| BRCA1 |
DNA |
gene mutation |
may cause |
|
chromatin remodeling |
Breast
Neoplasms |
|
mutation in the BRCA1 gene may
cause abnormal chromatin remodeling associated with breast neoplasms
[22], E |
| BRCA1 |
DNA |
promoter hypermethylation |
correlates with |
non-familial/sporadic |
|
Breast
Neoplasms
|
|
hypermethylation of the BRCA1
promoter correlates with non-familial form of breast neoplasms
[30], E |
| BRCA1 |
DNA |
gene deletion mutation |
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
deletion mutation in the BRCA1
gene may cause increased occurrence of familial form of breast
neoplasms [51], E; [23], E |
| BRCA1 |
DNA |
gene deletion mutation |
may cause |
|
transcription |
Breast
Neoplasms
|
|
deletion mutation in the BRCA1
gene may cause abnormal transcription associated with breast neoplasms
[34], E |
| BRCA1 |
Protein |
ubiquitin-protein ligase activity
|
may cause |
|
protein polyubiquitination |
Breast
Neoplasms
|
|
absence of the ubiquitin-protein
ligase activity of BRCA1 may cause
decreased protein polyubiquitination associated with breast neoplasms
[26], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
|
response to drug |
Breast
Neoplasms
|
|
increased expression of BRCA1
protein correlates with increased response to drug associated with
breast neoplasms [37], E |
| BRCA1 |
Protein |
decreased folding |
may cause |
|
|
Breast
Neoplasms
|
|
decreased folding of BRCA1 may
cause breast neoplasms [8], E |
| BRCA1 |
DNA |
mutation in PFAM domain |
causes |
|
|
Breast
Neoplasms
|
|
mutation in the BRCA1 C Terminus
(BRCT) domain of BRCA1 causes breast neoplasms [11], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
DNA repair |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with decreased DNA repair associated with breast neoplasms
[17], E |
| BRCA1 |
DNA |
gene loss of heterozygosity |
correlates with |
Carcinoma, Small Cell |
|
Breast
Neoplasms
|
|
loss of heterozygosity at the
BRCA1 gene correlates with small cell carcinoma associated with breast
neoplasms [18], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
protein metabolic process |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with abnormal protein metabolic process associated with
breast neoplasms [12], E |
| BRCA1 |
DNA |
gene mutation |
causes |
increased occurrence of early
onset form |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene causes
increased occurrence of early onset form of breast neoplasms
[43], E; [9], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with breast neoplasms [16], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
early onset |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with early onset form of breast neoplasms [28], E |
| BRCA1 |
mRNA |
increased mRNA expression |
may correlate with |
|
response to organic substance
|
Breast
Neoplasms
|
|
increased expression of BRCA1 mRNA
may correlate with increased
response to organic substance associated with breast neoplasms
[6], E |
| BRCA1 |
mRNA |
lack of mRNA expression |
correlates with |
non-familial/sporadic |
|
Breast
Neoplasms
|
|
lack of expression of BRCA1 mRNA
correlates with non-familial form of breast neoplasms [30], E |
| BRCA1 |
Protein |
transcription activator activity
|
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
decreased transcription activator
activity of BRCA1 may cause increased
occurrence of familial form of breast neoplasms [23], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may cause |
|
|
Breast
Neoplasms
|
|
hypermethylation of the BRCA1
promoter may cause breast neoplasms [35], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
familial |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with familial form of breast neoplasms [12], E; [41], E; [28], E |
| BRCA1 |
DNA |
gene mutation |
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene may
cause increased occurrence of familial form of breast neoplasms
[14], E |
| BRCA1 |
DNA |
gene deletion mutation |
may cause |
|
chromatin remodeling |
Breast
Neoplasms
|
|
deletion mutation in the BRCA1
gene may cause abnormal chromatin remodeling associated with breast
neoplasms [34], E |
| BRCA1 |
DNA |
gene missense mutation |
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
missense mutation in the BRCA1
gene may cause increased occurrence of familial form of breast
neoplasms [51], E; [23], E |
| BRCA1 |
DNA |
promoter hypermethylation |
correlates with |
|
|
Breast
Neoplasms
|
|
hypermethylation of the BRCA1
promoter correlates with carcinoma tumors associated with breast
neoplasms [30], E |
| BRCA1 |
DNA |
gene mutation |
causes |
familial |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene causes
familial form of breast neoplasms [53], E |
| BRCA1 |
mRNA |
lack of mRNA expression |
correlates with |
|
|
Breast
Neoplasms
|
|
lack of expression of BRCA1 mRNA
correlates with carcinoma tumors associated with breast neoplasms
[30], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with carcinoma tumors associated with breast neoplasms
[41], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
Disease Susceptibility |
|
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with increased occurrence of
disease susceptibility associated with breast neoplasms [13], E |
| BRCA1 |
Protein |
altered protein stability |
may cause |
|
|
Breast
Neoplasms
|
