BROVCA1
MCID: BRS110
MIFTS: 57

Breast-Ovarian Cancer, Familial 1 (BROVCA1)

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

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 72 13
Brovca1 57 20 72
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 1 39
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 57
Brca1 Hereditary Breast and Ovarian Cancer Syndrome 20
Familial Susceptibility to Breast-Ovarian Cancer 1 20
Ovarian Cancer Familial 1 72
Breast Cancer Familial 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
breast-ovarian cancer, familial 1:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM® 57 604370
OMIM Phenotypic Series 57 PS604370
SNOMED-CT via HPO 68 123843001 254838004 263681008

Summaries for Breast-Ovarian Cancer, Familial 1

GARD : 20 BRCA1 hereditary breast and ovarian cancer syndrome ( BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes ( mutations ) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.

MalaCards based summary : Breast-Ovarian Cancer, Familial 1, also known as breast-ovarian cancer, familial, 1, is related to pancreatic cancer and fallopian tube clear cell adenocarcinoma. 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 Pathways in cancer. The drugs Paclitaxel and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and pancreas, and related phenotypes are breast carcinoma and ovarian neoplasm

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 604370 PS604370

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 top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 11.4
2 fallopian tube clear cell adenocarcinoma 10.3 BRCA2 BRCA1
3 ovary transitional cell carcinoma 10.3 BRCA2 BRCA1
4 basaloid lung carcinoma 10.3 BRCA2 BRCA1
5 cancerophobia 10.3 BRCA2 BRCA1
6 nosophobia 10.3 BRCA2 BRCA1
7 tetraploidy 10.3 BRCA2 BRCA1
8 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.3 BRCA2 BRCA1
9 ruvalcaba syndrome 10.3 BRCA2 BRCA1
10 breast-ovarian cancer, familial 2 10.3 BRCA2 BRCA1
11 intracystic papillary adenoma 10.3 BRCA2 BRCA1
12 endosalpingiosis 10.3 BRCA2 BRCA1
13 mutagen sensitivity 10.3 BRCA2 BRCA1
14 primary peritoneal carcinoma 10.3 BRCA2 BRCA1
15 synchronous bilateral breast carcinoma 10.3 BRCA2 BRCA1
16 hypertrophy of breast 10.3 BRCA2 BRCA1
17 bap1 tumor predisposition syndrome 10.2 PALB2 BRCA2
18 tracheoesophageal fistula with or without esophageal atresia 10.2 PALB2 BRCA2
19 papillary serous adenocarcinoma 10.2 BRCA2 BRCA1
20 hereditary site-specific ovarian cancer syndrome 10.2 RAD51C BRCA2 BRCA1
21 cerebellar disease 10.1 NBN BRCA2 BRCA1
22 female breast cancer 10.1 PALB2 BRCA2 BRCA1
23 lobular neoplasia 10.1 BRCA2 BRCA1
24 fanconi anemia, complementation group r 10.1 RAD51C PALB2
25 fanconi anemia, complementation group o 10.1 RAD51C PALB2
26 b-lymphoblastic leukemia/lymphoma with t 10.1 PALB2 MSH6
27 fanconi anemia, complementation group q 10.1 RAD51C PALB2
28 fallopian tube endometrioid adenocarcinoma 10.1 RAD51C MSH6
29 thoracic benign neoplasm 10.1 BRCA2 BRCA1
30 pituitary carcinoma 10.1 MSH6 BRCA2
31 fanconi anemia, complementation group p 10.1 RAD51C PALB2
32 fanconi anemia, complementation group n 10.1 RAD51C PALB2 BRCA2
33 b-lymphoblastic leukemia/lymphoma 10.0 MSH6 BRCA2 BRCA1
34 seckel syndrome 10.0 NBN BRCA2 BRCA1
35 breast benign neoplasm 10.0 BRCA2 BRCA1
36 jejunal adenocarcinoma 10.0 MSH6 MLH1
37 ataxia-telangiectasia 10.0 NBN BRCA2 BRCA1
38 werner syndrome 9.9 NBN MLH1 BRCA1
39 endometrioid ovary carcinoma 9.9 MSH6 MLH1
40 familial ovarian cancer 9.9 RAD51C PALB2 BRCA2 BRCA1
41 peritoneum cancer 9.9 RAD51C PALB2 BRCA2 BRCA1
42 fallopian tube disease 9.9 RAD51C PALB2 BRCA2 BRCA1
43 fanconi anemia, complementation group d1 9.9 RAD51C PALB2 BRCA2 BRCA1
44 fanconi anemia, complementation group j 9.9 RAD51C PALB2 BRCA2 BRCA1
45 fallopian tube carcinoma 9.9 RAD51C PALB2 BRCA2 BRCA1
46 premature menopause 9.9 RAD51C NBN BRCA2 BRCA1
47 silent pituitary adenoma 9.9 MSH6 MSH2
48 esophagus sarcoma 9.9 MSH6 MSH2
49 cervical adenosarcoma 9.8 MSH6 MSH2
50 t-cell non-hodgkin lymphoma 9.8 MSH6 MSH2

