Hereditary Breast Ovarian Cancer Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRD200 MIFTS: 70	Hereditary Breast Ovarian Cancer Syndrome Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Hereditary Breast Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Breast Ovarian Cancer Syndrome:

Name: Hereditary Breast Ovarian Cancer Syndrome ¹¹ ²⁸ ⁵ ¹⁴

Hereditary Breast and Ovarian Cancer Syndrome ¹¹ ⁵⁸ ⁴³ ⁷¹ ³³

Brca1- and Brca2-Associated Hereditary Breast and Ovarian Cancer ¹¹ ²⁴

Breast and/or Ovarian Cancer ²⁸ ⁵

Hereditary Breast and Ovarian Cancer ¹¹

Breast and Ovarian Cancer Syndrome ¹¹

Brca1- Brca2-Associated Hboc ²⁴

Hboc Syndrome ¹¹

Characteristics:

Inheritance:

Hereditary Breast and Ovarian Cancer Syndrome: Autosomal dominant ⁵⁸

Age Of Onset:

Hereditary Breast and Ovarian Cancer Syndrome: All ages ⁵⁸

GeneReviews:

²⁴

Penetrance The penetrance of breast, ovarian, and other cancers associated with pathogenic variants in brca1 and brca2 is less than 100% (see table 2).

Classifications:

MalaCards categories:
Global: Cancer diseases Rare diseases Genetic diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Neoplasms

Malignant neoplasm of breast

Malignant neoplasms of female genital organs

Malignant neoplasm of ovary

ICD11: ³³

Neoplasms

Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues

Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues

Malignant neoplasms of breast

Hereditary breast and ovarian cancer syndrome

Orphanet: ⁵⁸

Rare gynaecological and obstetric diseases

External Ids:

Disease Ontology ¹¹ DOID:5683

MeSH ⁴³ D061325

NCIt ⁴⁹ C8493

SNOMED-CT ⁶⁸ 718220008

ICD10 via Orphanet ³² C50 C56

UMLS via Orphanet ⁷² C0677776

Orphanet ⁵⁸ ORPHA145

SNOMED-CT via HPO ⁶⁹ 123843001 126859007 2092003 more

ICD11 ³³ 1258896144

UMLS ⁷¹ C0677776

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Summaries for Hereditary Breast Ovarian Cancer Syndrome

Orphanet: ⁵⁸ Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.

MalaCards based summary: Hereditary Breast Ovarian Cancer Syndrome, also known as hereditary breast and ovarian cancer syndrome, is related to hereditary site-specific ovarian cancer syndrome and ovarian cancer. An important gene associated with Hereditary Breast Ovarian Cancer Syndrome is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Gene expression (Transcription) and Disease. The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, ovary and prostate, and related phenotypes are ovarian neoplasm and primary peritoneal carcinoma

Disease Ontology: ¹¹ A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families.

GeneReviews: NBK1247

Sources

Related Diseases for Hereditary Breast Ovarian Cancer Syndrome

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 Hereditary Breast Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary site-specific ovarian cancer syndrome	32.9	RAD51L3-RFFL RAD51D RAD51C BRCA2 BRCA1
2	ovarian cancer	32.2	TP53 RAD51L3-RFFL RAD51D RAD51C PTEN PMS2
3	ovarian cancer 1	32.0	RAD51C PALB2 NBN BRIP1 BRCA2 BRCA1
4	lynch syndrome	31.8	XRCC2 TP53 RAD51D RAD51C PTEN PMS2
5	fanconi anemia, complementation group a	31.8	XRCC2 TP53 RAD51D RAD51C RAD50 PTEN
6	breast-ovarian cancer, familial 1	31.8	RAD51C PALB2 NBN BRIP1 BRCA2 BRCA1
7	lynch syndrome 1	31.7	RAD51L3-RFFL RAD51D PMS2 PALB2 MSH6 MSH2
8	pancreatic cancer	31.7	TP53 PTEN PALB2 NBN MSH6 MSH2
9	serous cystadenocarcinoma	31.6	TP53 RAD51D RAD51C PTEN PMS2 MSH6
10	sporadic breast cancer	31.6	TP53 RAD51C PTEN PALB2 CHEK2 BRIP1
11	xeroderma pigmentosum, variant type	31.4	TP53 NBN MSH6 MSH2 MLH1 CHEK2
12	breast cancer	31.4	XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
13	inherited cancer-predisposing syndrome	31.4	XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
14	bap1 tumor predisposition syndrome	31.4	XRCC2 TP53 RAD51L3-RFFL RAD51D RAD51C RAD50
15	bilateral breast cancer	31.4	TP53 RAD51D RAD51C PTEN PALB2 MLH1
16	breast-ovarian cancer, familial 2	31.3	BRCA2 BRCA1
17	hereditary breast cancer	31.3	XRCC2 PALB2 CHEK2 BRCA2 BRCA1
18	prostate cancer	31.3	TP53 RAD51D PTEN PMS2 NBN MSH6
19	cowden syndrome	31.3	TP53 RAD51D RAD51C PTEN PMS2 PALB2
20	diffuse gastric cancer	31.3	TP53 RAD51D RAD51C PTEN PMS2 PALB2
21	diffuse gastric and lobular breast cancer syndrome	31.3	TP53 RAD51D RAD51C PTEN PMS2 PALB2
22	fallopian tube carcinoma	31.3	TP53 RAD51D RAD51C PTEN PALB2 MSH6
23	li-fraumeni syndrome	31.2	TP53 RAD51D RAD51C PTEN PMS2 PALB2
24	colorectal cancer	31.2	TP53 RAD50 PTEN PMS2 PALB2 NBN
25	nijmegen breakage syndrome	31.2	TP53 RAD51C RAD50 NBN CHEK2 C11orf65
26	adenocarcinoma	31.2	TP53 PTEN MSH6 MSH2 MLH1 C11orf65
27	endometrial cancer	31.1	TP53 PTEN PMS2 MSH6 MSH2 MLH1
28	premature menopause	31.1	TP53 RAD51C PTEN NBN CHEK2 BRCA2
29	colonic benign neoplasm	31.1	TP53 PTEN PMS2 PALB2 MSH6 MSH2
30	ataxia-telangiectasia	31.1	TP53 RAD50 PTEN NBN CHEK2 C11orf65
31	neurofibromatosis, type i	31.1	TP53 PTEN PMS2 MSH6 MSH2 MLH1
32	oligodendroglioma	31.1	TP53 PTEN PMS2 MSH6 MSH2 MLH1
33	endometrial serous adenocarcinoma	31.1	TP53 PTEN BRCA1 ATM
34	neurofibromatosis	31.1	TP53 PTEN PMS2 MSH6 MSH2 MLH1
35	cystadenocarcinoma	31.0	TP53 PTEN BRCA2 BRCA1
36	familial adenomatous polyposis	31.0	TP53 PMS2 MSH6 MSH2 MLH1
37	ductal carcinoma in situ	31.0	TP53 PTEN BRCA2 BRCA1
38	ovary adenocarcinoma	31.0	TP53 PTEN MLH1 BRCA2 BRCA1
39	papillary serous adenocarcinoma	31.0	TP53 BRCA2 BRCA1
40	rectal benign neoplasm	31.0	TP53 PMS2 MSH6 MSH2 MLH1
41	ovarian cystadenocarcinoma	31.0	TP53 PTEN BRCA2 BRCA1
42	ovarian serous carcinoma	31.0	TP53 BRCA2 BRCA1
43	female breast cancer	31.0	TP53 MLH1 BRCA2 BRCA1
44	transitional cell carcinoma	31.0	TP53 PTEN MSH2 MLH1
45	fanconi anemia, complementation group d2	30.9	BRCA2 BRCA1 ATM
46	rectum cancer	30.9	TP53 MSH6 MSH2 MLH1
47	breast-ovarian cancer, familial 4	30.9	RAD51L3-RFFL RAD51D
48	peutz-jeghers syndrome	30.9	TP53 PTEN BRCA2
49	appendix adenocarcinoma	30.8	TP53 MSH6
50	lynch syndrome 4	30.7	PMS2 MLH1

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

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Symptoms & Phenotypes for Hereditary Breast Ovarian Cancer Syndrome

Human phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

⁵⁸ ³⁰ (show all 8)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ovarian neoplasm ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100615
2	primary peritoneal carcinoma ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030406
3	abnormal fallopian tube morphology ³⁰	Hallmark (90%)		HP:0011027
4	breast carcinoma ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003002
5	melanoma ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002861
6	neoplasm of the pancreas ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002894
7	prostate cancer ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0012125
8	abnormality of the fallopian tube ⁵⁸		Very frequent (99-80%)

GenomeRNAi Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

²⁵ (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	10.29	BARD1 BRCA1 BRCA2 MLH1 NBN PALB2
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	10.29	ATM BRCA1 BRCA2 BRIP1 MLH1 PALB2
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	10.29	ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
4	Decreased homologous recombination repair frequency	GR00151-A-1	10.03	BARD1 BRCA1
5	Decreased homologous recombination repair frequency	GR00151-A-2	10.03	BRCA1
6	Decreased homologous recombination repair frequency	GR00236-A-1	10.03	BARD1 BRCA1 BRCA2 PALB2
7	Decreased homologous recombination repair frequency	GR00236-A-2	10.03	BARD1 BRCA1 BRCA2 PALB2
8	Decreased homologous recombination repair frequency	GR00236-A-3	10.03	BARD1 BRCA1 BRCA2 PALB2
9	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.77	BARD1 BRCA1 BRCA2 MSH2 RAD51D
10	Synthetic lethal with cisplatin	GR00101-A-1	9.62	BARD1 BRCA1 BRCA2 BRIP1
11	Decreased viability with cisplatin	GR00101-A-4	9.56	BARD1 BRCA1 BRCA2 BRIP1
12	Decreased viability after ionizing radiation	GR00232-A-2	9.13	ATM BRCA1 BRCA2

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer Syndrome:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	10.44	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2	homeostasis/metabolism	MP:0005376	10.4	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3	nervous system	MP:0003631	10.37	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4	growth/size/body region	MP:0005378	10.32	ATM BARD1 BRCA1 BRCA2 BRIP1 MLH1
5	cellular	MP:0005384	10.3	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
6	endocrine/exocrine gland	MP:0005379	10.27	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
7	embryo	MP:0005380	10.21	ATM BARD1 BRCA1 BRCA2 NBN PALB2
8	limbs/digits/tail	MP:0005371	10.11	BRCA1 BRCA2 PALB2 PTEN RAD50 RAD51D
9	immune system	MP:0005387	10.1	ATM BRCA1 BRCA2 CHEK2 MLH1 MSH2
10	reproductive system	MP:0005389	10.07	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
11	digestive/alimentary	MP:0005381	10.01	BRCA1 BRCA2 MLH1 MSH2 PMS2 PTEN
12	hematopoietic system	MP:0005397	9.97	ATM BRCA1 BRCA2 BRIP1 CHEK2 MLH1
13	mortality/aging	MP:0010768	9.89	ATM BARD1 BRCA1 BRCA2 CHEK2 MLH1
14	integument	MP:0010771	9.36	ATM BRCA1 BRCA2 MLH1 MSH2 MSH6

