Breast-Ovarian Cancer, Familial 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BROVCA1 MCID: BRS110 MIFTS: 37	Breast-Ovarian Cancer, Familial 1 (BROVCA1) Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Breast-Ovarian Cancer, Familial 1

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 1:

Name: Breast-Ovarian Cancer, Familial 1 ⁵⁸ ³⁰ ⁶

Breast-Ovarian Cancer, Familial, 1 ⁵⁸ ⁷⁶ ¹³

Brovca1 ⁵⁸ ⁷⁶

Breast-Ovarian Cancer, Familial, Susceptibility to, 1 ⁵⁸

Ovarian Cancer Familial 1 ⁷⁶

Breast Cancer Familial 1 ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant
multifactorial

Miscellaneous:
mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
lifetime risk of breast cancer in mutation carriers is 80 to 90%
lifetime risk of ovarian cancer in mutation carriers is 40 to 50%
increased risk of bilateral breast cancer

HPO:

³³

breast-ovarian cancer, familial 1:
Inheritance autosomal dominant inheritance multifactorial inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 604370

MeSH ⁴⁵ D001943 D010051

MedGen ⁴³ C2676676 C2676677 C2676678

SNOMED-CT via HPO ⁷⁰ 123843001 254838004 263681008

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Summaries for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot : ⁷⁶ Breast-ovarian cancer, familial, 1: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary : Breast-Ovarian Cancer, Familial 1, also known as breast-ovarian cancer, familial, 1, is related to brca1 hereditary breast and ovarian cancer syndrome and pancreatic cancer 4. An important gene associated with Breast-Ovarian Cancer, Familial 1 is BRCA1 (BRCA1 DNA Repair Associated), and among its related pathways/superpathways are DNA Double-Strand Break Repair and TCR Signaling (Qiagen). Affiliated tissues include breast, ovary and prostate, and related phenotypes are breast carcinoma and ovarian neoplasm

Description from OMIM: 604370

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Related Diseases for Breast-Ovarian Cancer, Familial 1

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Breast-Ovarian Cancer, Familial 1	Breast-Ovarian Cancer, Familial 2
Breast-Ovarian Cancer, Familial 3	Breast-Ovarian Cancer, Familial 4

Diseases related to Breast-Ovarian Cancer, Familial 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	brca1 hereditary breast and ovarian cancer syndrome	11.1
2	pancreatic cancer 4	10.0	BRCA1 NBR2
3	nijmegen breakage syndrome	10.0	BRCA1 NBN
4	hereditary site-specific ovarian cancer syndrome	9.9	BRCA1 BRCA2
5	tuberculous salpingitis	9.9	BRCA1 BRCA2
6	nosophobia	9.9	BRCA1 BRCA2
7	cancerophobia	9.9	BRCA1 BRCA2
8	breast reconstruction	9.9	BRCA1 BRCA2
9	fallopian tube adenocarcinoma	9.9	BRCA1 BRCA2
10	synchronous bilateral breast carcinoma	9.9	BRCA1 BRCA2
11	glycogen-rich clear cell breast carcinoma	9.9	BRCA1 BRCA2
12	premature menopause	9.9	BRCA1 BRCA2
13	peritoneum cancer	9.9	BRCA1 BRCA2
14	fallopian tube disease	9.9	BRCA1 BRCA2
15	bilateral breast cancer	9.9	BRCA1 BRCA2
16	primary peritoneal carcinoma	9.9	BRCA1 BRCA2
17	lynch syndrome	9.9	BRCA1 BRCA2
18	ataxia-telangiectasia	9.9	BRCA1 NBN
19	lynch syndrome i	9.9	BRCA1 BRCA2
20	mutagen sensitivity	9.9	BRCA1 BRCA2
21	fanconi anemia, complementation group q	9.9	BRCA1 BRCA2
22	pre-malignant neoplasm	9.9	BRCA1 BRCA2
23	fallopian tube carcinoma	9.9	BRCA1 BRCA2
24	dysgerminoma of ovary	9.9	BRCA1 BRCA2
25	breast carcinoma in situ	9.9	BRCA1 BRCA2
26	ovarian cancer 1	9.9	BRCA1 BRCA2
27	malignant ovarian surface epithelial-stromal neoplasm	9.8	BRCA1 BRCA2
28	ovary epithelial cancer	9.8	BRCA1 BRCA2
29	female breast cancer	9.8	BRCA1 BRCA2
30	sporadic breast cancer	9.8	BRCA1 BRCA2
31	ductal carcinoma in situ	9.8	BRCA1 BRCA2
32	female reproductive system disease	9.8	BRCA1 BRCA2
33	reproductive system disease	9.8	BRCA1 BRCA2
34	gonadal disease	9.8	BRCA1 BRCA2
35	li-fraumeni syndrome	9.8	BRCA1 BRCA2
36	endocrine gland cancer	9.7	BRCA1 BRCA2
37	pancreas adenocarcinoma	9.7	BRCA1 BRCA2
38	ovarian cancer	9.6	BRCA1 BRCA2 NBN
39	hereditary breast ovarian cancer syndrome	9.6	BRCA1 BRCA2 NBN
40	ovarian disease	9.6	BRCA1 BRCA2
41	fanconi anemia, complementation group a	9.6	BRCA1 BRCA2 NBN
42	adamantinoma of long bones	9.5	BRCA1 BRCA2 NBR2
43	breast disease	9.5	BRCA1 BRCA2