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



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:

31
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 31 HP:0003002
2 ovarian neoplasm 31 HP:0100615

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM®:

604370 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.9 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.9 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.9 BRCA1 BRCA2 PALB2
4 Decreased homologous recombination repair frequency GR00236-A-2 9.9 BRCA1 BRCA2 PALB2
5 Decreased homologous recombination repair frequency GR00236-A-3 9.9 BRCA1 BRCA2 PALB2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 BRCA1 BRCA2 MLH1 NBN PALB2
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 BRCA1 BRCA2 MLH1 PALB2
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.78 BRCA1 BRCA2 MLH1 NBN MSH2 MSH6
9 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 9.17 BRCA1 BRCA2 MLH1 MSH2 MSH6 NBN

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 1

Drugs for Breast-Ovarian Cancer, Familial 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
2
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
3
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
4
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
5
Liposomal doxorubicin Phase 2 31703
6 Antimitotic Agents Phase 2
7 Antirheumatic Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Immunosuppressive Agents Phase 2
10 Albumin-Bound Paclitaxel Phase 2
11 Tubulin Modulators Phase 2
12 Anti-Bacterial Agents Phase 2
13 Alkylating Agents Phase 2
14 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Neoadjuvant Carboplatin in Triple Negative Breast Cancer - A Prospective Phase II Study (NACATRINE Trial). Recruiting NCT02978495 Phase 2 Doxorubicin;Carboplatin;Paclitaxel;Cyclophosphamide

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

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

Anatomical Context for Breast-Ovarian Cancer, Familial 1

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

40
Breast, Prostate, Pancreas, Uterus, Cervix, Ovary, Colon

Publications for Breast-Ovarian Cancer, Familial 1

Articles related to Breast-Ovarian Cancer, Familial 1:

(show top 50) (show all 566)
# Title Authors PMID Year
1
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 6 57
19241424 2009
2
Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. 6 57
17307836 2007
3
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 57 6
12955716 2003
4
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 6 57
12181777 2002
5
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 57 6
11179017 2001
6
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. 6 57
10788334 2000
7
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. 6 57
9792861 1998
8
Molecular evidence for multifocal papillary serous carcinoma of the peritoneum in patients with germline BRCA1 mutations. 57 6
9625172 1998
9
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 6 57
9145677 1997
10
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. 6 57
8644702 1996
11
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. 6 57
8533757 1995
12
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. 57 6
7550349 1995
13
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. 57 6
7611277 1995
14
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 6 57
7894491 1994
15
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 57 6
7894493 1994
16
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 6 57
7545954 1994
17
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 6
31131967 2019
18
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. 6
30962250 2019
19
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 6
30765603 2019
20
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance. 6
30832263 2019
21
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil. 6
30606148 2019
22
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 6
30257991 2019
23
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val). 6
30105462 2018
24
Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. 57
30110579 2018
25
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1. 6
29712865 2018
26
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. 6
29133208 2018
27
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 6
28528518 2018
28
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. 6
28490613 2018
29
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 6
28111427 2017
30
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. 6
28294317 2017
31
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients. 6
28680148 2017
32
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 6
28176296 2017
33
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. 6
28024868 2017
34
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 6
27616075 2017
35
Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes. 6
27167672 2017
36
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. 6
27741520 2016
37
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients. 6
27328445 2016
38
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. 6
27914478 2016
39
Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon? 6
27533489 2016
40
Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study. 6
27756336 2016
41
BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population. 6
26833046 2016
42
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. 6
27083775 2016
43
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
44
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 6
27433846 2016
45
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. 6
27062684 2016
46
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 6
26913838 2016
47
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. 6
26350514 2016
48
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 6
27272900 2016
49
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 6
26911350 2016
50
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 6
26786923 2016