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Drugs & Therapeutics for Hereditary Breast Ovarian Cancer Syndrome

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

(show top 50) (show all 51)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cyclophosphamide

Approved, Investigational

Phase 2

50-18-0, 6055-19-2

2907

Doxorubicin

Approved, Investigational

Phase 2

23214-92-8

31703

Zoledronic acid

Approved

Phase 2

118072-93-8

68740

Carboplatin

Approved

Phase 1, Phase 2

41575-94-4

10339178 38904

Durvalumab

Approved, Investigational

Phase 1, Phase 2

1428935-60-7

Olaparib

Approved

Phase 1, Phase 2

763113-22-0

23725625

Imidazole

Experimental, Investigational

Phase 2

288-32-4

795

Immunologic Factors

Phase 2

Anti-Bacterial Agents

Phase 2

Antirheumatic Agents

Phase 2

Alkylating Agents

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Antibiotics, Antitubercular

Phase 2

Liposomal doxorubicin

Phase 2

Immunosuppressive Agents

Phase 2

Poly(ADP-ribose) Polymerase Inhibitors

Phase 1, Phase 2

Antineoplastic Agents, Immunological

Phase 1, Phase 2

Levoleucovorin

Approved, Experimental, Investigational

Phase 1

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Sargramostim

Approved, Investigational

Phase 1

123774-72-1

Paclitaxel

Approved, Vet_approved

Phase 1

33069-62-4

36314

Pancrelipase

Approved, Investigational

Phase 1

53608-75-6

8519

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1

59-30-3

6037

Molgramostim

Investigational

Phase 1

99283-10-0

Veliparib

Investigational

Phase 1

912444-00-9

11960529

Vitamins

Phase 1

Folate

Phase 1

Vaccines

Phase 1

Vitamin B9

Phase 1

Vitamin B Complex

Phase 1

Hematinics

Phase 1

Albumin-Bound Paclitaxel

Phase 1

Antimitotic Agents

Phase 1

Tubulin Modulators

Phase 1

Pancreatin

Phase 1

Caffeine

Approved

58-08-2

2519

Zinc cation

Approved, Experimental, Investigational

7440-66-6, 23713-49-7

32051

Selenium

Approved, Investigational, Vet_approved

7783-07-5, 7782-49-2

533

Lycopene

Approved, Investigational

502-65-8

446925

Curcumin

Approved, Investigational

458-37-7, 84765-67-3

969516

Ethanol

Approved

64-17-5

702

Indole-3-carbinol

Investigational

700-06-1

3712

Indole

Experimental

120-72-9

798

Resveratrol

Investigational

501-36-0

445154

Genistein

Investigational

446-72-0

5280961

Hormones

Trace Elements

Micronutrients

Carotenoids

Phytoestrogens

Antioxidants

Interventional clinical trials:

(show all 50)

#	Name	Status	NCT ID	Phase	Drugs
1	Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study	Completed	NCT02562170	Phase 4
2	Evaluating the Effectiveness of Inquiry Based Stress Reduction (IBSR) Intervention Versus Regular Care of no Treatment on Well-being, Optimism and Health Behavior of BRCA1/2 Carriers: A Randomized Controlled Trial, RCT.	Unknown status	NCT03162276	Phase 3
3	Neoadjuvant Carboplatin in Triple Negative Breast Cancer - A Prospective Phase II Study (NACATRINE Trial).	Unknown status	NCT02978495	Phase 2	Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide
4	A Phase II Randomized Study of the Effect of Zoledronic Acid Versus Observation on Bone Mineral Density of the Lumbar Spine in Women Who Elect to Undergo Surgery That Results in Removal of Both Ovaries	Completed	NCT00305695	Phase 2	Zoledronic Acid
5	Pilot Randomized Controlled Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers	Completed	NCT01367639	Phase 2
6	Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer	Completed	NCT01333748	Phase 2
7	A Modular Phase I, Open-Label, Multicentre Study to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Anti-tumour Activity of Ceralasertib in Combination With Cytotoxic Chemotherapy and/or DNA Damage Repair/Novel Anti-cancer Agents in Patients With Advanced Solid Malignancies.	Recruiting	NCT02264678	Phase 1, Phase 2	Administration of ceralasertib in combination with carboplatin;Administration of ceralasertib;Administration of ceralasertib in combination with olaparib;Administation of ceralasertib in combination with durvalumab
8	Phase Ib Trial of Two Folate Binding Protein (FBP) Peptide Vaccines (E39 and J65) in Breast and Ovarian Cancer Patients	Completed	NCT02019524	Phase 1
9	A Phase 1 Study of ABT-888 in Combination With Carboplatin and Paclitaxel in Advanced Solid Malignancies	Completed	NCT00535119	Phase 1	Carboplatin;Paclitaxel;Veliparib
10	Intraperitoneal Aerosolization of Albumin-stabilized Paclitaxel Nanoparticles for Stomach, Pancreas, Breast and Ovarian Cancer	Completed	NCT03304210	Phase 1	PIPAC with Abraxane
11	A Phase 1 Study of Chronically-Dosed, Single-Agent ABT-888 in Patients With Either BRCA 1/2 -Mutated Cancer; Platinum-Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer; or Basal-Like Breast Cancer	Completed	NCT00892736	Phase 1	Veliparib
12	A Phase I Study With an Expansion Cohort of the PARP Inhibitor AZD2281 (KU-0059436) Combined With Carboplatin in Breast and Ovarian Cancer in BRCA1/2 Mutation Carriers (Familial Breast and Ovarian Cancer) and Sporadic Triple Negative Breast Cancer and Ovarian Cancer	Completed	NCT01445418	Phase 1	AZ2281 + Carboplatin
13	Cohort Study on Characters and Distribution of Inherited Susceptible Genes Among Epithelial Ovarian Cancer Patients and Their Relatives in the North of China	Unknown status	NCT03015376
14	Evaluation of the Adhesion to the Network of Care of People at Genetic Risk of Cancer in Midi-Pyrénées (GENEPY)	Unknown status	NCT03979612
15	Tissue Expansion in Breast Reconstruction Without Drains: A Study Using a Tissue Expander That Collects Periprosthetic Fluid	Completed	NCT03784859
16	Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer: Using Mental Models to Develop Culturally Targeted Media	Completed	NCT03075540
17	Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer	Completed	NCT02786147
18	Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC)	Completed	NCT00829959
19	Statewide Communication to Reach Diverse Low Income Women	Completed	NCT02956681
20	University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing	Completed	NCT02324062
21	Genetic Risk: Whether, When, and How to Tell Adolescents	Completed	NCT03421327
22	Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics	Completed	NCT00609505
23	Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer	Completed	NCT03511690
24	Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling	Completed	NCT03225170
25	A Randomized Controlled Trial to Enhance the Use of Genetic Counseling and Testing in Latinas	Completed	NCT04544501
26	Transcriptomes Breast, Ovarian and Leukocyte Hereditary Genes Predisposing to Breast and / or Ovarian Cancer	Completed	NCT02560818
27	Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer	Completed	NCT03959267
28	Risk-Reducing Surgeries of Salpingo-oophorectomy With/Without Hysterectomy for Carriers With Mutation Genes of Hereditary Ovarian Cancer	Recruiting	NCT03294343
29	PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations	Recruiting	NCT02302742
30	Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents	Recruiting	NCT03832985	Early Phase 1
31	Familial Investigations of Childhood Cancer Predisposition	Recruiting	NCT03050268
32	Multifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection	Recruiting	NCT04668521
33	Evaluation of the Circulating Concentration of Olfactomédine 4 (OLFM4) in Women With a BRCA1 or 2 Gene Mutation or at High Risk of Developing Breast Cancer, According to the Imaging	Recruiting	NCT02653105
34	Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland	Recruiting	NCT03124212
35	Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome	Recruiting	NCT04009148
36	Genetic Predisposition to Breast and Ovarian Cancer: Prospective Study of BRCAx Gene Mutation	Recruiting	NCT03667417
37	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
38	Investigation of Tumour Spectrum, Penetrance and Clinical Utility of Germline Mutations in New Breast and Ovarian Cancer Susceptibility Genes.	Recruiting	NCT03246841
39	Approaches to Identify and Care for Individuals With Inherited Cancer Syndromes	Recruiting	NCT04494945
40	Implementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome	Recruiting	NCT04508764
41	Study of Quality of Life Post Preventive Salpingo-oophorectomy in Healthy BRCA1/2 and PALB2 Mutation Carriers	Recruiting	NCT05409222
42	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
43	WISP (Women Choosing Surgical Prevention)	Active, not recruiting	NCT02760849
44	Radical Fimbriectomy for Young BRCA Mutation Carriers at Risk of Pelvic Serous Carcinoma	Active, not recruiting	NCT01608074
45	Effects of a Nutritional Intervention in DNA Damage of Patients With Hereditary Breast and Ovarian Cancer Syndrome	Active, not recruiting	NCT05306002
46	Direct Information to At-risk Relatives - a Randomized Controlled Multicentre Trial of Healthcare-assisted Versus Family-mediated Disclosure of Hereditary Cancer Risk Information in High-risk Families in Sweden	Enrolling by invitation	NCT04197856
47	Informing Latinas About HBOC Risk: a Randomized Controlled Trial	Enrolling by invitation	NCT05130606
48	Testing Scalable Communication Modalities for Returning Breast Cancer Genetic Research Results to African American Women	Not yet recruiting	NCT04407611
49	A Comparative Effectiveness Study of Cancer Risk Management for Women at Elevated Genetic Risk of Ovarian Cancer	Not yet recruiting	NCT01445275
50	Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk	Terminated	NCT02705924

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer Syndrome

Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

Sources

Genetic Tests for Hereditary Breast Ovarian Cancer Syndrome

Genetic tests related to Hereditary Breast Ovarian Cancer Syndrome:

#	Genetic test	Affiliating Genes
1	Hereditary Breast Ovarian Cancer Syndrome ²⁸	BRCA1 BRCA2
2	Breast and/or Ovarian Cancer ²⁸

Sources

Anatomical Context for Hereditary Breast Ovarian Cancer Syndrome

Organs/tissues related to Hereditary Breast Ovarian Cancer Syndrome:

MalaCards : Breast, Ovary, Prostate, Pancreas, Bone, Lymph Node, Myeloid

Sources

Publications for Hereditary Breast Ovarian Cancer Syndrome

Articles related to Hereditary Breast Ovarian Cancer Syndrome:

(show top 50) (show all 3446)

#	Title	Authors	PMID	Year
1	Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. ⁶² ²⁴ ⁵	Golmard L...Houdayer C	26028024	2016
2	A common Greenlandic Inuit BRCA1 RING domain founder mutation. ⁶² ²⁴ ⁵	Hansen TV...Nielsen FC	18500671	2009
3	Founder mutations in BRCA1 and BRCA2 genes. ⁶² ²⁴ ⁵	Ferla R...Russo A	17591843	2007
4	Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. ²⁴ ⁵	Yang X...Tischkowitz M	31841383	2020
5	Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. ²⁴ ⁵	Cox DM...Collins DL	30152102	2018
6	Male BRCA mutation carriers: clinical characteristics and cancer spectrum. ²⁴ ⁵	Ibrahim M...Zakalik D	29433453	2018
7	The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. ²⁴ ⁵	Moghadasi S...Garcia EG	28490613	2018
8	A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer. ²⁴ ⁵	Antonucci I...Stuppia L	28265380	2017
9	BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. ²⁴ ⁵	Meeks HD...Goldgar DE	26586665	2016
10	Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. ²⁴ ⁵	Ramus SJ...Gayther SA	26315354	2015
11	Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. ²⁴ ⁵	Golan T...Gallinger S	25072261	2014
12	Breast-cancer risk in families with mutations in PALB2. ²⁴ ⁵	Antoniou AC...Tischkowitz M	25099575	2014
13	BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. ²⁴ ⁵	Spurdle AB...ENIGMA Consortium	22889855	2012
14	BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. ²⁴ ⁵	Alsop K...Mitchell G	22711857	2012
15	Germline BRCA1 mutations increase prostate cancer risk. ²⁴ ⁵	Leongamornlert D...Kote-Jarai Z	22516946	2012
16	Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. ²⁴ ⁵	Lee E...Ursin G	22010008	2011
17	BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. ²⁴ ⁵	Kote-Jarai Z...Eeles R	21952622	2011
18	Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. ²⁴ ⁵	Fong PC...de Bono JS	19553641	2009
19	A high frequent BRCA1 founder mutation identified in the Greenlandic population. ²⁴ ⁵	Harboe TL...Bisgaard ML	19504351	2009
20	Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. ²⁴ ⁵	Tai YC...Chen S	18042939	2007
21	Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. ²⁴ ⁵	Risch HA...Narod SA	17148771	2006
22	BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. ²⁴ ⁵	Rafnar T...Thorlacius S	15571962	2004
23	A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. ²⁴ ⁵	Phelan CM...Narod SA	12402332	2002
24	Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. ²⁴ ⁵	Euhus DM...Tomlinson G	12048272	2002
25	Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. ²⁴ ⁵	Frank TS...Critchfield GC	11896095	2002
26	Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. ²⁴ ⁵	King MC...National Surgical Adjuvant Breast and Bowel Project	11710890	2001
27	Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. ²⁴ ⁵		11044354	2000
28	Evidence for a BRCA1 founder mutation in families of West African ancestry. ²⁴ ⁵	Mefford HC...Arena F	10417303	1999
29	The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. ²⁴ ⁵	Struewing JP...Tucker MA	9145676	1997
30	BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. ⁶² ⁵	Hovland HN...Ognedal E	34981296	2022
31	Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country. ⁶² ⁵	Krivokuca A...Brankovic-Magic M	34284872	2022
32	Clinical and pathological outcomes of risk-reducing salpingo-oophorectomy for Japanese women with hereditary breast and ovarian cancer. ⁶² ⁵	Nomura H...Kanao H	34453642	2021
33	Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing. ⁶² ⁵	Patruno M...Paradiso A	34572941	2021
34	Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families. ⁶² ⁵	Fonfria M...Martinez-Duenas E	34204722	2021
35	Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario. ⁶² ⁵	Lerner-Ellis J...Charames GS	32885271	2021
36	Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean. ⁶² ⁵	George SHL...Hurley JE	33646313	2021
37	Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer. ⁶² ⁵	Moradian MM...Sarkisian TF	33558524	2021
38	Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution. ⁶² ⁵	Kobayashi Y...Aoki D	33037428	2021
39	Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC. ⁶² ⁵	Xu Z...Peng H	33563323	2021
40	Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). ⁶² ⁵	Tokunaga H...Yasuda J	33428613	2021
41	Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. ⁶² ⁵	Vargas-Parra G...Lazaro C	32906215	2020
42	Five Italian Families with Two Mutations in BRCA Genes. ⁶² ⁵	Vietri MT...Molinari AM	33287145	2020
43	Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene. ⁶² ⁵	Sanoguera-Miralles L...Velasco EA	33333735	2020
44	The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? ⁶² ⁵	Hoberg-Vetti H...Knappskog PM	32203205	2020
45	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. ⁶² ⁵	Fahed AC...Khera AV	32820175	2020
46	Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer? ⁶² ⁵	Nguyen-Dumont T...Myszka A	32772980	2020
47	Population genetic screening efficiently identifies carriers of autosomal dominant diseases. ⁶² ⁵	Grzymski JJ...Lu JT	32719484	2020
48	Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide. ⁶² ⁵	Hirotsu Y...Omata M	32486089	2020
49	Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. ⁶² ⁵	Incorvaia L...Bazan V	32380732	2020
50	Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome. ⁶² ⁵	Yoo J...Kim M	31650731	2020

Sources

Genes for Hereditary Breast Ovarian Cancer Syndrome

Genes related to Hereditary Breast Ovarian Cancer Syndrome (30 elite genes):