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial 1:

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Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 1

Human phenotypes related to Breast-Ovarian Cancer, Familial 1:

³³

#	Description	HPO Frequency	HPO Source Accession
1	breast carcinoma ³³		HP:0003002
2	ovarian neoplasm ³³		HP:0100615

Symptoms via clinical synopsis from OMIM:

⁵⁸

Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM:

604370

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

²⁷ (show all 11)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00151-A-1	9.97	BRCA1
2	Decreased homologous recombination repair frequency	GR00151-A-2	9.97	BRCA1
3	Decreased homologous recombination repair frequency	GR00236-A-1	9.97	BRCA1 BRCA2
4	Decreased homologous recombination repair frequency	GR00236-A-2	9.97	BRCA1 BRCA2
5	Decreased homologous recombination repair frequency	GR00236-A-3	9.97	BRCA1 BRCA2
6	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.33	BRCA1 BRCA2 NBN
7	Decreased viability after ionizing radiation	GR00232-A-2	9.32	BRCA1 BRCA2
8	Decreased viability with cisplatin	GR00101-A-4	9.26	BRCA1 BRCA2
9	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.1	BRCA1 BRCA2 NBN
10	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.1	BRCA1 BRCA2 NBN
11	Synthetic lethal with cisplatin	GR00101-A-1	8.96	BRCA1 BRCA2

MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial 1:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	8.8	BRCA1 BRCA2 NBN

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Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 1

Search Clinical Trials , NIH Clinical Center for Breast-Ovarian Cancer, Familial 1

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Genetic Tests for Breast-Ovarian Cancer, Familial 1

Genetic tests related to Breast-Ovarian Cancer, Familial 1:

#	Genetic test	Affiliating Genes
1	Breast-Ovarian Cancer, Familial 1 ³⁰	BRCA1

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Anatomical Context for Breast-Ovarian Cancer, Familial 1

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 1:

⁴²

Breast, Ovary, Prostate

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Publications for Breast-Ovarian Cancer, Familial 1

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Genes for Breast-Ovarian Cancer, Familial 1

