BROVCA4
MCID: BRS098
MIFTS: 29

Breast-Ovarian Cancer, Familial 4 (BROVCA4)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Breast-Ovarian Cancer, Familial 4

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 4:

Name: Breast-Ovarian Cancer, Familial 4 57 29 6
Breast-Ovarian Cancer, Familial, Susceptibility to, 4 57 13
Brovca4 57 72
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 4 39
Breast-Ovarian Cancer, Familial, 4 72
Ovarian Cancer Familial 4 72
Breast Cancer Familial 4 72

Classifications:



External Ids:

OMIM® 57 614291
OMIM Phenotypic Series 57 PS604370

Summaries for Breast-Ovarian Cancer, Familial 4

UniProtKB/Swiss-Prot : 72 Breast-ovarian cancer, familial, 4: 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 4, also known as breast-ovarian cancer, familial, susceptibility to, 4, is related to hereditary site-specific ovarian cancer syndrome and lynch syndrome i. An important gene associated with Breast-Ovarian Cancer, Familial 4 is RAD51D (RAD51 Paralog D). Affiliated tissues include breast and prostate.

More information from OMIM: 614291 PS604370

Related Diseases for Breast-Ovarian Cancer, Familial 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary site-specific ovarian cancer syndrome 9.6 RAD51L3-RFFL RAD51D
2 lynch syndrome i 9.6 RAD51L3-RFFL RAD51D
3 lynch syndrome 9.5 RAD51L3-RFFL RAD51D
4 hereditary breast ovarian cancer syndrome 9.4 RAD51L3-RFFL RAD51D

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 4

Clinical features from OMIM®:

614291 (Updated 20-May-2021)

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 4

Search Clinical Trials , NIH Clinical Center for Breast-Ovarian Cancer, Familial 4

Genetic Tests for Breast-Ovarian Cancer, Familial 4

Genetic tests related to Breast-Ovarian Cancer, Familial 4:

# Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 4 29 RAD51D

Anatomical Context for Breast-Ovarian Cancer, Familial 4

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 4:

40
Breast, Prostate

Publications for Breast-Ovarian Cancer, Familial 4

Articles related to Breast-Ovarian Cancer, Familial 4:

(show all 39)
# Title Authors PMID Year
1
Germline mutations in RAD51D confer susceptibility to ovarian cancer. 6 57
21822267 2011
2
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2. 6
29020732 2018
3
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. 6
29360550 2018
4
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. 6
29255180 2017
5
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 6
28724667 2017
6
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. 6
28646019 2017
7
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 6
28423363 2017
8
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 6
27978560 2017
9
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 6
28008555 2017
10
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 6
27913932 2017
11
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 6
27616075 2017
12
Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability. 6
28591191 2017
13
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 6
26822949 2016
14
Improving performance of multigene panels for genomic analysis of cancer predisposition. 6
26845104 2016
15
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 6
27433846 2016
16
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
17
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 6
27153395 2016
18
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 6
26976419 2016
19
Inherited Mutations in Women With Ovarian Carcinoma. 6
26720728 2016
20
Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial. 6
27083178 2016
21
Use of 5-Hydroxytryptophan Labeled With Carbon 11 in Social Anxiety Disorder. 6
26720727 2016
22
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 6
26534844 2016
23
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. 6
26261251 2015
24
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 6
25452441 2015
25
Breast cancer in a RAD51D mutation carrier: case report and review of the literature. 6
25445424 2015
26
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 6
25186627 2015
27
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. 6
26057125 2015
28
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. 6
24130102 2014
29
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 6
24240112 2014
30
Germline mutation in the RAD51B gene confers predisposition to breast cancer. 6
24139550 2013
31
Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. 6
23372765 2013
32
Loss of function germline mutations in RAD51D in women with ovarian carcinoma. 6
22986143 2012
33
A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer. 6
22652533 2012
34
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families. 6
22415235 2012
35
Structural and functional characterization of the N-terminal domain of human Rad51D. 6
21111057 2011
36
Functional characterization and identification of mouse Rad51d splice variants. 6
19327148 2009
37
Disparate requirements for the Walker A and B ATPase motifs of human RAD51D in homologous recombination. 6
16717288 2006
38
Domain mapping of the Rad51 paralog protein complexes. 6
14704354 2004
39
Evidence for simultaneous protein interactions between human Rad51 paralogs. 6
10749867 2000

Variations for Breast-Ovarian Cancer, Familial 4

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 4:

6 (show top 50) (show all 645)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.185C>A (p.Ser62Ter) SNV Pathogenic 410551 rs374357106 GRCh37: 17:33445598-33445598
GRCh38: 17:35118579-35118579
2 RAD51D NC_000017.10:g.(?_33430267)_(33446638_?)del Deletion Pathogenic 472584 GRCh37: 17:33430267-33446638
GRCh38:
3 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.243_244insGG (p.Leu82fs) Insertion Pathogenic 652547 rs1597876652 GRCh37: 17:33445539-33445540
GRCh38: 17:35118520-35118521
4 RAD51D NC_000017.11:g.(?_35103244)_(35119613_?)del Deletion Pathogenic 830982 GRCh37: 17:33430263-33446632
GRCh38:
5 RAD51D NC_000017.11:g.(?_35100953)_(35119613_?)del Deletion Pathogenic 831156 GRCh37: 17:33427972-33446632
GRCh38:
6 RAD51D NC_000017.11:g.(?_35106376)_(35107457_?)del Deletion Pathogenic 832402 GRCh37: 17:33433395-33434476
GRCh38:
7 RAD51D NC_000017.11:g.(?_35116966)_(35118629_?)del Deletion Pathogenic 832818 GRCh37: 17:33443985-33445648
GRCh38:
8 RAD51D NC_000017.11:g.(?_35100943)_(35119623_?)del Deletion Pathogenic 833042 GRCh37: 17:33427962-33446642
GRCh38:
9 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.27C>A (p.Cys9Ter) SNV Pathogenic 836489 GRCh37: 17:33446606-33446606
GRCh38: 17:35119587-35119587
10 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.506del (p.Val169fs) Deletion Pathogenic 839675 GRCh37: 17:33433475-33433475
GRCh38: 17:35106456-35106456
11 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.565_568del (p.Val189fs) Deletion Pathogenic 860443 GRCh37: 17:33433413-33433416
GRCh38: 17:35106394-35106397
12 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.612del (p.Val205fs) Deletion Pathogenic 864433 GRCh37: 17:33430528-33430528
GRCh38: 17:35103509-35103509
13 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.109del (p.Glu37fs) Deletion Pathogenic 968765 GRCh37: 17:33446165-33446165
GRCh38: 17:35119146-35119146
14 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.685C>T (p.Gln229Ter) SNV Pathogenic 539851 rs1555567529 GRCh37: 17:33430326-33430326
GRCh38: 17:35103307-35103307
15 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.99del (p.Ala34fs) Deletion Pathogenic 957552 GRCh37: 17:33446175-33446175
GRCh38: 17:35119156-35119156
16 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.19G>T (p.Gly7Ter) SNV Pathogenic 958257 GRCh37: 17:33446614-33446614
GRCh38: 17:35119595-35119595
17 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.410del (p.Asn137fs) Deletion Pathogenic 959345 GRCh37: 17:33428377-33428377
GRCh38: 17:35101358-35101358
18 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.461_462insTT (p.Gln155fs) Insertion Pathogenic 472609 rs1555568296 GRCh37: 17:33434025-33434026
GRCh38: 17:35107006-35107007
19 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.141C>A (p.Tyr47Ter) SNV Pathogenic 581385 rs771077929 GRCh37: 17:33446133-33446133
GRCh38: 17:35119114-35119114
20 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.144+557_144+576del Deletion Pathogenic 539848 rs1555570266 GRCh37: 17:33445554-33445573
GRCh38: 17:35118535-35118554
21 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.144+495del Deletion Pathogenic 539860 rs1555570301 GRCh37: 17:33445635-33445635
GRCh38: 17:35118616-35118616
22 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35118491)_(35118629_?)del Deletion Pathogenic 583433 GRCh37: 17:33445510-33445648
GRCh38: 17:35118491-35118629
23 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35118495)_(35119619_?)del Deletion Pathogenic 583961 GRCh37: 17:33445514-33446638
GRCh38: 17:35118495-35119619
24 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35103244)_(35119623_?)del Deletion Pathogenic 584264 GRCh37: 17:33430263-33446642
GRCh38: 17:35103244-35119623
25 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35118491)_(35119623_?)del Deletion Pathogenic 584274 GRCh37: 17:33445510-33446642
GRCh38: 17:35118491-35119623
26 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35100943)_(35103554_?)del Deletion Pathogenic 663404 GRCh37: 17:33427962-33430573
GRCh38: 17:35100943-35103554
27 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35099792)_(35103544_?)del Deletion Pathogenic 417528 GRCh37: 17:33426811-33430563
GRCh38: 17:35099792-35103544