(show top 50) (show all 142)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	892.77	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	2010458 2673801 8524414 (more) 8589730 8640235 8673089 8673090 8673091 8705994 8706004 8758903 8896551 8988179 9012404 9042907 9042909 9126734 9133456 9145678 9150150 9150152 9150154 9150155 9150172 9245992 9361038 9405383 9429140 9536098 9537232 9585608 9585613 9609997 9634522 9643283 9654203 9667259 9699678 9758598 9766673 9792861 9836472 9840533 9971877 10070953 10188893 10227398 10323242 10359546 10417300 10449599 10486320 10498392 10505028 10550133 10615237 10638982 10644434 10682686 10699917 10717622 10785486 10790213 10807692 10874312 10899649 10923033 10969800 10978364 10980621 10995809 11030417 11030418 11039575 11044354 11056688 11102977 11102978 11102986 11106360 11139248 11149425 11179017 11185744 11207042 11241844 11267991 11284040 11304778 11389159 11400546 11504767 11512557 11595708 11597388 11606101 11710835 11754111 11793480 11802209 11812938 11843247 11844822 11857748 11861370 11879560 11890985 11897832 11920621 11920643 11938448 11972384 12048272 12065746 12070551 12097257 12097290 12100744 12112655 12142080 12145750 12161607 12181777 12203997 12204006 12373604 12402332 12414830 12442275 12461697 12474142 12491487 12491499 12543786 12569143 12601471 12606139 12624152 12655515 12655560 12655567 12655574 12672316 12673801 12698193 12750261 12759930 12774040 12845657 12872265 12920083 12928470 12938098 12942367 12955716 12960223 14517958 14531499 14555518 14559878 14574155 14574168 14647210 14670928 14672397 14684619 14722926 14732925 14735197 14746861 14757871 14973102 14981104 14985394 15004464 15024741 15026808 15070707 15117986 15131399 15146557 15168169 15172125 15217494 15290653 15340362 15382066 15475941 15519522 15533909 15548363 15548676 15635067 15642173 15645491 15689453 15695382 15728167 15733268 15858120 15863663 15876480 15887246 15889636 15918047 15937982 15944772 15951958 15955690 15994883 16015582 16030099 16047344 16088935 16115142 16140926 16162645 16168118 16168123 16170354 16199546 16199547 16211554 16234499 16261400 16284991 16324400 16389418 16418514 16455195 16489001 16528604 16539696 16550498 16551709 16615107 16616110 16619214 16644204 16683254 16758124 16760289 16764716 16792514 16793542 16825431 16826315 16847550 16875939 16905680 16912212 16920162 16931905 16949048 16950820 16998791 17011978 17020472 17026620 17063270 17063271 17100994 17148771 17224268 17262179 17301269 17333343 17413421 17445839 17453335 17513806 17515903 17565157 17576681 17591842 17591843 17592676 17624602 17636422 17640379 17688236 17700570 17761984 17826769 17851763 17899372 17924331 17925560 17972171 17972177 17997147 18006916 18042939 18092194 18094411 18097605 18176857 18182601 18182994 18284688 18286383 18330910 18363094 18393245 18403564 18424508 18431501 18445692 18446624 18451181 18465347 18489799 18497862 18563556 18593900 18597679 18607349 18627636 18694767 18703817 18712473 18779604 18783588 18819001 18821011 18824701 18951446 18951449 19016756 19043619 19073510 19179552 19200354 19241424 19288190 19298662 19329713 19340607 19353265 19369211 19377795 19423647 19471317 19478387 19491284 19499246 19530235 19542536 19563646 19616529 19619314 19620486 19654294 19656164 19656415 19714488 19715467 19763152 19787003 19796187 19805903 19806429 19818148 19863560 19894111 19912264 19941162 19941167 19949853 19949876 19996028 20002770 20020529 20033483 20043088 20104584 20167696 20174566 20215541 20223018 20232139 20232141 20301425 20307669 20353281 20373018 20380699 20383589 20513136 20567915 20609467 20616022 20617377 20625817 20652400 20683152 20694749 20736950 20807450 20858050 20859677 20927582 20960027 20960228 21063910 21120943 21138478 21184276 21190077 21203900 21204799 21218378 21232165 21233401 21305653 21318380 21324516 21394826 21465317 21520273 21520333 21523855 21548014 21559243 21607582 21614564 21643751 21671020 21673748 21702907 21709188 21719596 21720365 21735045 21769658 21895635 21913181 21918853 21934105 21939546 21947752 21952622 21965345 21989927 21990134 21990165 21990299 21993507 22006311 22009639 22025144 22034289 22044689 22072316 22085629 22109874 22144684 22160602 22217648 22228431 22366370 22382806 22399190 22401979 22406018 22425665 22426013 22430266 22434521 22460208 22486713 22505045 22527104 22535016 22632462 22638694 22666503 22678057 22682623 22711857 22720145 22729890 22752604 22762150 22771033 22776961 22798144 22829013 22864640 22866093 22875640 22895246 22923021 22962691 22970155 22977638 22984553 23028338 23035815 23096105 23096355 23099436 23108138 23110154 23179792 23199084 23231788 23233716 23242139 23249957 23315985 23318356 23320992 23328489 23397983 23415752 23451180 23469205 23479189 23524863 23531862 23569316 23583677 23593081 23613520 23613828 23621881 23633455 23635950 23683081 23697973 23704984 23725378 23754601 23767878 23772696 23884708 23885733 23893897 23929434 23942203 23961350 23983145 24010542 24013206 24013928 24065114 24082139 24094589 24123850 24131973 24145998 24152768 24156927 24212087 24240112 24249303 24285729 24301060 24302565 24307375 24312913 24321281 24323938 24333842 24448499 24504028 24522996 24528374 24549055 24556621 24578176 24578186 24607278 24728189 24728327 24728577 24735155 24737347 24742220 24814045 24825132 24830819 24884479 24916970 24959366 24961674 24963353 24980567 25007954 25066186 25066507 25072261 25085752 25111659 25136594 25146914 25151137 25186627 25236687 25256924 25320599 25330149 25342642 25356972 25366421 25371446 25382762 25395318 25415331 25428789 25447315 25452441 25476495 25479140 25485004 25504618 25525159 25556971 25586199 25628955 25637381 25639900 25652403 25678442 25682074 25685387 25716084 25743105 25777348 25802882 25850536 25863477 25864590 25884701 25896959 25927356 25940717 25948282 25980754 26000489 26004055 26010302 26014432 26023681 26026974 26028024 26046366 26137147 26147798 26150619 26183948 26187060 26207792 26219728 26221963 26250392 26287763 26296696 26296701 26300996 26306726 26317927 26350514 26360800 26436112 26439132 26483394 26534844 26541979 26543556 26546047 26556299 26564481 26577449 26580448 26586665 26657402 26659639 26681312 26681682 26687385 26689913 26709275 26718727 26733283 26757417 26761715 26787237 26822237 26824983 26833046 26834852 26843898 26845104 26846091 26848529 26852015 26852130 26867194 26911350 26913838 26915939 26920070 26968956 26976419 26997744 27000661 27060066 27062684 27082205 27083178 27083775 27084275 27124784 27125725 27135926 27157322 27165220 27194814 27223485 27225637 27225819 27257965 27322732 27356891 27376475 27383479 27393621 27406733 27425403 27433846 27469594 27478808 27498913 27553291 27553368 27603373 27616075 27670257 27721756 27732944 27741520 27767231 27798748 27831900 27836010 27882536 27886673 27907908 27974384 27978560 27989354 28008555 28028924 28039656 28049253 28091860 28102861 28111427 28127413 28135145 28152038 28176296 28179634 28184945 28185119 28205045 28281021 28284943 28288110 28291774 28294317 28299801 28301460 28324225 28339459 28349240 28423363 28454591 28476184 28477318 28486781 28503720 28525389 28528518 28538113 28595730 28637432 28655807 28664449 28664506 28678401 28680148 28720843 28724667 28726806 28726808 28744403 28765325 28767289 28802053 28814288 28825054 28831036 28873162 28888541 28905878 28943953 28947987 28961279 28985766 28993434 29020660 29020732 29021639 29025590 29084914 29088781 29093764 29161300 29164420 29176636 29202330 29310832 29335924 29335925 29339979 29360161 29368341 29371908 29383094 29394989 29398457 29409476 29435039 29439820 29446198 29464067 29470806 29478780 29483665 29486991 29487695 29506128 29566657 29580235 29601120 29673794 29700634 29707112 29752822 29753700 29785135 29881398 29884136 29884841 29906450 29907814 29909963 29922827 29936257 29961768 29969168 29983880 29988080 30014164 30039884 30055349 30078507 30093976 30103829 30128899 30130155 30154229 30199306 30207912 30214756 30254663 30263092 30274973 30287823 30322717 30339520 30350268 30425037 30441849 30555256 30606148 30630528 30635808 30652428 30696104 30702160 30716324 30720243 30720863 30736279 30792206 30825404 30832263 30883245 30883759 30927264 30940100 30982232 31065452 31090900 31112341 31112363 31131559 31131967 31174498 31191615 31209999 31214711 31300551 31331294 31336956 31341520 31343793 31409081 31447099 31469826 31528241 31558676 31640893 31666926 31706072 31742824 31771539 31815095 31825140 31843900 31853058 31871109 31948886 32046981 32058061 32072338 32091409 32164585 32341426 32393398 32398771 32427313 32438681 32444794 32454976 32532514 32554602 32658311 32719484 32720318 32761968 32772980 32776218 32806537 32814805 32820175 32832836 32846166 32853339 32856869 32862574 32885271 32906206 32918181 32939053 33020491 33067557 33287145 33428613 33462368 33471991 33479248 33558524 33573335 33609447 33646313 33780288 33804961 33850299 33893315 34046351 34063308 34196900 34284872 34399810 34572941 34594355 219131812 12915460 15115758 17541404 17971607 18212739 20450923 20455026 20608899 21638052 22473970 22544547 23704879 25640679 26740091 27495310 27852271 29280214 30032850 30054569 30174293 30263132 30415210 30742731 31143303 31454914 31608315 31642931 31780705 31786208 32133419 32980694 16112002
2	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	892.76	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	20 2173504 2206311 (more) 2246425 2316185 7493024 7545954 7606717 7611277 7627958 7663517 7795652 7837387 7894491 7894492 7894493 7939630 8460636 8531967 8531968 8533757 8554067 8571953 8595420 8595428 8602198 8606385 8622478 8642955 8644702 8651293 8723683 8764110 8776600 8807330 8808710 8875986 8880569 8900426 8933332 8942979 8944023 8968102 8990217 9042907 9042909 9145676 9145677 9145678 9150149 9150151 9150153 9150171 9254884 9274454 9285788 9333265 9354803 9361038 9362443 9391879 9452076 9452084 9482581 9523200 9525870 9536098 9544766 9616287 9625424 9649133 9663595 9664122 9667259 9667663 9699523 9699640 9715372 9746028 9760198 9792861 9796975 9799248 9805131 9808526 9915971 9921907 9927062 10090482 10196379 10200350 10323242 10359546 10389907 10406662 10417303 10422801 10435598 10441573 10469836 10480351 10486320 10498392 10508480 10528853 10571952 10595255 10612800 10634513 10644434 10660329 10667595 10682662 10682686 10686936 10699917 10717622 10737987 10755399 10788334 10804288 10811118 10827109 10862036 10866028 10866029 10874312 10918394 10923033 10951344 10952774 10952777 10978226 10980541 10984458 11013445 11015464 11030418 11039575 11056688 11059339 11084537 11102986 11106241 11109172 11118466 11139249 11149413 11149425 11157798 11179017 11183185 11250694 11256609 11263928 11278247 11304778 11320250 11385711 11389159 11410501 11424920 11428389 11462239 11462242 11493753 11504767 11506493 11526114 11556835 11573086 11595708 11597388 11606101 11710890 11720839 11733976 11739404 11748305 11748848 11773283 11781691 11802208 11802209 11810084 11857748 11880951 11896095 11916966 11920621 11920643 11927492 11933205 11938448 11956590 11972384 11979449 12014998 12019214 12034536 12048272 12097257 12112655 12142080 12181777 12203994 12204006 12354934 12360411 12385650 12393792 12400015 12402332 12402341 12427738 12442273 12491487 12491499 12496477 12497638 12505256 12566964 12655560 12670888 12672316 12673801 12698193 12700174 12700893 12732733 12759930 12810666 12815598 12815604 12827452 12872265 12879478 12915465 12920083 12938098 12955716 12955719 12960223 14513821 14517958 14522380 14531499 14534301 14574011 14574155 14576432 14576433 14614327 14647443 14648706 14684619 14746861 14757871 14760071 14871810 14961556 14973102 15004537 15024741 15026808 15063971 15066328 15117986 15131401 15133502 15133503 15146556 15146557 15162129 15168169 15172985 15235020 15290653 15340362 15345110 15353005 15365993 15375703 15382066 15385441 15475941 15477862 15532023 15533909 15571962 15591272 15642173 15681486 15689452 15726418 15728167 15781624 15829246 15863663 15865297 15876480 15883839 15887246 15923272 15937982 15951957 15951958 15951973 15955237 15983021 15994883 16030099 16047344 16140926 16162645 16168118 16199547 16211554 16234499 16267036 16284991 16287141 16324400 16403807 16417652 16452482 16455195 16456781 16457150 16489001 16528604 16528612 16551709 16615107 16616110 16619214 16644204 16683254 16685647 16715518 16724249 16758124 16760289 16772120 16774946 16777318 16793929 16826315 16843109 16847550 16875939 16905680 16912212 16931905 16949048 16998791 17005433 17018160 17020472 17026620 17063270 17080309 17100994 17148771 17174087 17221156 17233897 17262179 17305420 17308087 17319787 17333342 17453335 17470134 17493881 17561994 17574839 17574969 17576681 17591842 17591843 17592676 17624602 17645508 17646271 17688236 17718857 17761984 17826769 17851763 17902052 17922257 17924331 17925560 18006916 18036263 18042939 18060491 18060494 18066063 18097605 18159056 18165637 18276013 18284688 18312450 18330910 18340530 18403564 18418466 18424508 18431737 18445692 18465347 18489799 18500671 18501021 18512148 18546071 18559594 18627636 18645608 18679828 18680205 18693280 18694767 18703817 18704682 18712473 18757339 18763032 18779604 18783588 18819001 18821011 18824701 18980973 18992264 19016756 19123044 19147582 19200354 19241424 19267246 19287957 19329713 19340607 19352458 19353265 19367322 19370767 19377795 19383375 19393826 19404736 19405878 19452558 19471317 19491284 19491894 19493677 19499246 19504351 19543972 19553641 19563646 19594371 19629655 19629752 19648928 19656415 19656998 19669600 19706752 19763152 19770520 19805903 19837273 19863560 19894111 19912264 19941162 19941167 19949876 20020529 20029420 20054658 20103620 20104584 20127978 