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

BROVCA1 MCID: BRS110 MIFTS: 38	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 ⁵⁷ ²⁹ ⁶

Breast-Ovarian Cancer, Familial, 1 ⁵⁷ ⁷⁵ ¹³

Brovca1 ⁵⁷ ⁷⁵

Breast-Ovarian Cancer, Familial, Susceptibility to, 1 ⁵⁷

Ovarian Cancer Familial 1 ⁷⁵

Breast Cancer Familial 1 ⁷⁵

Characteristics:

OMIM:

⁵⁷

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:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 604370

MedGen ⁴² C2676676 C2676677 C2676678

MeSH ⁴⁴ D001943 D010051

SNOMED-CT via HPO ⁶⁹ 263681008 254838004 123843001

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Summaries for Breast-Ovarian Cancer, Familial 1

UniProtKB/Swiss-Prot : ⁷⁵ 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 44)

#	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	10.0	BRCA1 BRCA2
5	breast reconstruction	9.9	BRCA1 BRCA2
6	tuberculous salpingitis	9.9	BRCA1 BRCA2
7	nosophobia	9.9	BRCA1 BRCA2
8	cancerophobia	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	lynch syndrome i	9.9	BRCA1 BRCA2
19	ataxia-telangiectasia	9.9	BRCA1 NBN
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	9.9	BRCA1 BRCA2
28	ovary epithelial cancer	9.9	BRCA1 BRCA2
29	female breast cancer	9.9	BRCA1 BRCA2
30	sporadic breast cancer	9.9	BRCA1 BRCA2
31	ductal carcinoma in situ	9.9	BRCA1 BRCA2
32	female reproductive system disease	9.9	BRCA1 BRCA2
33	reproductive system disease	9.9	BRCA1 BRCA2
34	gonadal disease	9.9	BRCA1 BRCA2
35	cowden disease	9.9	BRCA1 BRCA2
36	li-fraumeni syndrome	9.8	BRCA1 BRCA2
37	endocrine gland cancer	9.8	BRCA1 BRCA2
38	pancreas adenocarcinoma	9.8	BRCA1 BRCA2
39	ovarian cancer	9.8	BRCA1 BRCA2 NBN
40	hereditary breast ovarian cancer syndrome	9.8	BRCA1 BRCA2 NBN
41	ovarian disease	9.8	BRCA1 BRCA2
42	fanconi anemia, complementation group a	9.7	BRCA1 BRCA2 NBN
43	adamantinoma of long bones	9.7	BRCA1 BRCA2 NBR2
44	breast disease	9.7	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM:

604370

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

³²

#	Description	HPO Frequency	HPO Source Accession
1	breast carcinoma ³²		HP:0003002
2	ovarian neoplasm ³²		HP:0100615

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

²⁶ (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:

⁴⁶

#	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 ²⁹	BRCA1

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Anatomical Context for Breast-Ovarian Cancer, Familial 1

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

⁴¹

Breast, Ovary, Prostate, Bone, Pancreas

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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	1383.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ 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 23269703 11039575 25472942 29133208 11157798 21946536 10788334 7795652 22753008 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	9.98	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:

⁷⁵

#	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 9443)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NBN	NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)	deletion	Pathogenic	rs587776650	GRCh37	Chromosome 8, 90983442: 90983446
2	NBN	NM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)	deletion	Pathogenic	rs587776650	GRCh38	Chromosome 8, 89971214: 89971218
3	BRCA2	NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs)	deletion	Pathogenic	rs80359351	GRCh37	Chromosome 13, 32911300: 32911303
4	BRCA2	NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs)	deletion	Pathogenic	rs80359351	GRCh38	Chromosome 13, 32337163: 32337166
5	BRCA2	NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)	deletion	Pathogenic	rs80359604	GRCh37	Chromosome 13, 32903606: 32903607
6	BRCA2	NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)	deletion	Pathogenic	rs80359604	GRCh38	Chromosome 13, 32329469: 32329470
7	BRCA2	NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)	single nucleotide variant	Pathogenic	rs80359180	GRCh37	Chromosome 13, 32954222: 32954222
8	BRCA2	NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)	single nucleotide variant	Pathogenic	rs80359180	GRCh38	Chromosome 13, 32380085: 32380085
9	BRCA1	NM_007294.3(BRCA1): c.4327C> G (p.Arg1443Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41293455	GRCh38	Chromosome 17, 43082434: 43082434
10	BRCA1	NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)	duplication	Pathogenic	rs80357906	GRCh37	Chromosome 17, 41209082: 41209082
11	BRCA1	NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)	single nucleotide variant	Pathogenic	rs80357064	GRCh37	Chromosome 17, 41258495: 41258495
12	BRCA1	NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)	single nucleotide variant	Pathogenic	rs80357064	GRCh38	Chromosome 17, 43106478: 43106478
13	BRCA1	NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)	single nucleotide variant	Pathogenic	rs28897672	GRCh37	Chromosome 17, 41258504: 41258504
14	BRCA1	NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)	single nucleotide variant	Pathogenic	rs28897672	GRCh38	Chromosome 17, 43106487: 43106487
15	BRCA1	NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)	deletion	Pathogenic	rs80357783	GRCh37	Chromosome 17, 41276047: 41276048
16	BRCA1	NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)	deletion	Pathogenic	rs80357783	GRCh38	Chromosome 17, 43124030: 43124031
17	BRCA1	BRCA1, 59-BP INS	insertion	Pathogenic
18	BRCA1	NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)	deletion	Pathogenic	rs80359874	GRCh37	Chromosome 17, 41246334: 41246373
19	BRCA1	NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)	deletion	Pathogenic	rs80359874	GRCh38	Chromosome 17, 43094317: 43094356
20	BRCA1	NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)	deletion	Pathogenic	rs80357780	GRCh37	Chromosome 17, 41245251: 41245252
21	BRCA1	NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)	deletion	Pathogenic	rs80357780	GRCh38	Chromosome 17, 43093234: 43093235
22	BRCA1	NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)	deletion	Pathogenic	rs80357971	GRCh37	Chromosome 17, 41244866: 41244867
23	BRCA1	NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)	deletion	Pathogenic	rs80357971	GRCh38	Chromosome 17, 43092849: 43092850
24	BRCA1	NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)	deletion	Pathogenic	rs80357601	GRCh38	Chromosome 17, 43092526: 43092526
25	BRCA1	NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)	deletion	Pathogenic	rs80357601	GRCh37	Chromosome 17, 41244543: 41244543
26	BRCA1	NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn)	single nucleotide variant	Benign	rs4986852	GRCh37	Chromosome 17, 41244429: 41244429
27	BRCA1	NM_007294.3(BRCA1): c.3119G> A (p.Ser1040Asn)	single nucleotide variant	Benign	rs4986852	GRCh38	Chromosome 17, 43092412: 43092412
28	BRCA1	NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)	single nucleotide variant	Pathogenic	rs62625308	GRCh37	Chromosome 17, 41243941: 41243941
29	BRCA1	NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)	single nucleotide variant	Pathogenic	rs62625308	GRCh38	Chromosome 17, 43091924: 43091924
30	BRCA1	NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)	single nucleotide variant	Pathogenic	rs28897686	GRCh37	Chromosome 17, 41243800: 41243800
31	BRCA1	NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)	single nucleotide variant	Pathogenic	rs28897686	GRCh38	Chromosome 17, 43091783: 43091783
32	BRCA1	NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)	deletion	Pathogenic	rs80357868	GRCh37	Chromosome 17, 41243789: 41243792
33	BRCA1	NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)	deletion	Pathogenic	rs80357868	GRCh38	Chromosome 17, 43091772: 43091775
34	BRCA1	NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)	deletion	Pathogenic	rs80357508	GRCh37	Chromosome 17, 41243480: 41243483
35	BRCA1	NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)	deletion	Pathogenic	rs80357508	GRCh38	Chromosome 17, 43091463: 43091466
36	BRCA1	NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)	single nucleotide variant	Pathogenic	rs41293455	GRCh37	Chromosome 17, 41234451: 41234451
37	BRCA1	NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)	single nucleotide variant	Pathogenic	rs41293455	GRCh38	Chromosome 17, 43082434: 43082434
38	BRCA1	NM_007294.3(BRCA1): c.4327C> G (p.Arg1443Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41293455	GRCh37	Chromosome 17, 41234451: 41234451
39	BRCA1	NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)	duplication	Pathogenic	rs80357906	GRCh38	Chromosome 17, 43057065: 43057065
40	BRCA1	NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)	deletion	Pathogenic	rs80359884	GRCh37	Chromosome 17, 41222947: 41222965
41	BRCA1	NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)	deletion	Pathogenic	rs80359884	GRCh38	Chromosome 17, 43070930: 43070948
42	BRCA1	NM_007294.3(BRCA1): c.2521C> T (p.Arg841Trp)	single nucleotide variant	Benign	rs1800709	GRCh37	Chromosome 17, 41245027: 41245027
43	BRCA1	NM_007294.3(BRCA1): c.2521C> T (p.Arg841Trp)	single nucleotide variant	Benign	rs1800709	GRCh38	Chromosome 17, 43093010: 43093010
44	BRCA1	NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)	single nucleotide variant	Pathogenic	rs62625306	GRCh37	Chromosome 17, 41245159: 41245159
45	BRCA1	NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)	single nucleotide variant	Pathogenic	rs62625306	GRCh38	Chromosome 17, 43093142: 43093142
46	BRCA1	NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)	deletion	Pathogenic	rs80357919	GRCh37	Chromosome 17, 41246702: 41246705
47	BRCA1	NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)	deletion	Pathogenic	rs80357919	GRCh38	Chromosome 17, 43094685: 43094688
48	BRCA1	NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)	deletion	Pathogenic	rs80357877	GRCh37	Chromosome 17, 41244057: 41244067
49	BRCA1	NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)	deletion	Pathogenic	rs80357877	GRCh38	Chromosome 17, 43092040: 43092050
50	BRCA1	NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)	deletion	Pathogenic	rs80357662	GRCh37	Chromosome 17, 41245992: 41245992