Genes related to Breast-Ovarian Cancer, Familial 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1383.68	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	7894491 20301425 17392385 (more) 20065170 15604628 17508274 19305347 23788249 23918944 24493721 24366376 23188549 25394175 24366402 24432435 25356965 27854360 7894493 7894492 10196379 10827109 9927062 11781691 8644702 11385711 12014998 12955716 8644703 11039575 25472942 29133208 11157798 21946536 23269703 10788334 7795652 7550349 8841191 9450187 9536083 9625172 9764635 12220453 16941470 18762988 22753008 8833256 18940477 8968716 9585617 10441573 8755943 9616287 10417303 7545954 12427738 8942979 16452482 18285836 10417300
2	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	419.07	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301425 17392385 20065170 (more) 15604628 17508274 19305347 23788249 23918944 24493721 24366376 23188549 25394175 24366402 24432435 25356965 27854360
3	NBN	Nibrin	Protein Coding	417.65	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	9590180 9620777 10398434 (more) 10852373 17103455 11279524 12123493 12505263 12833396 16033915 18940477 20301425 17392385 20065170 15604628 17508274 19305347 23788249 23918944 24493721 24366376 23188549 25394175 24366402 24432435 25356965 27854360
4	NBR2	Neighbor Of BRCA1 LncRNA 2	RNA Gene	10.03	GeneCards inferred via : Variants (show sections)

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Variations for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial 1:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	BRCA1	p.Glu10Lys	VAR_020679
2	BRCA1	p.Glu23Lys	VAR_020680
3	BRCA1	p.Ser1187Ile	VAR_020690
4	BRCA1	p.Gln1200His	VAR_020691	rs56214134
5	BRCA1	p.Ser1217Tyr	VAR_020695
6	BRCA1	p.Phe1226Leu	VAR_020696
7	BRCA1	p.Arg1243Gly	VAR_020697

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 1:

⁶ (show top 50) (show all 9470)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRCA1	NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)	single nucleotide variant	Pathogenic	rs138608489	GRCh37	Chromosome 17, 41228521: 41228521
2	BRCA1	NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)	single nucleotide variant	Pathogenic	rs138608489	GRCh38	Chromosome 17, 43076504: 43076504
3	BRCA1	NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)	deletion	Pathogenic	rs730880288	GRCh38	Chromosome 17, 43063893: 43063893
4	BRCA1	NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)	deletion	Pathogenic	rs730880288	GRCh37	Chromosome 17, 41215910: 41215910
5	BRCA1	NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs)	indel	Pathogenic	rs730880287	GRCh38	Chromosome 17, 43071076: 43071077
6	BRCA1	NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs)	indel	Pathogenic	rs730880287	GRCh37	Chromosome 17, 41223093: 41223094
7	BRCA1	NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs)	deletion	Pathogenic	rs730881441	GRCh38	Chromosome 17, 43045789: 43045796
8	BRCA1	NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs)	deletion	Pathogenic	rs730881441	GRCh37	Chromosome 17, 41197806: 41197813
9	BRCA1	NM_007294.3(BRCA1): c.5412C> T (p.Val1804=)	single nucleotide variant	Likely benign	rs730881456	GRCh38	Chromosome 17, 43047698: 43047698
10	BRCA1	NM_007294.3(BRCA1): c.5412C> T (p.Val1804=)	single nucleotide variant	Likely benign	rs730881456	GRCh37	Chromosome 17, 41199715: 41199715
11	BRCA1	NM_007294.3(BRCA1): c.5304C> T (p.Cys1768=)	single nucleotide variant	Likely benign	rs138493864	GRCh38	Chromosome 17, 43051091: 43051091
12	BRCA1	NM_007294.3(BRCA1): c.5304C> T (p.Cys1768=)	single nucleotide variant	Likely benign	rs138493864	GRCh37	Chromosome 17, 41203108: 41203108
13	BRCA1	NM_007294.3(BRCA1): c.5186T> A (p.Leu1729Gln)	single nucleotide variant	Uncertain significance	rs730881496	GRCh38	Chromosome 17, 43063340: 43063340
14	BRCA1	NM_007294.3(BRCA1): c.5186T> A (p.Leu1729Gln)	single nucleotide variant	Uncertain significance	rs730881496	GRCh37	Chromosome 17, 41215357: 41215357
15	BRCA1	NM_007294.3(BRCA1): c.4987-1G> A	single nucleotide variant	Pathogenic	rs730881495	GRCh38	Chromosome 17, 43067696: 43067696
16	BRCA1	NM_007294.3(BRCA1): c.4987-1G> A	single nucleotide variant	Pathogenic	rs730881495	GRCh37	Chromosome 17, 41219713: 41219713
17	BRCA1	NM_007294.3(BRCA1): c.4419T> A (p.Ser1473=)	single nucleotide variant	Likely benign	rs730881455	GRCh38	Chromosome 17, 43076553: 43076553
18	BRCA1	NM_007294.3(BRCA1): c.4419T> A (p.Ser1473=)	single nucleotide variant	Likely benign	rs730881455	GRCh37	Chromosome 17, 41228570: 41228570
19	BRCA1	NM_007294.3(BRCA1): c.3980A> G (p.Gln1327Arg)	single nucleotide variant	Uncertain significance	rs730881444	GRCh38	Chromosome 17, 43091551: 43091551
20	BRCA1	NM_007294.3(BRCA1): c.3980A> G (p.Gln1327Arg)	single nucleotide variant	Uncertain significance	rs730881444	GRCh37	Chromosome 17, 41243568: 41243568
21	BRCA1	NM_007294.3(BRCA1): c.3900C> T (p.Cys1300=)	single nucleotide variant	Likely benign	rs730881454	GRCh38	Chromosome 17, 43091631: 43091631
22	BRCA1	NM_007294.3(BRCA1): c.3900C> T (p.Cys1300=)	single nucleotide variant	Likely benign	rs730881454	GRCh37	Chromosome 17, 41243648: 41243648
23	BRCA1	NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)	deletion	Pathogenic	rs730881440	GRCh38	Chromosome 17, 43091763: 43091764
24	BRCA1	NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)	deletion	Pathogenic	rs730881440	GRCh37	Chromosome 17, 41243780: 41243781
25	BRCA1	NM_007294.3(BRCA1): c.3717T> A (p.Ser1239=)	single nucleotide variant	Likely benign	rs730881453	GRCh38	Chromosome 17, 43091814: 43091814