Variations for Breast-Ovarian Cancer, Familial 1

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

6 (show top 50) (show all 8362)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCA1 NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter) SNV Pathogenic 495221 rs1555589094 GRCh37: 17:41244839-41244839
GRCh38: 17:43092822-43092822
2 BRCA1 NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs) Deletion Pathogenic 54910 rs397509080 GRCh37: 17:41244007-41244008
GRCh38: 17:43091990-43091991
3 BRCA1 NM_007294.4(BRCA1):c.2798_2799del (p.Gly933fs) Deletion Pathogenic 54682 rs397509011 GRCh37: 17:41244749-41244750
GRCh38: 17:43092732-43092733
4 BRCA1 NM_007294.4(BRCA1):c.5369_5385del (p.Ser1790fs) Deletion Pathogenic 55554 rs397509272 GRCh37: 17:41201159-41201175
GRCh38: 17:43049142-43049158
5 BRCA1 NM_007294.4(BRCA1):c.5179_5192del (p.Lys1727fs) Deletion Pathogenic 55445 rs397509234 GRCh37: 17:41215351-41215364
GRCh38: 17:43063334-43063347
6 BRCA1 NM_007294.4(BRCA1):c.1963dup (p.Tyr655fs) Duplication Pathogenic 54420 rs397508924 GRCh37: 17:41245584-41245585
GRCh38: 17:43093567-43093568
7 BRCA1 NM_007294.4(BRCA1):c.2872_2876del (p.Phe958fs) Deletion Pathogenic 54707 rs397509021 GRCh37: 17:41244672-41244676
GRCh38: 17:43092655-43092659
8 BRCA1 NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs) Deletion Pathogenic 54914 rs730882057 GRCh37: 17:41243998-41243999
GRCh38: 17:43091981-43091982
9 BRCA1 NM_007294.4(BRCA1):c.3468del (p.Asp1156fs) Deletion Pathogenic 54892 rs397509070 GRCh37: 17:41244080-41244080
GRCh38: 17:43092063-43092063
10 BRCA1 NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs) Deletion Pathogenic 54857 rs397509060 GRCh37: 17:41244185-41244189
GRCh38: 17:43092168-43092172
11 BRCA1 NM_007294.4(BRCA1):c.4167del (p.Ser1389fs) Deletion Pathogenic 55122 rs397509145 GRCh37: 17:41242979-41242979
GRCh38: 17:43090962-43090962
12 BRCA1 NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs) Deletion Pathogenic 54441 rs397508931 GRCh37: 17:41245519-41245520
GRCh38: 17:43093502-43093503
13 BRCA1 NM_007294.4(BRCA1):c.2659_2660insA (p.Ala887fs) Insertion Pathogenic 54630 rs397508991 GRCh37: 17:41244888-41244889
GRCh38: 17:43092871-43092872
14 BRCA1 NM_007294.4(BRCA1):c.433_436CCTT[1] (p.Ser146fs) Microsatellite Pathogenic 55186 rs397509168 GRCh37: 17:41256140-41256143
GRCh38: 17:43104123-43104126
15 BRCA1 NM_007294.4(BRCA1):c.2551del (p.Glu851fs) Deletion Pathogenic 54596 rs397508977 GRCh37: 17:41244997-41244997
GRCh38: 17:43092980-43092980
16 BRCA1 NM_007294.4(BRCA1):c.4534_4535del (p.Ser1512fs) Deletion Pathogenic 55225 rs397509183 GRCh37: 17:41226488-41226489
GRCh38: 17:43074471-43074472
17 BRCA1 NM_007294.4(BRCA1):c.1817del (p.Pro606fs) Deletion Pathogenic 54357 rs397508910 GRCh37: 17:41245731-41245731
GRCh38: 17:43093714-43093714
18 BRCA1 NM_007294.4(BRCA1):c.4910del (p.Pro1637fs) Deletion Pathogenic 55315 rs397509204 GRCh37: 17:41223021-41223021
GRCh38: 17:43071004-43071004
19 BRCA1 NM_007294.4(BRCA1):c.1660G>T (p.Glu554Ter) SNV Pathogenic 54320 rs397508894 GRCh37: 17:41245888-41245888
GRCh38: 17:43093871-43093871
20 BRCA1 NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs) Duplication Pathogenic 54944 rs80357571 GRCh37: 17:41243921-41243922
GRCh38: 17:43091904-43091905
21 BRCA1 NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter) Duplication Pathogenic 54598 rs397508978 GRCh37: 17:41244991-41244992
GRCh38: 17:43092974-43092975
22 BRCA1 NM_007294.4(BRCA1):c.2048del (p.Lys683fs) Deletion Pathogenic 54446 rs397508933 GRCh37: 17:41245500-41245500
GRCh38: 17:43093483-43093483
23 BRCA1 NM_007294.4(BRCA1):c.2929_2930dup (p.Tyr978fs) Duplication Pathogenic 54723 rs397509025 GRCh37: 17:41244617-41244618
GRCh38: 17:43092600-43092601
24 BRCA1 NM_007294.4(BRCA1):c.2166del (p.Asn723fs) Deletion Pathogenic 54480 rs397508943 GRCh37: 17:41245382-41245382
GRCh38: 17:43093365-43093365