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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 ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.73	BRCA1 BRCA2 NBN
2	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.45	BRCA1 BRCA2 NBN
3	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.26	BRCA1 BRCA2 NBN
4	DNA Damage ⁴	12.05	BRCA1 BRCA2 NBN
5	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶	12.01	BRCA1 BRCA2 NBN
6	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	11.73	BRCA1 BRCA2 NBN
7	Integrated Breast Cancer Pathway ¹	11.72	BRCA1 BRCA2
8	Fanconi anemia pathway ³⁷ ⁶⁶	11.5	BRCA1 BRCA2
9	ATM Pathway ⁶⁴ Show member pathways ATM Signaling Pathway ¹	11.45	BRCA1 NBN
10	Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) ⁶⁶ Show member pathways Homologous recombination ³⁷ Homologous recombination ¹ Resolution of D-Loop Structures ⁶⁶ Resolution of D-loop Structures through Holliday Junction Intermediates ⁶⁶	11.31	BRCA1 BRCA2 NBN
11	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	11.1	BRCA1 NBN
12	DNA damage_Role of Brca1 and Brca2 in DNA repair ²²	10.93	BRCA1 BRCA2 NBN
13	BARD1 signaling events ¹	10.9	BRCA1 NBN
14	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	10.72	BRCA1 BRCA2 NBN
15	DNA damage_NHEJ mechanisms of DSBs repair ²²	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

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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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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