26	BRCA1	NM_007294.3(BRCA1): c.3717T> A (p.Ser1239=)	single nucleotide variant	Likely benign	rs730881453	GRCh37	Chromosome 17, 41243831: 41243831
27	BRCA1	NM_007294.3(BRCA1): c.3270A> T (p.Gln1090His)	single nucleotide variant	Uncertain significance	rs369925993	GRCh38	Chromosome 17, 43092261: 43092261
28	BRCA1	NM_007294.3(BRCA1): c.3270A> T (p.Gln1090His)	single nucleotide variant	Uncertain significance	rs369925993	GRCh37	Chromosome 17, 41244278: 41244278
29	BRCA1	NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)	deletion	Pathogenic	rs730881462	GRCh38	Chromosome 17, 43092393: 43092402
30	BRCA1	NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)	deletion	Pathogenic	rs730881462	GRCh37	Chromosome 17, 41244410: 41244419
31	BRCA1	NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs)	deletion	Pathogenic	rs730881461	GRCh38	Chromosome 17, 43092586: 43092586
32	BRCA1	NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs)	deletion	Pathogenic	rs730881461	GRCh37	Chromosome 17, 41244603: 41244603
33	BRCA1	NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs)	deletion	Pathogenic	rs730881439	GRCh38	Chromosome 17, 43092593: 43092593
34	BRCA1	NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs)	deletion	Pathogenic	rs730881439	GRCh37	Chromosome 17, 41244610: 41244610
35	BRCA1	NM_007294.3(BRCA1): c.2922A> C (p.Leu974Phe)	single nucleotide variant	Uncertain significance	rs730881487	GRCh38	Chromosome 17, 43092609: 43092609
36	BRCA1	NM_007294.3(BRCA1): c.2922A> C (p.Leu974Phe)	single nucleotide variant	Uncertain significance	rs730881487	GRCh37	Chromosome 17, 41244626: 41244626
37	BRCA1	NM_007294.3(BRCA1): c.2860C> T (p.Leu954=)	single nucleotide variant	Likely benign	rs730881452	GRCh38	Chromosome 17, 43092671: 43092671
38	BRCA1	NM_007294.3(BRCA1): c.2860C> T (p.Leu954=)	single nucleotide variant	Likely benign	rs730881452	GRCh37	Chromosome 17, 41244688: 41244688
39	BRCA1	NM_007294.3(BRCA1): c.2634A> G (p.Ala878=)	single nucleotide variant	Likely benign	rs730881451	GRCh38	Chromosome 17, 43092897: 43092897
40	BRCA1	NM_007294.3(BRCA1): c.2634A> G (p.Ala878=)	single nucleotide variant	Likely benign	rs730881451	GRCh37	Chromosome 17, 41244914: 41244914
41	BRCA1	NM_007294.3(BRCA1): c.2312T> C (p.Leu771Ser)	single nucleotide variant	Uncertain significance	rs730881481	GRCh38	Chromosome 17, 43093219: 43093219
42	BRCA1	NM_007294.3(BRCA1): c.2312T> C (p.Leu771Ser)	single nucleotide variant	Uncertain significance	rs730881481	GRCh37	Chromosome 17, 41245236: 41245236
43	BRCA1	NM_007294.3(BRCA1): c.2090T> C (p.Phe697Ser)	single nucleotide variant	Uncertain significance	rs730881476	GRCh38	Chromosome 17, 43093441: 43093441
44	BRCA1	NM_007294.3(BRCA1): c.2090T> C (p.Phe697Ser)	single nucleotide variant	Uncertain significance	rs730881476	GRCh37	Chromosome 17, 41245458: 41245458
45	BRCA1	NM_007294.3(BRCA1): c.1922T> C (p.Ile641Thr)	single nucleotide variant	Uncertain significance	rs730881474	GRCh38	Chromosome 17, 43093609: 43093609
46	BRCA1	NM_007294.3(BRCA1): c.1922T> C (p.Ile641Thr)	single nucleotide variant	Uncertain significance	rs730881474	GRCh37	Chromosome 17, 41245626: 41245626
47	BRCA1	NM_007294.3(BRCA1): c.1866G> A (p.Ala622=)	single nucleotide variant	Likely benign	rs1800064	GRCh38	Chromosome 17, 43093665: 43093665
48	BRCA1	NM_007294.3(BRCA1): c.1866G> A (p.Ala622=)	single nucleotide variant	Likely benign	rs1800064	GRCh37	Chromosome 17, 41245682: 41245682
49	BRCA1	NM_007294.3(BRCA1): c.1860delT (p.His621Metfs)	deletion	Pathogenic	rs730881459	GRCh38	Chromosome 17, 43093671: 43093671
50	BRCA1	NM_007294.3(BRCA1): c.1860delT (p.His621Metfs)	deletion	Pathogenic	rs730881459	GRCh37	Chromosome 17, 41245688: 41245688