20135348 20151938 20167696 20180014 20189727 20215541 20222996 20232141 20307669 20345474 20373018 20378548 20406939 20451485 20455026 20507347 20513136 20516115 20522429 20526115 20569256 20609467 20616022 20617377 20638108 20681793 20683152 20694749 20727672 20737206 20838878 20859677 20875879 20924075 20960228 21042765 21063910 21080930 21120943 21156238 21203900 21205087 21213370 21232165 21233401 21281505 21305653 21309043 21324156 21324516 21348412 21356067 21372787 21394826 21404118 21447777 21465171 21473589 21503673 21520273 21520333 21523855 21553119 21559243 21603858 21614564 21643751 21666281 21673748 21702907 21725363 21729660 21735045 21751003 21765009 21769658 21859355 21863257 21895635 21913181 21918854 21922593 21946536 21965345 21989927 21990134 21990165 21993507 22006311 22009639 22010008 22032251 22034289 22044689 22144684 22160602 22172724 22185575 22277901 22333603 22366370 22382806 22399190 22406018 22430266 22434525 22438049 22460208 22473970 22476429 22498944 22505045 22516946 22535016 22544547 22655046 22684231 22685544 22711857 22713736 22722201 22739995 22752604 22753008 22762150 22763381 22776961 22798144 22811390 22843421 22848303 22855649 22856468 22874498 22889855 22923021 22970155 23034506 23096105 23096355 23110154 23113073 23117300 23161852 23164213 23175448 23192404 23199084 23210696 23216102 23233716 23239986 23242139 23269703 23274591 23278966 23289006 23317271 23318652 23320992 23364291 23374397 23397983 23451180 23458327 23479189 23519070 23536787 23569316 23580280 23621881 23633455 23635950 23640417 23658460 23683081 23697973 23704984 23725378 23767878 23772696 23788959 23842040 23867111 23884293 23885733 23940062 23961350 23982851 24010542 24013928 24065545 24131973 24137399 24171766 24212087 24240112 24249303 24285858 24307375 24312913 24333842 24448499 24489791 24504028 24516540 24522996 24549055 24566764 24569164 24578176 24607278 24631698 24660075 24667779 24670361 24686251 24719479 24728189 24729269 24737347 24742220 24772314 24797986 24824628 24825132 24827135 24845084 24884479 24916180 24916970 24961674 25007954 25036526 25066186 25066507 25067956 25070656 25085752 25136594 25151137 25176351 25186627 25236687 25248401 25256238 25281711 25330149 25348012 25366075 25366421 25371446 25400221 25418591 25428789 25452441 25472942 25476495 25480878 25525159 25556971 25628955 25637381 25646469 25652403 25678442 25682074 25685387 25716084 25724305 25748678 25777348 25802882 25814778 25823446 25863477 25880076 25884701 25896959 25927356 25940717 25948282 25971625 25980754 26010302 26022348 26023681 26026974 26028024 26052229 26052455 26083025 26153499 26182302 26183948 26187060 26207792 26219728 26221963 26246475 26250392 26287763 26306726 26315209 26350514 26402875 26436112 26439132 26534844 26541979 26543556 26556299 26577449 26622941 26656232 26659639 26681312 26689913 26718727 26727311 26745875 26780556 26786923 26787237 26822237 26822949 26824983 26833046 26843898 26845104 26848529 26852015 26852130 26864382 26884819 26911350 26913838 26915939 26951538 26956035 26976419 27062684 27067391 27081505 27082205 27083178 27083775 27153395 27157322 27167707 27257965 27272900 27273131 27331142 27376475 27393621 27425403 27433846 27469594 27495310 27531819 27553291 27616075 27656653 27658390 27697421 27741520 27767231 27798748 27802165 27831900 27836010 27914478 27974384 28050010 28111427 28122244 28123851 28127413 28145423 28152038 28176296 28179634 28263838 28265380 28281021 28283652 28288110 28294317 28324225 28349240 28414925 28423363 28477318 28478614 28488140 28490613 28503720 28525389 28526081 28595730 28637432 28651617 28664506 28724667 28726808 28767289 28771233 28781887 28802053 28831036 28873162 28944232 28947987 28993434 29020732 29021639 29088781 29116469 29161300 29176636 29202330 29255180 29280214 29297111 29310340 29339979 29348823 29433453 29435039 29446198 29452958 29470806 29483665 29487695 29506128 29582426 29673794 29712865 29750258 29752822 29852322 29875428 29884136 29907814 29928469 29936257 29997359 30040829 30054569 30055521 30078507 30093976 30103829 30128899 30130155 30159786 30175445 30199306 30207098 30209399 30219179 30254663 30257646 30257991 30262796 30287823 30309222 30322717 30333958 30350268 30374176 30430080 30458859 30555256 30606148 30646163 30702160 30720863 30736279 30765603 30825404 30972954 30982232 31064392 31090900 31112363 31131967 31141992 31143303 31209999 31265121 31300551 31341520 31343793 31347298 31409081 31528241 31706072 31742824 31825140 31843900 31869745 31911673 31954625 32008151 32072338 32123317 32199636 32338768 32341426 32375709 32380732 32427313 32438681 32467295 32546644 32554602 32658311 32719484 32772980 33037428 33067557 33087888 33471991 33558524 33563323 33573335 34072659 34196900 34404389 34981296 117470134 207276720 964913311 1474686 8751436 9159158 9609997 11016938 11573085 12036913 12774040 15800311 18092194 18285836 18375895 18497862 19369211 20223018 21327469 21638052 22113256 22737296 22896685 23704879 25640679 26271414 26757417 27225819 27739435 28186987 28351343 28364669 28398198 28905878 28975465 29215753 29263802 29409476 29681614 30101128 30264118 30274973 30315757 30472649 30875412 31368036 31481248 31780705 32091409 32203205 32486089 32495382 32733560 33010199 33206196 34453642 16112002 20301425
3	RAD51C	RAD51 Paralog C	Protein Coding	783.13	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12966089 20400963 20400964 (more) 20952512 21616938 21990120 22167183 22451500 22538716 24139550 24141787 24998779 25086635 25154786 25452441 25833843 26057125 26261251 26270727 26354865 26681312 26689913 26740214 26822949 26848151 26976419 27037238 27149842 27230542 27616075 28152038 28829762 28905878 29255180 29278735 29922827 30086788 30128536 30257646 30322717 30551670 30613976 31300551 31446535 32090079 32107557 32957588 33277227 33333735 33471991 35186721 35740625 22725699 23117857 24993905 25470109 26720728 26824983 29409816 29566657 30680046 32359370
4	RAD51D	RAD51 Paralog D	Protein Coding	782.84	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	20665887 21822267 22986143 (more) 23372765 24130102 24139550 24240112 25186627 25445424 26057125 26261251 26296696 26659639 26681312 26720728 26845104 26976419 27083178 28008555 28423363 28591191 28646019 28724667 29020732 29348823 30111881 30165555 30927264 31844177 31922703 32107557 32318955 32359370 33471991 34601666 27616075 29255180 30257646 31300551
5	PALB2	Partner And Localizer Of BRCA2	Protein Coding	458.51	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	17200671 19264984 19609323 (more) 19763884 20852946 20927582 21165770 21182766 21285249 21365267 21409391 21618343 21932393 23110154 23448497 23824750 23935836 24206657 24448499 24556926 24763289 25099575 25186627 25337758 25428789 25452441 25619955 25794774 25959805 26057125 26270727 26283626 26315354 26534844 26681312 26720728 26786923 26845104 26898890 27616075 27624329 27783279 28194609 28281021 28724667 28975465 29263802 29486991 29506128 29922827 30054569 30128536 30322717 31467304 31619740 31841383 31844177 33471991 34113003 23977390 26250988 27067391 28681041 29731985 30255452 30441849 30552643 30792206 30890586 31125277 31589614 31642931 32133419 32728620 23779253
6	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	457.86	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	20077502 21344236 25330149 (more) 25452441 25980754 25994375 26010302 26075229 26315354 26329992 26483394 26546047 28050010 28174632 29700634 29790872 30322717 31036035 31341520 29292755 15342711
7	CHEK2	Checkpoint Kinase 2	Protein Coding	457.84	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	15649950 16551709 16914568 (more) 17085682 17721994 18085035 18571837 18706089 21244692 22114986 22419737 24506336 24556621 24763289 25318351 25503501 26022348 26534844 26556299 26580448 26681312 26845104 27433846 27553368 27621404 27751358 27798748 28008555 28135139 28152038 28495237 28724667 28727877 28779002 28981386 29271107 29785153 29909963 29922827 29961768 30152102 30303537 30441849 30676620 30851065 31159747 31360903 31650100 31650731 31948886 31980526 32041497 32183364 32318955 32761968 32906215 33479248 33558524 33925588 34072659 34204722 35264596 12533788 16835864 25186627 26898890 27616075 27696107 28135145 28486781 28726808 28825054 30128536 30262796 30322717 30374176 30447919 31050813 31173646 31206626 31341520 31398194 31422574 31786208 31843900 32598223 32805687 32923877 33050356 33471991 33919281 34404389 34903604 35155181 21562711
8	TP53	Tumor Protein P53	Protein Coding	457.03	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	12826609 21514416 25056374 (more) 18575712 22877736 24916180 24884479 23779253
9	BRIP1	BRCA1 Interacting Helicase 1	Protein Coding	456.85	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	16116423 16116424 16973432 (more) 17033622 18510924 18628483 19099189 19150983 19379763 19442249 19519404 20639400 20980836 21345144 22006311 22024395 22287629 22582397 23161009 23276657 23644138 23935105 24448499 24487782 24573678 24728327 24763289 24895130 25374583 25583461 26315354 26596371 26681312 26689913 26720728 26786923 26790966 26921362 27107905 28135145 28423363 28911102 29368626 29625052 29922827 30322717 30675318 31265121 31341520 31822495 32359370 32542039 32885271 33028645 33804961 33840814 34585738 25186627 25503501 25646469 25877891 25980754 28888541 29752822 30130155 30264118 30728895 30792206 31214711 31844177 33413596 34653963 34754157 34793666 34897210
10	NBN	Nibrin	Protein Coding	455.68	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	24549055 22006311 14684699
11	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	453.64	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	24894818 22006311 14684699
12	ATM	ATM Serine/Threonine Kinase	Protein Coding	432.65	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	10677309 15054841 26898890 (more) 27067391
13	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	432.53	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	MSH2	MutS Homolog 2	Protein Coding	432.49	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
15	MLH1	MutL Homolog 1	Protein Coding	432.41	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
16	PTEN	Phosphatase And Tensin Homolog	Protein Coding	431.52	Pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	23779253
17	C11orf65	Chromosome 11 Open Reading Frame 65	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	26898890
18	RAD51L3-RFFL	RAD51L3-RFFL Readthrough	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	20665887 21822267 22986143 (more) 23372765 24130102 24139550 24240112 25186627 25445424 26057125 26261251 26296696 26659639 26681312 26720728 26845104 26976419 27083178 28008555 28423363 28591191 28646019 28724667 29020732 29348823 30111881 30165555 30927264 31844177 31922703 32107557 32318955 32359370 33471991 34601666 27616075 29255180 30257646 31300551
19	MSH6	MutS Homolog 6	Protein Coding	407.49	Pathogenic ⁵ DISEASES inferred ¹⁴
20	XRCC2	X-Ray Repair Cross Complementing 2	Protein Coding	406.39	Pathogenic ⁵ DISEASES inferred ¹⁴
21	CTNNA1	Catenin Alpha 1	Protein Coding	405.06	Pathogenic ⁵ DISEASES inferred ¹⁴
22	PTCH1	Patched 1	Protein Coding	403.33	Pathogenic ⁵ DISEASES inferred ¹⁴
23	DROSHA	Drosha Ribonuclease III	Protein Coding	403.13	Pathogenic ⁵ DISEASES inferred ¹⁴
24	CTNNA2	Catenin Alpha 2	Protein Coding	400	Pathogenic ⁵
25	HERPUD1	Homocysteine Inducible ER Protein With Ubiquitin Like Domain 1	Protein Coding	400	Pathogenic ⁵
26	LCP1	Lymphocyte Cytosolic Protein 1	Protein Coding	400	Pathogenic ⁵
27	PLK2	Polo Like Kinase 2	Protein Coding	400	Pathogenic ⁵
28	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	400	Pathogenic ⁵
29	MRE11	MRE11 Homolog, Double Strand Break Repair Nuclease	Protein Coding	56.66	Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	26898890 32427313 33134171 (more) 33479248 22006311 14684699
30	RAD51	RAD51 Recombinase	Protein Coding	32.2	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	10807537 24114315
31	MUTYH	MutY DNA Glycosylase	Protein Coding	31.93	Likely pathogenic ⁵ DISEASES inferred ¹⁴
32	ABRAXAS1	Abraxas 1, BRCA1 A Complex Subunit	Protein Coding	31.56	Likely pathogenic ⁵ DISEASES inferred ¹⁴
33	FANCM	FA Complementation Group M	Protein Coding	31.41	Likely pathogenic ⁵ DISEASES inferred ¹⁴
34	RAD51B	RAD51 Paralog B	Protein Coding	31.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26898890
35	RECQL	RecQ Like Helicase	Protein Coding	30.74	Likely pathogenic ⁵ DISEASES inferred ¹⁴
36	NF1	Neurofibromin 1	Protein Coding	30.65	Likely pathogenic ⁵ DISEASES inferred ¹⁴
37	RINT1	RAD50 Interactor 1	Protein Coding	30.54	Likely pathogenic ⁵ DISEASES inferred ¹⁴
38	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	30.36	Likely pathogenic ⁵ DISEASES inferred ¹⁴
39	BLM	BLM RecQ Like Helicase	Protein Coding	29.21	Likely pathogenic ⁵ DISEASES inferred ¹⁴
40	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	29.13	Likely pathogenic ⁵ DISEASES inferred ¹⁴
41	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	25	Likely pathogenic ⁵
42	LOC107988030	MITF-M Promoter Region	Functional Element	25	Likely pathogenic ⁵
43	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	25	Likely pathogenic ⁵
44	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	25	Likely pathogenic ⁵
45	H2AC18	H2A Clustered Histone 18	Protein Coding	8.4	DISEASES inferred ¹⁴ ¹⁴
46	STK11	Serine/Threonine Kinase 11	Protein Coding	6.94	DISEASES inferred ¹⁴
47	PRSS1	Serine Protease 1	Protein Coding	6.39	DISEASES inferred ¹⁴
48	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	6.37	DISEASES inferred ¹⁴
49	FANCC	FA Complementation Group C	Protein Coding	6.34	DISEASES inferred ¹⁴
50	PRSS58	Serine Protease 58	Protein Coding	6.25	DISEASES inferred ¹⁴

