451735
8 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
9 Adaptation to Living With a BRCA l/2 Mutation in Carriers and Their Partners Completed NCT01866865
10 Understanding Social, Cultural, and Religious Factors Influencing BRCA Genetic Testing in the Orthodox Jewish Community Completed NCT03624088
11 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
12 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
13 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Recruiting NCT03225170
14 Comparative Effectiveness of Interventions to Increase Guideline-based Genetic Counseling in Ethnically and Geographically Diverse Cancer Survivors Recruiting NCT03326713
15 PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations Recruiting NCT02302742
16 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk Recruiting NCT02705924
17 Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer Recruiting NCT03511690
18 Decision Support for BRCA Testing in Ethnically Diverse Women Recruiting NCT03470402
19 Prospective Randomized Multicenter Trial to Assess the Efficacy of a Structured Physical Exercise Training and Mediterranean Diet in Women With BRCA1/2 Mutations Recruiting NCT02516540
20 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer: Using Mental Models to Develop Culturally Targeted Media Recruiting NCT03075540
21 Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Recruiting NCT03006913
22 A Cluster Randomized Controlled Trial Comparing Interventions to Enhance Utilization of Genetics Services Among Breast Cancer Patients Active, not recruiting NCT01789684
23 Prospective Randomized Multicenter Trial to Assess the Feasibility of a Structured Physical Exercise Training and Mediterranean-style Diet in Women With BRCA1/2 Mutations Active, not recruiting NCT02087592
24 Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer Active, not recruiting NCT03959267
25 An Expanded IND Access Investigation of HBOC-201 Infusion in Patients With Severe Acute Anemia Who Are Unable to Receive Red Blood Cell Transfusion Available NCT03633604
26 Expanded Access Protocol Using HBOC-201 to Treat Patients With Life Threatening Anemia, for Whom Blood is Not an Option Available NCT02684474
27 Expanded Access Protocol Using HBOC-201 Available NCT02934282 HBOC-201
28 Expanded Access Protocol for the Treatment Use of HBOC-201 Enrolling by invitation NCT01881503

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

Genetic Tests for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Anatomical Context for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

41
Breast, Testes, Prostate, Skin, Brain, Liver, Endothelial

Publications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Articles related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

(show top 50) (show all 871)
# Title Authors PMID Year
1
Haemoglobin-based oxygen carriers and myocardial infarction. 38
30849245 2019
2
A novel cross-linked haemoglobin-based oxygen carrier is beneficial to sepsis in rats. 38
30983419 2019
3
Physicochemical properties and oxygen affinity of glutaraldehyde polymerized crocodile hemoglobin: the new alternative hemoglobin source for hemoglobin-based oxygen carriers. 38
30873884 2019
4
Clinical background and outcomes of risk-reducing salpingo-oophorectomy for hereditary breast and ovarian cancers in Japan. 38
31055694 2019
5
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. 38
31395037 2019
6
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. 38
30883759 2019
7
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. 38
31422574 2019
8
Selective aortic arch perfusion with fresh whole blood or HBOC-201 reverses hemorrhage-induced traumatic cardiac arrest in a lethal model of noncompressible torso hemorrhage. 38
31348400 2019
9
Prevalence of Suspected Hereditary Cancer Syndromes and Germline Mutations Among a Diverse Cohort of Probands Reporting a Family History of Prostate Cancer: Toward Informing Cascade Testing for Men. 38
31278035 2019
10
The efficacy of HBOC-201 in ex situ gradual rewarming kidney perfusion in a rat model. 38
31368159 2019
11
Freeze-dried plasma mitigates the dilution effects of a hemoglobin-based oxygen carrier (HBOC-201) in a model of resuscitation for hemorrhage and hemodilution. 38
31246911 2019
12
[Hereditary Breast and Ovarian Cancer Syndrome]. 38
31296812 2019
13
Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer. 38
30790097 2019
14
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. 38
30623411 2019
15
Military Supplement: Reassessment of The Need for An Oxygen Carrier For The Treatment of Traumatic Hemorrhage When Blood is Not An Option. 38
31348149 2019
16
Willingness to decrease mammogram frequency among women at low risk for hereditary breast cancer. 38
31270367 2019
17
Anti-N and anti-Doa immunoglobulin G alloantibody-mediated delayed hemolytic transfusion reaction with hyperhemolysis in sickle cell disease treated with eculizumab and HBOC-201: case report and review of the literature. 38
30768787 2019
18
Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women. 38
31174498 2019
19
Inhaled nitric oxide prevents systemic and pulmonary vasoconstriction due to hemoglobin-based oxygen carrier infusion: A case report. 38
30709560 2019
20
Inhaled nitric oxide for safer use of hemoglobin-based oxygen carrier infusion (HBOC): A new indication? 38
30704816 2019
21
Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X. 38
31143373 2019
22
Cancer genetic health communication in families tested for hereditary breast/ovarian cancer risk: a qualitative investigation of impact on children's genetic health literacy and psychosocial adjustment. 38
31094441 2019
23
Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer. 38
31104207 2019
24
Exploring Predictors of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer: Findings from the 2015 U.S. National Health Interview Survey. 38
31083288 2019
25
Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. 38
30535581 2019
26
High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer. 38
30725383 2019
27
Electronically ascertained extended pedigrees in breast cancer genetic counseling. 38
30251169 2019
28
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility. 38
30254378 2019
29
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. 38
31036035 2019
30
Selective Aortic Arch Perfusion with fresh whole blood or HBOC-201 reverses hemorrhage-induced traumatic cardiac arrest in a lethal model of non-compressible torso hemorrhage. 38
31211744 2019
31
Pretransplant sequential hypo- and normothermic machine perfusion of suboptimal livers donated after circulatory death using a hemoglobin-based oxygen carrier perfusion solution. 38
30588774 2019
32
Synthetic hemoglobin-based oxygen carriers are an acceptable alternative for packed red blood cells in normothermic kidney perfusion. 38
30938927 2019
33
Engineering tyrosine residues into hemoglobin enhances heme reduction, decreases oxidative stress and increases vascular retention of a hemoglobin based blood substitute. 38
30594736 2019
34
Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis. 38
30898109 2019
35
Concerns and Expectations of Risk-Reducing Surgery in Women with Hereditary Breast and Ovarian Cancer Syndrome. 38
30841601 2019
36
A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer. 38
30521987 2019
37
Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients. 38
30506513 2019
38
BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report. 38
30715675 2019
39
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer. 38
30472649 2019
40
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. 38
29846880 2019
41
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer. 38
30858899 2019
42
Challenges in Managing Patients with Hereditary Cancer at Gynecological Services. 38
31263500 2019
43
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies. 38
31346352 2019
44
The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients. 38
30498870 2019
45
Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review. 38
31002019 2019
46
Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes. 38
30651894 2019
47
Cross-linked hemoglobin bis-tetramers from bioorthogonal coupling do not induce vasoconstriction in the circulation. 38
30444016 2019
48
[Beneficial effects of hemoglobin-based oxygen carriers on early resuscitation in rats with uncontrolled hemorrhagic shock]. 38
30707874 2019
49
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15. 38
31191615 2019
50
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. 38
30159786 2018

Variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

GO Terms for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....