28 RAD51D , RAD51L3-RFFL NC_000017.11:g.(?_35106380)_(35107453_?)del Deletion Pathogenic 472585 GRCh37: 17:33433399-33434472
GRCh38: 17:35106380-35107453
29 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.216C>A (p.Tyr72Ter) SNV Pathogenic 480544 rs148690585 GRCh37: 17:33445567-33445567
GRCh38: 17:35118548-35118548
30 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.351T>A (p.Cys117Ter) SNV Pathogenic 539859 rs1555568382 GRCh37: 17:33434136-33434136
GRCh38: 17:35107117-35107117
31 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.463C>T (p.Gln155Ter) SNV Pathogenic 484775 rs1555568293 GRCh37: 17:33434024-33434024
GRCh38: 17:35107005-35107005
32 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.140_141insAA (p.Tyr47Ter) Insertion Pathogenic 142811 rs587782736 GRCh37: 17:33446133-33446134
GRCh38: 17:35119114-35119115
33 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.210_229dup (p.Thr77delinsIleSerThrArgAsnTer) Duplication Pathogenic 480546 rs1555570266 GRCh37: 17:33445553-33445554
GRCh38: 17:35118534-35118535
34 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.547C>T (p.Gln183Ter) SNV Pathogenic 142754 rs587782695 GRCh37: 17:33433434-33433434
GRCh38: 17:35106415-35106415
35 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.343C>T (p.Gln115Ter) SNV Pathogenic 472599 rs1555568473 GRCh37: 17:33434387-33434387
GRCh38: 17:35107368-35107368
36 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.330dup (p.Ser111Ter) Duplication Pathogenic 185760 rs786202434 GRCh37: 17:33434399-33434400
GRCh38: 17:35107380-35107381
37 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.313_319delinsTGAGGTT (p.Gly105_Gln107delinsTer) Indel Pathogenic 141143 rs587781527 GRCh37: 17:33430485-33430491
GRCh38: 17:35103466-35103472
38 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.757C>T (p.Arg253Ter) SNV Pathogenic 30288 rs137886232 GRCh37: 17:33428366-33428366
GRCh38: 17:35101347-35101347
39 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.326dup (p.Gly110fs) Duplication Pathogenic 182849 rs730882119 GRCh37: 17:33434403-33434404
GRCh38: 17:35107384-35107385
40 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) SNV Pathogenic 410552 rs750219200 GRCh37: 17:33428320-33428320
GRCh38: 17:35101301-35101301
41 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.131_144+24del Deletion Pathogenic 422338 rs1064795716 GRCh37: 17:33446106-33446143
GRCh38: 17:35119087-35119124
42 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.478C>T (p.Gln160Ter) SNV Pathogenic 384322 rs1057521922 GRCh37: 17:33434009-33434009
GRCh38: 17:35106990-35106990
43 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.145-630_145-627del Deletion Pathogenic 229953 rs876658297 GRCh37: 17:33434127-33434130
GRCh38: 17:35107108-35107111
44 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.576+1G>A SNV Pathogenic 371839 rs781161543 GRCh37: 17:33433404-33433404
GRCh38: 17:35106385-35106385
45 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.141C>G (p.Tyr47Ter) SNV Pathogenic 641610 rs771077929 GRCh37: 17:33446133-33446133
GRCh38: 17:35119114-35119114
46 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) SNV Pathogenic 30285 rs387906843 GRCh37: 17:33433425-33433425
GRCh38: 17:35106406-35106406
47 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.748del (p.His250fs) Deletion Pathogenic 127894 rs587780105 GRCh37: 17:33428375-33428375
GRCh38: 17:35101356-35101356
48 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.694C>T (p.Arg232Ter) SNV Pathogenic 127893 rs587780104 GRCh37: 17:33430317-33430317
GRCh38: 17:35103298-35103298
49 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.363del (p.Ala122fs) Deletion Pathogenic/Likely pathogenic 182840 rs730881935 GRCh37: 17:33434124-33434124
GRCh38: 17:35107105-35107105
50 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.270_271dup (p.Lys91fs) Duplication Pathogenic/Likely pathogenic 239394 rs753862052 GRCh37: 17:33434458-33434459
GRCh38: 17:35107439-35107440

Expression for Breast-Ovarian Cancer, Familial 4

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Pathways for Breast-Ovarian Cancer, Familial 4

GO Terms for Breast-Ovarian Cancer, Familial 4

Sources for Breast-Ovarian Cancer, Familial 4

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