Sources

Variations for Hereditary Breast Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Breast Ovarian Cancer Syndrome:

⁵ (show top 50) (show all 17939)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATM	NM_000051.4(ATM):c.4197dup (p.Lys1400fs)	DUP	Pathogenic	989410	rs2082645600	GRCh37: 11:108159789-108159790 GRCh38: 11:108289062-108289063
2	NBN	NM_002485.5(NBN):c.1393A>T (p.Lys465Ter)	SNV	Pathogenic	989414	rs1563530658	GRCh37: 8:90967515-90967515 GRCh38: 8:89955287-89955287
3	BRIP1	NM_032043.3(BRIP1):c.-206_94-576delinsCTAAAAATCCAAAATTAGCTGGGCGTGGTGGCGCA	INDEL	Pathogenic	989417		GRCh37: 17:59937844-59940820 GRCh38: 17:61860483-61863459
4	NBN	NM_002485.5(NBN):c.5G>A (p.Trp2Ter)	SNV	Pathogenic	989423	rs1812244679	GRCh37: 8:90996785-90996785 GRCh38: 8:89984557-89984557
5	RAD50	NM_005732.4(RAD50):c.3097_3098del (p.Glu1033fs)	DEL	Pathogenic	989425	rs1751169439	GRCh37: 5:131951754-131951755 GRCh38: 5:132616062-132616063
6	RAD51C	NM_058216.3(RAD51C):c.664C>T (p.Gln222Ter)	SNV	Pathogenic	989426	rs2048273755	GRCh37: 17:56780649-56780649 GRCh38: 17:58703288-58703288
7	RAD51D, RAD51L3-RFFL	NM_002878.4(RAD51D):c.879del (p.Cys294fs)	DEL	Pathogenic	989430	rs2091532104	GRCh37: 17:33428244-33428244 GRCh38: 17:35101225-35101225
8	BRIP1	NM_032043.3(BRIP1):c.1049del (p.Cys350fs)	DEL	Pathogenic	989432	rs2077989420	GRCh37: 17:59878705-59878705 GRCh38: 17:61801344-61801344
9	BRIP1	NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter)	SNV	Pathogenic	430641	rs876660125	GRCh37: 17:59885860-59885860 GRCh38: 17:61808499-61808499
10	XRCC2	NM_005431.2(XRCC2):c.677dup (p.Tyr226Ter)	DUP	Pathogenic	636233	rs1590129294	GRCh37: 7:152345892-152345893 GRCh38: 7:152648807-152648808
11	HERPUD1	NM_014685.4(HERPUD1):c.584_585del (p.Phe195fs)	DEL	Pathogenic	981834		GRCh37: 16:56973834-56973835 GRCh38: 16:56939922-56939923
12	RIPK1	NM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs)	DEL	Pathogenic	981836		GRCh37: 6:3113359-3113362 GRCh38: 6:3113125-3113128
13	CTNNA2	NM_001282597.3(CTNNA2):c.103-1G>A	SNV	Pathogenic	981838		GRCh37: 2:79971512-79971512 GRCh38: 2:79744386-79744386
14	LCP1	NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter)	SNV	Pathogenic	981804		GRCh37: 13:46721095-46721095 GRCh38: 13:46146960-46146960
15	ATM	NM_000051.4(ATM):c.5653dup (p.Thr1885fs)	DUP	Pathogenic	418036	rs587778077	GRCh37: 11:108175556-108175557 GRCh38: 11:108304829-108304830
16	CHEK2	NC_000022.11:g.(28695874_28696900)_(28699938_28703504)del	DEL	Pathogenic	981983		GRCh37: 22:29091862-29099492 GRCh38:
17	RAD51C	NC_000017.10:g.(56774221_56780556)_(56811704_?)del	DEL	Pathogenic	992235		GRCh37: 17:56774221-56811704 GRCh38:
18	DROSHA	NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter)	SNV	Pathogenic	981828		GRCh37: 5:31508817-31508817 GRCh38: 5:31508710-31508710
19	PLK2	NM_006622.4(PLK2):c.1004dup (p.Leu335fs)	DUP	Pathogenic	981829		GRCh37: 5:57753011-57753012 GRCh38: 5:58457184-58457185
20	CTNNA1	NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs)	INSERT	Pathogenic	981830		GRCh37: 5:138223241-138223242 GRCh38: 5:138887552-138887553
21	ATM, C11orf65	NC_000011.10:g.(?_108364964)_(108365558_?)del	DEL	Pathogenic	1679088		GRCh37: GRCh38: 11:108364964-108365558
22	ATM	NM_000051.4(ATM):c.2638+2T>G	SNV	Pathogenic	1679089		GRCh37: 11:108138071-108138071 GRCh38: 11:108267344-108267344
23	CHEK2	NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)	MICROSAT	Pathogenic	989411	rs2054330803	GRCh37: 22:29130609-29130610 GRCh38: 22:28734621-28734622
24	CHEK2	NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)	DUP	Pathogenic	1684663		GRCh37: 22:29107959-29107960 GRCh38: 22:28711971-28711972
25	BARD1	NM_000465.4(BARD1):c.390_391del (p.Ser131fs)	DEL	Pathogenic	1679026		GRCh37: 2:215646207-215646208 GRCh38: 2:214781483-214781484
26	ATM	NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter)	SNV	Pathogenic	1678889		GRCh37: 11:108172409-108172409 GRCh38: 11:108301682-108301682
27	BRIP1	NM_032043.3(BRIP1):c.1889del (p.Thr630fs)	DEL	Pathogenic	419076	rs1064793626	GRCh37: 17:59857668-59857668 GRCh38: 17:61780307-61780307
28	PTCH1	NM_000264.5(PTCH1):c.454A>G (p.Met152Val)	SNV	Pathogenic	981837		GRCh37: 9:98248097-98248097 GRCh38: 9:95485815-95485815
29	BRCA2	NM_000059.3(BRCA2):c.(?_-1)_67+?del	DEL	Pathogenic	132728		GRCh37: 13:32890470-32890470 GRCh38: 13:32316460-32316527
30	BRCA1	NM_007294.3(BRCA1):c.4358-?_5277+?del	DEL	Pathogenic	89063		GRCh37: 17:41209069-41228631 GRCh38: 17:43057052-43076614
31	BRCA2	NM_000059.4(BRCA2):c.3779del (p.Leu1260fs)	DEL	Pathogenic	96798	rs397507686	GRCh37: 13:32912269-32912269 GRCh38: 13:32338132-32338132
32	BRCA2	NM_000059.4(BRCA2):c.4976_4977insG (p.Tyr1661fs)	INSERT	Pathogenic	96813	rs431825325	GRCh37: 13:32913468-32913469 GRCh38: 13:32339331-32339332
33	BRCA2	NM_000059.4(BRCA2):c.3351_3352dup (p.Leu1118fs)	MICROSAT	Pathogenic	183077	rs730882134	GRCh37: 13:32911839-32911840 GRCh38: 13:32337702-32337703
34	BRCA1	NM_007294.3(BRCA1):c.4987-?_5074+?del	DEL	Pathogenic	89067		GRCh37: 17:41219625-41219712 GRCh38: 17:43067608-43067695
35	BRCA1	NM_007294.3(BRCA1):c.4186-?_4357+?dup172	DUP	Pathogenic	188222		GRCh37: 17:41234421-41234592 GRCh38: 17:43082404-43082575
36	BRCA1	NM_007294.3(BRCA1):c.5278-?_5467+?del	DEL	Pathogenic	188228		GRCh37: 17:41199660-41203134 GRCh38: 17:43047643-43051117
37	BRCA1	NM_007294.4(BRCA1):c.5259del (p.Glu1754fs)	DEL	Pathogenic	37651	rs80357925	GRCh37: 17:41209087-41209087 GRCh38: 17:43057070-43057070
38	BRCA1	NM_007294.3(BRCA1):c.(?_-1)_80+?del	DEL	Pathogenic	218291		GRCh37: 17:41276034-41276114 GRCh38: 17:43124017-43124097
39	BRCA2	NM_000059.3(BRCA2):c.517-?_631+?del	DEL	Pathogenic	188380		GRCh37: 13:32900636-32900750 GRCh38:
40	BRCA1 and overlap with 2 gene(s)	NM_007294.3(BRCA1):c.(?_-1)_134+?del	DEL	Pathogenic	218290		GRCh37: 17:41267743-41276114 GRCh38: 17:43115726-43124097
41	BRCA2	NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs)	INDEL	Pathogenic	208421	rs797044987	GRCh37: 13:32914087-32914088 GRCh38: 13:32339950-32339951
42	BRCA2	NM_000059.4(BRCA2):c.4176del (p.Ala1393fs)	DEL	Pathogenic	216853	rs863224825	GRCh37: 13:32912667-32912667 GRCh38: 13:32338530-32338530
43	BRCA2	NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)	SNV	Pathogenic	216029	rs863224467	GRCh37: 13:32914514-32914514 GRCh38: 13:32340377-32340377
44	BRCA2	NM_000059.4(BRCA2):c.1A>G (p.Met1Val)	SNV	Pathogenic	216026	rs863224464	GRCh37: 13:32890598-32890598 GRCh38: 13:32316461-32316461
45	BRCA1	NM_007294.3(BRCA1):c.4358-?_4484+?del	DEL	Pathogenic	216104		GRCh37: 17:41228505-41228631 GRCh38: 17:43076488-43076614
46	BRCA1	NM_007294.3(BRCA1):c.135-?_5193+?del	DEL	Pathogenic	216101		GRCh37: GRCh38:
47	BRCA1	NM_007294.4(BRCA1):c.490del (p.Thr164fs)	DEL	Pathogenic	216107	rs863224512	GRCh37: 17:41251849-41251849 GRCh38: 17:43099832-43099832
48	BRCA2	NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del	DEL	Pathogenic	216030		GRCh37: 13:32915334-32928997 GRCh38:
49	BRCA1	NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter)	SNV	Pathogenic	216105	rs863224511	GRCh37: 17:41228515-41228515 GRCh38: 17:43076498-43076498
50	BRCA1	NC_000017.11:g.(?_43045678)_(43051117_?)del	DEL	Pathogenic	437839		GRCh37: 17:41197695-41203134 GRCh38: 17:43045678-43051117