25 BRCA1 NM_007294.4(BRCA1):c.488del (p.Arg163fs) Deletion Pathogenic 55308 rs397509202 GRCh37: 17:41251851-41251851
GRCh38: 17:43099834-43099834
26 BRCA1 NM_007294.4(BRCA1):c.2967del (p.Phe989fs) Deletion Pathogenic 54733 rs397509028 GRCh37: 17:41244581-41244581
GRCh38: 17:43092564-43092564
27 BRCA1 NM_007294.4(BRCA1):c.62dup (p.Glu23fs) Duplication Pathogenic 55651 rs397509303 GRCh37: 17:41276051-41276052
GRCh38: 17:43124034-43124035
28 BRCA1 NM_007294.4(BRCA1):c.695dup (p.Asp232fs) Duplication Pathogenic 433694 rs1555593302 GRCh37: 17:41246852-41246853
GRCh38: 17:43094835-43094836
29 BRCA1 NM_007294.4(BRCA1):c.64_65del (p.Leu22fs) Deletion Pathogenic 55653 rs397509304 GRCh37: 17:41276049-41276050
GRCh38: 17:43124032-43124033
30 BRCA1 NM_007294.4(BRCA1):c.65T>A (p.Leu22Ter) SNV Pathogenic 252428 rs80357438 GRCh37: 17:41276049-41276049
GRCh38: 17:43124032-43124032
31 BRCA1 NM_007294.4(BRCA1):c.3164del (p.Gly1055fs) Deletion Pathogenic 54785 rs397509043 GRCh37: 17:41244384-41244384
GRCh38: 17:43092367-43092367
32 BRCA1 NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter) SNV Pathogenic 55248 rs80357180 GRCh37: 17:41251876-41251876
GRCh38: 17:43099859-43099859
33 BRCA1 NM_007294.4(BRCA1):c.2848dup (p.Ser950fs) Duplication Pathogenic 54699 rs397509018 GRCh37: 17:41244699-41244700
GRCh38: 17:43092682-43092683
34 BRCA1 NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs) Duplication Pathogenic 54977 rs397509097 GRCh37: 17:41243831-41243832
GRCh38: 17:43091814-43091815
35 BRCA1 NM_007294.4(BRCA1):c.1040del (p.Leu347fs) Deletion Pathogenic 54106 rs397508828 GRCh37: 17:41246508-41246508
GRCh38: 17:43094491-43094491
36 BRCA1 NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer) Deletion Pathogenic 54904 rs397509078 GRCh37: 17:41244039-41244043
GRCh38: 17:43092022-43092026
37 BRCA1 NM_007294.4(BRCA1):c.3450del (p.Asp1151fs) Deletion Pathogenic 54888 rs397509068 GRCh37: 17:41244098-41244098
GRCh38: 17:43092081-43092081
38 BRCA1 NM_007294.4(BRCA1):c.3876del (p.Ala1293fs) Deletion Pathogenic 55034 rs397509115 GRCh37: 17:41243672-41243672
GRCh38: 17:43091655-43091655
39 BRCA1 NM_007294.4(BRCA1):c.2012_2013dup (p.Lys672fs) Duplication Pathogenic 54434 rs397508928 GRCh37: 17:41245534-41245535
GRCh38: 17:43093517-43093518
40 BRCA1 NM_007294.4(BRCA1):c.2679_2680del (p.Lys894fs) Deletion Pathogenic 54641 rs397508995 GRCh37: 17:41244868-41244869
GRCh38: 17:43092851-43092852
41 BRCA1 NM_007294.4(BRCA1):c.4836dup (p.Ser1613fs) Duplication Pathogenic 55298 rs397509198 GRCh37: 17:41223094-41223095
GRCh38: 17:43071077-43071078
42 BRCA1 NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer) Deletion Pathogenic 55102 rs397509138 GRCh37: 17:41243454-41243454
GRCh38: 17:43091437-43091437
43 BRCA1 NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter) SNV Pathogenic 55000 rs397509105 GRCh37: 17:41243776-41243776
GRCh38: 17:43091759-43091759
44 BRCA1 NM_007294.4(BRCA1):c.2671del (p.Ser891fs) Deletion Pathogenic 54637 rs397508993 GRCh37: 17:41244877-41244877
GRCh38: 17:43092860-43092860
45 BRCA1 NM_007294.4(BRCA1):c.4452_4455del (p.Thr1485fs) Deletion Pathogenic 55202 rs397509178 GRCh37: 17:41228534-41228537
GRCh38: 17:43076517-43076520
46 BRCA1 NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter) SNV Pathogenic 55106 rs397509140 GRCh37: 17:41243030-41243030
GRCh38: 17:43091013-43091013
47 BRCA1 NM_007294.4(BRCA1):c.536del (p.Tyr179fs) Deletion Pathogenic 55555 rs397509273 GRCh37: 17:41251803-41251803
GRCh38: 17:43099786-43099786
48 BRCA1 NM_007294.4(BRCA1):c.2812_2813del (p.Pro938fs) Deletion Pathogenic 54686 rs730882056 GRCh37: 17:41244735-41244736
GRCh38: 17:43092718-43092719
49 BRCA1 NM_007294.4(BRCA1):c.8T>G (p.Leu3Ter) SNV Pathogenic 55746 rs397509332 GRCh37: 17:41276106-41276106
GRCh38: 17:43124089-43124089
50 BRCA1 NM_007294.3(BRCA1):c.190_193del (p.Cys64fs) Deletion Pathogenic 54395 rs397508917 GRCh37: 17:41258492-41258495
GRCh38: 17:43106475-43106478