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Expression for Breast-Ovarian Cancer, Familial 1

Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial 1.

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Pathways for Breast-Ovarian Cancer, Familial 1

Pathways related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair ⁶⁷ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁷ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁷ G2/M DNA damage checkpoint ⁶⁷ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁷ HDR through MMEJ (alt-NHEJ) ⁶⁷ Homology Directed Repair ⁶⁷ Non-homologous end joining ¹ Non-homologous end-joining ³⁸ Processing of DNA double-strand break ends ⁶⁷	12.73	BRCA1 BRCA2 NBN
2	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ PDGF Pathway ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	12.45	BRCA1 BRCA2 NBN
3	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.26	BRCA1 BRCA2 NBN
4	DNA Damage ⁴	12.05	BRCA1 BRCA2 NBN
5	Meiosis ⁶⁷ Show member pathways Meiotic recombination ⁶⁷ Meiotic synapsis ⁶⁷	12.01	BRCA1 BRCA2 NBN
6	Homologous DNA Pairing and Strand Exchange ⁶⁷ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁷ HDR through Single Strand Annealing (SSA) ⁶⁷ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁷	11.73	BRCA1 BRCA2 NBN
7	Integrated Breast Cancer Pathway ¹	11.72	BRCA1 BRCA2
8	Fanconi anemia pathway ⁶⁷ ³⁸	11.5	BRCA1 BRCA2
9	ATM Pathway ⁶⁵ Show member pathways ATM Signaling Pathway ¹	11.45	BRCA1 NBN
10	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁷ Show member pathways Homologous recombination ³⁸ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁷ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁷	11.31	BRCA1 BRCA2 NBN
11	DNA damage_ATM/ATR regulation of G1/S checkpoint ²³	11.1	BRCA1 NBN
12	DNA damage_Role of Brca1 and Brca2 in DNA repair ²³	10.93	BRCA1 BRCA2 NBN
13	BARD1 signaling events ¹	10.9	BRCA1 NBN
14	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	10.72	BRCA1 BRCA2 NBN
15	DNA damage_NHEJ mechanisms of DSBs repair ²³	10.7	BRCA1 NBN

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GO Terms for Breast-Ovarian Cancer, Familial 1

Cellular components related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromosome, telomeric region	GO:0000784	8.96	BRCA2 NBN
2	lateral element	GO:0000800	8.62	BRCA1 BRCA2

Biological processes related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	9.65	BRCA1 BRCA2 NBN
2	cellular response to DNA damage stimulus	GO:0006974	9.61	BRCA1 BRCA2 NBN
3	DNA repair	GO:0006281	9.54	BRCA1 BRCA2 NBN
4	DNA replication	GO:0006260	9.51	BRCA1 NBN
5	DNA recombination	GO:0006310	9.49	BRCA1 BRCA2
6	double-strand break repair via nonhomologous end joining	GO:0006303	9.46	BRCA1 NBN
7	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.4	BRCA1 BRCA2
8	DNA double-strand break processing	GO:0000729	9.32	BRCA1 NBN
9	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.26	BRCA1 BRCA2
10	chordate embryonic development	GO:0043009	9.16	BRCA1 BRCA2
11	double-strand break repair via homologous recombination	GO:0000724	9.13	BRCA1 BRCA2 NBN
12	double-strand break repair	GO:0006302	8.8	BRCA1 BRCA2 NBN

Molecular functions related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	damaged DNA binding	GO:0003684	8.62	BRCA1 NBN

Sources

Sources for Breast-Ovarian Cancer, Familial 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Breast-Ovarian Cancer, Familial 1 (BROVCA1)

Aliases & Classifications for Breast-Ovarian Cancer, Familial 1

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Breast-Ovarian Cancer, Familial 1

Related Diseases for Breast-Ovarian Cancer, Familial 1

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Diseases related to Breast-Ovarian Cancer, Familial 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial 1:

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 1

Human phenotypes related to Breast-Ovarian Cancer, Familial 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial 1:

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 1

Genetic Tests for Breast-Ovarian Cancer, Familial 1

Genetic tests related to Breast-Ovarian Cancer, Familial 1:

Anatomical Context for Breast-Ovarian Cancer, Familial 1

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 1:

Publications for Breast-Ovarian Cancer, Familial 1

Genes for Breast-Ovarian Cancer, Familial 1

Genes related to Breast-Ovarian Cancer, Familial 1 (3 elite genes):

Variations for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial 1:

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 1:

Expression for Breast-Ovarian Cancer, Familial 1

Pathways for Breast-Ovarian Cancer, Familial 1

Pathways related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

GO Terms for Breast-Ovarian Cancer, Familial 1

Cellular components related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

Biological processes related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

Molecular functions related to Breast-Ovarian Cancer, Familial 1 according to GeneCards Suite gene sharing:

Sources for Breast-Ovarian Cancer, Familial 1