Sources

Expression for Hereditary Breast Ovarian Cancer Syndrome

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

Sources

Pathways for Hereditary Breast Ovarian Cancer Syndrome

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

(show top 50) (show all 52)

#	Super pathways	Score	Top Affiliating Genes
1	Gene expression (Transcription) ⁶⁶ Show member pathways Generic Transcription Pathway ⁶⁶ RNA Polymerase II Transcription ⁶⁶	14.09	ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
2	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.87	ATM BARD1 BRCA1 BRCA2 BRIP1 MLH1
3	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.57	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
4	Homology Directed Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex ⁶⁶ DNA Double-Strand Break Repair ⁶⁶ DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Processing of DNA double-strand break ends ⁶⁶	13.29	XRCC2 TP53 RAD51D RAD51C RAD50 PMS2
5	Formation of HIV elongation complex in the absence of HIV Tat ⁶⁶ Show member pathways Abortive elongation of HIV-1 transcript in the absence of Tat ⁶⁶ FGFR2 alternative splicing ⁶⁶ Formation of HIV-1 elongation complex containing HIV-1 Tat ⁶⁶ Formation of RNA Pol II elongation complex ⁶⁶ Formation of the Early Elongation Complex ⁶⁶ Formation of the HIV-1 Early Elongation Complex ⁶⁶ HIV elongation arrest and recovery ⁶⁶ HIV Transcription Elongation ⁶⁶ Interactions of Tat with host cellular proteins ⁶⁶ MicroRNA (miRNA) biogenesis ⁶⁶ miRNA biogenesis ⁷⁴ mRNA Capping ⁶⁶ Pausing and recovery of HIV elongation ⁶⁶ Pausing and recovery of Tat-mediated HIV elongation ⁶⁶ PIWI-interacting RNA (piRNA) biogenesis ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE ⁶⁶ RNA Pol II CTD phosphorylation and interaction with CE during HIV infection ⁶⁶ RNA Polymerase II Pre-transcription Events ⁶⁶ RNA polymerase II transcribes snRNA genes ⁶⁶ RNA Polymerase II Transcription Elongation ⁶⁶ Tat-mediated elongation of the HIV-1 transcript ⁶⁶ Tat-mediated HIV elongation arrest and recovery ⁶⁶ TP53 Regulates Transcription of DNA Repair Genes ⁶⁶ Transcription of the HIV genome ⁶⁶	13.21	ATM BRCA1 MLH1 MSH2 PMS2 RAD51D
6	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	13.08	ATM BARD1 BRCA1 BRIP1 CHEK2 MLH1
7	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	13.05	TP53 RAD50 NBN MSH6 MSH2 MLH1
8	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways Defective Base Excision Repair Associated with NEIL1 ⁶⁶ Defective homologous recombination repair (HRR) due to BRCA2 loss of function ⁶⁶ Diseases of Base Excision Repair ⁶⁶ Diseases of DNA Double-Strand Break Repair ⁶⁶ Diseases of DNA repair ⁶⁶ Fanconi anemia pathway ⁶¹ Fanconi Anemia Pathway ⁶⁶ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Impaired BRCA2 binding to RAD51 ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	13	RAD51D XRCC2 RAD51C RAD50 PMS2 PALB2
9	Cell Cycle Checkpoints ⁶⁶ Show member pathways G2/M Checkpoints ⁶⁶	12.86	ATM BARD1 BRCA1 BRIP1 CHEK2 NBN
10	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶ Reproduction ⁶⁶	12.8	RAD51C RAD50 NBN MLH1 BRCA2 BRCA1
11	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.76	BRCA2 MLH1 MSH2 MSH6 PTEN TP53
12	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.75	TP53 RAD50 NBN MSH6 MSH2 CHEK2
13	DNA repair pathways, full network ⁷⁴ Show member pathways Defective Mismatch Repair Associated With MSH2 ⁶⁶ Defective Mismatch Repair Associated With MSH3 ⁶⁶ Defective Mismatch Repair Associated With MSH6 ⁶⁶ Diseases of Mismatch Repair (MMR) ⁶⁶ Dual Incision in GG-NER ⁶⁶ Homologous recombination ⁷⁴ Mismatch Repair ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) ⁶⁶ Non-homologous end joining ⁷⁴ Nucleotide excision repair ⁷⁴ Nucleotide excision repair in xeroderma pigmentosum ⁷⁴ Nucleotide Excision Repair Pathway ⁶⁴	12.74	ATM BRCA1 BRCA2 RAD51C RAD50 PMS2
14	Malignant pleural mesothelioma ⁷⁴	12.71	TP53 PTEN BRCA1 BARD1 ATM
15	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.57	TP53 RAD50 PTEN NBN BRCA2 BRCA1
16	Base excision repair ⁷⁴ Show member pathways Abasic sugar-phosphate removal via the single-nucleotide replacement pathway ⁶⁶ APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway ⁶⁶ Cell cycle Transition and termination of DNA replication ²² Displacement of DNA glycosylase by APEX1 ⁶⁶ DNA mismatch repair ⁷⁴ Gap-filling DNA repair synthesis and ligation in GG-NER ⁶⁶ Mismatch Repair in Eukaryotes ⁶⁴ PCNA-Dependent Long Patch Base Excision Repair ⁶⁶ POLB-Dependent Long Patch Base Excision Repair ⁶⁶ Resolution of Abasic Sites (AP sites) ⁶⁶ Resolution of AP sites via the multiple-nucleotide patch replacement pathway ⁶⁶ Resolution of AP sites via the single-nucleotide replacement pathway ⁶⁶	12.52	PMS2 MSH6 MSH2 MLH1 BRCA1 BARD1
17	DNA Double Strand Break Response ⁶⁶ Show member pathways Nonhomologous End-Joining (NHEJ) ⁶⁶ Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks ⁶⁶ Sensing of DNA Double Strand Breaks ⁶⁶	12.49	TP53 RAD50 NBN CHEK2 BRCA1 BARD1
18	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.29	TP53 PTEN CHEK2 BRCA1 ATM
19	miRNA regulation of DNA damage response ⁷⁴ Show member pathways DNA damage response ⁷⁴	12.23	TP53 RAD50 NBN CHEK2 BRCA1 ATM
20	Colorectal Cancer Metastasis ⁶⁴	12.21	TP53 MSH6 MSH2 MLH1
21	Direct p53 effectors ⁶¹	12.15	TP53 PTEN PMS2 MSH2 MLH1
22	Integrated breast cancer pathway ⁷⁴	12.13	TP53 RAD50 PTEN MSH6 MSH2 CHEK2
23	DNA IR-damage and cellular response via ATR ⁷⁴	12.12	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
24	DNA IR-double strand breaks and cellular response via ATM ⁷⁴ Show member pathways ATM pathway ⁶¹ DNA damage_DNA-damage-induced responses ²²	12.08	TP53 RAD50 NBN CHEK2 BRCA2 BRCA1
25	Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶ Show member pathways Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function ⁶⁶ Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function ⁶⁶ Defective homologous recombination repair (HRR) due to BRCA1 loss of function ⁶⁶ Defective homologous recombination repair (HRR) due to PALB2 loss of function ⁶⁶ Impaired BRCA2 binding to PALB2 ⁶⁶ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶	12.04	XRCC2 RAD51D RAD51C RAD50 PALB2 NBN
26	ATM Pathway ⁶⁴ Show member pathways ATM signaling pathway ⁷⁴	11.96	TP53 RAD50 NBN CHEK2 BRCA1 ATM
27	DNA damage response (only ATM dependent) ⁷⁴	11.9	TP53 PTEN ATM
28	p53 transcriptional gene network ⁷⁴	11.86	PTEN MSH2 MLH1
29	DNA Damage ³	11.83	TP53 RAD50 NBN MSH6 MSH2 MLH1
30	Retinoblastoma gene in cancer ⁷⁴	11.82	TP53 MSH6 BARD1
31	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.77	TP53 RAD50 NBN MSH6 MSH2 CHEK2
32	Regulation of TP53 Expression and Degradation ⁶⁶ Show member pathways Regulation of TP53 Degradation ⁶⁶ Regulation of TP53 Expression ⁶⁶	11.76	TP53 CHEK2 ATM
33	Pathways affected in adenoid cystic carcinoma ⁷⁴	11.75	TP53 PTEN BRCA1 ATM
34	Regulation of Telomerase ⁶¹	11.71	RAD50 NBN ATM
35	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.68	ATM BARD1 BRCA1 CHEK2 NBN TP53
36	ATM signaling in development and disease ⁷⁴	11.6	ATM CHEK2 NBN RAD50
37	p53 pathway ⁶¹	11.57	ATM CHEK2 TP53
38	Integrated cancer pathway ⁷⁴	11.55	TP53 RAD50 PTEN MSH6 MSH2 CHEK2
39	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶⁴	11.52	TP53 CHEK2 ATM
40	Busulfan Pathway, Pharmacodynamics ⁶⁰ Show member pathways Catalytic cycle of mammalian flavin-containing monooxygenases (FMOs) ⁷⁴ Defective FMO3 causes TMAU ⁶⁶ FMO oxidises nucleophiles ⁶⁶	11.52	MSH2 MLH1 CHEK2
41	BARD1 signaling events ⁶¹	11.48	TP53 RAD50 NBN BRCA1 BARD1 ATM
42	Doxorubicin Pathway, Pharmacokinetics ⁶⁰ Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶⁰	11.46	TP53 MSH2 MLH1
43	miRNA regulation of p53 pathway in prostate cancer ⁷⁴	11.43	TP53 PTEN CHEK2 ATM
44	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.38	PMS2 MSH6 MSH2 MLH1
45	GADD45 Pathway ⁶⁴	11.36	TP53 BRCA1 ATM
46	DNA damage_NHEJ mechanisms of DSBs repair ²²	11.23	RAD50 NBN BRCA1
47	DNA Damage Induced 14-3-3Sigma Signaling ⁶⁴	11.12	TP53 BRCA1 ATM
48	SMC1/SMC3 role in DNA damage - Cornelia de Lange Syndrome ⁷⁴	10.92	RAD50 NBN BRCA1 ATM
49	DDX1 as a regulatory component of the Drosha microprocessor ⁷⁴	10.66	RAD50 NBN ATM
50	PLK3 signaling events ⁶¹	10.59	TP53 CHEK2 ATM