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

72
# 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

Expression for Breast-Ovarian Cancer, Familial 1

Search GEO for disease gene expression data 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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 RAD51C PALB2 NBN MSH6 MSH2 MLH1
2 12.61 MSH6 MSH2 MLH1 BRCA2
3
Show member pathways
12.56 MSH6 MSH2 MLH1 BRCA2
4
Show member pathways
12.53 NBN MSH6 MSH2 BRCA2 BRCA1
5
Show member pathways
12.47 NBN MSH6 MSH2 MLH1 BRCA2 BRCA1
6
Show member pathways
12.32 RAD51C NBN MLH1 BRCA2 BRCA1
7 12.1 NBN MSH6 MSH2 MLH1 BRCA2 BRCA1
8
Show member pathways
12.06 RAD51C PALB2 NBN BRCA2 BRCA1
9 11.98 MSH6 MSH2 BRCA2 BRCA1
10 11.95 MSH6 MSH2 MLH1
11
Show member pathways
11.9 RAD51C PALB2 NBN BRCA2 BRCA1
12
Show member pathways
11.69 MSH6 MSH2 MLH1
13 11.6 MSH6 MSH2 MLH1 BRCA1
14 11.35 MSH6 MSH2 BRCA1
15 11.32 RAD51C PALB2 MLH1 BRCA2 BRCA1
16 11.12 MSH6 MSH2 MLH1
17 11.04 NBN BRCA1
18
Show member pathways
10.94 NBN MSH6 MSH2 BRCA2 BRCA1
19 10.93 NBN BRCA1