Sources

GO Terms for Hereditary Breast Ovarian Cancer Syndrome

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.78	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
2	nucleoplasm	GO:0005654	10.58	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
3	PML body	GO:0016605	10.13	CHEK2 NBN PTEN TP53
4	chromosome	GO:0005694	10.13	BRCA1 BRCA2 MLH1 MSH2 MSH6 NBN
5	chromosome, telomeric region	GO:0000781	10	ATM BRCA2 CHEK2 MSH2 NBN RAD50
6	microtubule organizing center	GO:0005815	9.97	XRCC2 TP53 RAD51D BRCA2 ATM
7	nuclear ubiquitin ligase complex	GO:0000152	9.93	BRCA2 BRCA1 BARD1
8	BRCA1-A complex	GO:0070531	9.89	BRCA1 BARD1
9	condensed nuclear chromosome	GO:0000794	9.88	RAD50 MLH1 BRCA1
10	mismatch repair complex	GO:0032300	9.88	PMS2 MSH2 MLH1
11	BRCA1-B complex	GO:0070532	9.88	BRIP1 BRCA1 BARD1
12	chromosomal region	GO:0098687	9.87	RAD50 NBN
13	Mre11 complex	GO:0030870	9.86	RAD50 NBN
14	DNA repair complex	GO:1990391	9.86	PALB2 BRCA2 BRCA1 ATM
15	BRCA1-BARD1 complex	GO:0031436	9.85	BARD1 BRCA1
16	Rad51B-Rad51C-Rad51D-XRCC2 complex	GO:0033063	9.85	XRCC2 RAD51D RAD51C
17	MutLalpha complex	GO:0032389	9.81	PMS2 MLH1
18	MutSalpha complex	GO:0032301	9.8	MSH6 MSH2
19	replication fork	GO:0005657	9.65	XRCC2 TP53 RAD51D RAD51C NBN
20	BRCA1-C complex	GO:0070533	9.23	RAD50 NBN BRCA1 BARD1

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

(show top 50) (show all 54)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of cell cycle	GO:0051726	10.32	TP53 RAD51D PTEN NBN MSH2 BRCA1
2	in utero embryonic development	GO:0001701	10.28	MSH2 NBN PALB2 TP53 XRCC2
3	multicellular organism growth	GO:0035264	10.26	XRCC2 TP53 PALB2 ATM
4	telomere maintenance	GO:0000723	10.24	ATM NBN RAD50 RAD51D
5	somitogenesis	GO:0001756	10.23	XRCC2 TP53 PALB2 ATM
6	cellular response to ionizing radiation	GO:0071479	10.22	BARD1 BRCA1 BRCA2 TP53
7	DNA damage checkpoint signaling	GO:0000077	10.21	NBN CHEK2 BRIP1 ATM
8	cell cycle	GO:0007049	10.21	TP53 RAD50 NBN MLH1 CHEK2 BRCA2
9	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	10.2	BRCA2 CHEK2 MSH2 TP53
10	cellular senescence	GO:0090398	10.19	TP53 BRCA2 ATM
11	mismatch repair	GO:0006298	10.19	PMS2 MSH6 MSH2 MLH1
12	nucleotide-excision repair	GO:0006289	10.18	BRCA2 BRIP1 TP53
13	mitotic G2 DNA damage checkpoint signaling	GO:0007095	10.17	NBN BRCA1 ATM
14	intrinsic apoptotic signaling pathway	GO:0097193	10.16	TP53 NBN MSH6
15	meiotic cell cycle	GO:0051321	10.16	XRCC2 RAD50 NBN MLH1
16	determination of adult lifespan	GO:0008340	10.16	TP53 MSH6 MSH2 ATM
17	double-strand break repair via homologous recombination	GO:0000724	10.16	ATM BRCA1 BRCA2 NBN PALB2 RAD51C
18	cellular response to gamma radiation	GO:0071480	10.15	TP53 CHEK2 ATM
19	response to X-ray	GO:0010165	10.15	BRCA2 MSH2 TP53 XRCC2
20	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	GO:0006977	10.14	ATM CHEK2 TP53
21	mitotic G2/M transition checkpoint	GO:0044818	10.14	BARD1 BRCA1 NBN RAD50
22	replicative senescence	GO:0090399	10.13	TP53 CHEK2 ATM
23	response to gamma radiation	GO:0010332	10.13	XRCC2 TP53 CHEK2 BRCA2
24	isotype switching	GO:0045190	10.13	NBN MSH6 MSH2 MLH1
25	histone H2A monoubiquitination	GO:0035518	10.12	BRCA2 BRCA1 BARD1
26	regulation of DNA damage checkpoint	GO:2000001	10.12	BRCA2 BRCA1 BARD1
27	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	10.11	TP53 CHEK2 BRCA2
28	somatic hypermutation of immunoglobulin genes	GO:0016446	10.11	PMS2 MSH6 MSH2 MLH1
29	reciprocal meiotic recombination	GO:0007131	10.11	ATM MLH1 RAD50 RAD51C RAD51D
30	double-strand break repair	GO:0006302	10.11	ATM BRCA1 BRCA2 BRIP1 CHEK2 MSH2
31	telomere maintenance via recombination	GO:0000722	10.1	BRCA2 RAD50 RAD51C RAD51D
32	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	10.1	MSH6 MSH2 MLH1 CHEK2 BRCA2 BRCA1
33	signal transduction in response to DNA damage	GO:0006975	10.09	ATM CHEK2
34	signal transduction in response to DNA damage	GO:0042770	10.09	ATM CHEK2
35	homologous recombination	GO:0035825	10.07	BARD1 BRCA1 BRIP1 NBN RAD50
36	DNA recombination	GO:0006310	10.06	XRCC2 RAD51D RAD51C RAD50 PALB2 BRCA2
37	negative regulation of telomere capping	GO:1904354	10.05	ATM NBN RAD50
38	DNA strand resection involved in replication fork processing	GO:0110025	10.03	RAD50 NBN BRCA1 BARD1
39	cellular response to DNA damage stimulus	GO:0006974	10.02	ATM BARD1 BRCA1 BRCA2 BRIP1 CHEK2
40	histone H2A K63-linked deubiquitination	GO:0070537	10.01	BRCA1 BARD1
41	meiotic telomere clustering	GO:0045141	10.01	MLH1 ATM
42	positive regulation of helicase activity	GO:0051096	10.01	MSH6 MSH2
43	positive regulation of isotype switching to IgA isotypes	GO:0048298	10	MSH2 MLH1
44	telomeric 3' overhang formation	GO:0031860	9.99	NBN RAD50
45	strand invasion	GO:0042148	9.99	RAD51D XRCC2
46	chromosome organization	GO:0051276	9.97	TP53 RAD51D BRCA2
47	regulation of fibroblast apoptotic process	GO:2000269	9.97	XRCC2 TP53
48	somatic recombination of immunoglobulin gene segments	GO:0016447	9.97	MSH6 MSH2 MLH1
49	DNA metabolic process	GO:0006259	9.92	XRCC2 RAD51D RAD51C BRIP1
50	chromosome organization involved in meiotic cell cycle	GO:0070192	9.88	RAD50 ATM

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	10.45	ATM BRIP1 CHEK2 MLH1 MSH2 MSH6
2	DNA binding	GO:0003677	10.32	ATM BRCA1 BRCA2 BRIP1 MSH2 MSH6
3	enzyme binding	GO:0019899	10.29	TP53 PTEN MSH6 MSH2 MLH1 BRCA1
4	nucleotide binding	GO:0000166	10.11	RAD51D RAD51C RAD50 MSH6 MSH2 MLH1
5	single-stranded DNA binding	GO:0003697	10.07	RAD51D PMS2 MSH2 MLH1 BRCA2
6	ATP-dependent activity, acting on DNA	GO:0008094	10	RAD51D MSH6 MSH2
7	damaged DNA binding	GO:0003684	9.91	NBN MSH6 MSH2 BRCA1
8	MutSalpha complex binding	GO:0032407	9.86	PMS2 MLH1
9	MutLalpha complex binding	GO:0032405	9.85	MSH6 MSH2
10	oxidized purine DNA binding	GO:0032357	9.84	MSH6 MSH2
11	single guanine insertion binding	GO:0032142	9.8	MSH2 MSH6
12	guanine/thymine mispair binding	GO:0032137	9.8	MSH6 MSH2 MLH1
13	single thymine insertion binding	GO:0032143	9.78	MSH6 MSH2
14	four-way junction DNA binding	GO:0000400	9.65	MSH2 MSH6 RAD51C RAD51D XRCC2
15	mismatched DNA binding	GO:0030983	9.63	PMS2 MSH6 MSH2 MLH1
16	ATP-dependent DNA damage sensor activity	GO:0140664	9.53	XRCC2 RAD51D RAD51C RAD50 PMS2 MSH6