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 nucleoplasm GO:0005654 9.91 RAD51C PALB2 NBN MSH6 MSH2 MLH1
2 chromosome, telomeric region GO:0000781 9.54 NBN MSH2 BRCA2
3 condensed chromosome GO:0000793 9.43 MLH1 BRCA1
4 replication fork GO:0005657 9.4 RAD51C NBN
5 lateral element GO:0000800 9.32 BRCA2 BRCA1
6 chromosome GO:0005694 9.17 RAD51C NBN MSH6 MSH2 MLH1 BRCA2
7 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
8 mismatch repair complex GO:0032300 9.13 MSH6 MSH2 MLH1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.8 NBN BRCA2 BRAT1
2 DNA recombination GO:0006310 9.77 RAD51C PALB2 MSH2 BRCA2 BRCA1
3 double-strand break repair via nonhomologous end joining GO:0006303 9.73 NBN MLH1 BRCA1
4 double-strand break repair GO:0006302 9.73 NBN MSH2 BRCA2 BRCA1
5 double-strand break repair via homologous recombination GO:0000724 9.72 RAD51C PALB2 NBN BRCA2 BRCA1
6 mismatch repair GO:0006298 9.67 MSH6 MSH2 MLH1
7 reciprocal meiotic recombination GO:0007131 9.65 RAD51C MLH1
8 intrinsic apoptotic signaling pathway GO:0097193 9.64 NBN MSH6
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.64 MSH2 BRCA2
10 male meiosis I GO:0007141 9.63 RAD51C BRCA2
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 MSH6 MSH2 MLH1
12 response to X-ray GO:0010165 9.62 MSH2 BRCA2
13 determination of adult lifespan GO:0008340 9.62 MSH6 MSH2
14 negative regulation of DNA recombination GO:0045910 9.61 MSH6 MSH2
15 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.61 BRCA2 BRCA1
16 DNA double-strand break processing GO:0000729 9.6 NBN BRCA1
17 inner cell mass cell proliferation GO:0001833 9.59 PALB2 BRCA2
18 postreplication repair GO:0006301 9.58 MSH2 BRCA1
19 telomere maintenance via recombination GO:0000722 9.58 RAD51C BRCA2
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.58 MSH6 MSH2 MLH1
21 positive regulation of isotype switching to IgG isotypes GO:0048304 9.57 MSH2 MLH1
22 isotype switching GO:0045190 9.56 NBN MSH6 MSH2 MLH1
23 DNA repair GO:0006281 9.56 RAD51C PALB2 NBN MSH6 MSH2 MLH1
24 positive regulation of helicase activity GO:0051096 9.55 MSH6 MSH2
25 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.55 MSH6 MSH2 MLH1 BRCA2 BRCA1
26 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MSH2 MLH1
27 maintenance of DNA repeat elements GO:0043570 9.52 MSH6 MSH2
28 chordate embryonic development GO:0043009 9.51 BRCA2 BRCA1
29 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.48 MSH2 MLH1
30 cellular response to DNA damage stimulus GO:0006974 9.28 RAD51C PALB2 NBN MSH6 MSH2 MLH1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 MSH6 MSH2 MLH1 BRCA1
2 single-stranded DNA binding GO:0003697 9.65 MSH2 MLH1 BRCA2
3 DNA-dependent ATPase activity GO:0008094 9.54 RAD51C MSH6 MSH2
4 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
5 oxidized purine DNA binding GO:0032357 9.43 MSH6 MSH2
6 four-way junction DNA binding GO:0000400 9.43 RAD51C MSH6 MSH2
7 single guanine insertion binding GO:0032142 9.4 MSH6 MSH2
8 mismatched DNA binding GO:0030983 9.33 MSH6 MSH2 MLH1
9 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
10 damaged DNA binding GO:0003684 9.26 NBN MSH6 MSH2 BRCA1
11 guanine/thymine mispair binding GO:0032137 8.8 MSH6 MSH2 MLH1

Sources for Breast-Ovarian Cancer, Familial 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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