|
abnormal stability of BRCA1 may
cause breast neoplasms [11], E |
| BRCA1 |
DNA |
gene mutation |
may cause |
|
protein polyubiquitination |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene may
cause decreased protein polyubiquitination associated with breast
neoplasms [26], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may cause |
non-familial/sporadic |
|
Breast
Neoplasms
|
|
hypermethylation of the BRCA1
promoter may cause non-familial form of breast neoplasms [35], E |
| BRCA1 |
Protein |
lack of protein expression |
correlates with |
Death |
|
Breast
Neoplasms
|
|
lack of expression of BRCA1
protein correlates with increased occurrence of death associated with
breast neoplasms [25], E |
| BRCA1 |
DNA |
gene nonsense mutation |
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
nonsense mutation in the BRCA1
gene may cause increased occurrence of familial form of breast
neoplasms [51], E; [23], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
|
cell proliferation |
Breast
Neoplasms
|
|
increased expression of BRCA1
protein correlates with decreased cell
proliferation associated with breast neoplasms [37], E |
| BRCA1 |
DNA |
gene mutation |
may cause |
|
DNA repair |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene may
cause decreased DNA repair associated with breast neoplasms
[10], E |
| BRCA1 |
DNA |
gene insertion mutation |
may cause |
increased occurrence of familial
form |
|
Breast
Neoplasms
|
|
insertion mutation in the BRCA1
gene may cause increased occurrence of familial form of breast
neoplasms [51], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
transcription |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene
correlates with abnormal transcription associated with breast neoplasms
[15], E |
| BRCA1 |
DNA |
protein domain missense mutation
|
causes |
|
|
Breast
Neoplasms
|
|
missense mutation in the BRCA1 C
Terminus (BRCT) domain of BRCA1 causes breast neoplasms [8], E |
| BRCA1 |
Protein |
decreased protein stability |
may cause |
|
|
Breast
Neoplasms
|
|
decreased stability of BRCA1 may
cause breast neoplasms [8], E |
| BRCA1 |
DNA |
gene mutation |
may cause |
|
transcription |
Breast
Neoplasms
|
|
mutation in the BRCA1 gene may
cause abnormal transcription associated with breast neoplasms
[21], E |
| BRCA1 |
DNA |
gene missense mutation |
may correlate with |
Prostatic Neoplasms |
|
Breast Neoplasms, Male |
|
missense mutation in the BRCA1
gene may correlate with prostatic neoplasms associated with male breast
neoplasms [4], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
|
Breast
Neoplasms, Male |
|
mutation in the BRCA1 gene
correlates with male breast neoplasms [16], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may correlate with |
|
|
Carcinoma, Non-Small-Cell
Lung |
|
hypermethylation of the BRCA1
promoter may correlate with non-small-cell lung carcinoma [2], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may correlate with |
|
|
Carcinoma,
Non-Small-Cell Lung |
|
hypermethylation of the BRCA1
promoter may correlate with
adenocarcinoma tumors associated with non-small-cell lung carcinoma
[2], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
correlates with |
|
|
Colonic
Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus correlates with colonic neoplasms [49], E |
| BRCA1 |
DNA |
gene mutation |
may correlate with |
Disease Susceptibility |
|
Colorectal
Neoplasms |
|
mutation in the BRCA1 gene may
correlate with increased occurrence of
disease susceptibility associated with colorectal neoplasms
[32], E |
| BRCA1 |
DNA |
gene mutation |
may correlate with |
increased occurrence of
non-familial form |
|
Colorectal
Neoplasms |
|
mutation in the BRCA1 gene may
correlate with increased occurrence of non-familial form of colorectal
neoplasms [32], E |
| BRCA1 |
DNA |
gene insertion mutation |
may not cause |
Disease Susceptibility |
|
Colorectal
Neoplasms |
|
insertion mutation in the BRCA1
gene does not cause increased
occurrence of disease susceptibility associated with colorectal
neoplasms [27], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
|
|
Colorectal
Neoplasms |
|
increased expression of BRCA1
protein correlates with carcinoma tumors associated with colorectal
neoplasms [20], E |
| BRCA1 |
DNA |
gene mutation |
does not correlate with |
Disease Susceptibility |
|
Colorectal
Neoplasms |
|
mutation in the BRCA1 gene does
not correlate with increased occurrence
of disease susceptibility associated with colorectal neoplasms
[33], E |
| BRCA1 |
DNA |
gene deletion mutation |
may not cause |
Disease Susceptibility |
|
Colorectal
Neoplasms |
|
deletion mutation in the BRCA1
gene does not cause increased occurrence
of disease susceptibility associated with colorectal neoplasms
[27], E |
| BRCA1 |
Protein |
increased protein localization
|
correlates with |
|
|
Colorectal
Neoplasms |
|
increased nucleus localization of
BRCA1 correlates with carcinoma tumors associated with colorectal
neoplasms [20], E |
| BRCA1 |
Protein |
increased protein localization
|
correlates with |
non-familial/sporadic |
|
Colorectal
Neoplasms |
|
increased nucleus localization of
BRCA1 correlates with non-familial form of colorectal neoplasms
[20], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
non-familial/sporadic |
|
Colorectal
Neoplasms |
|
increased expression of BRCA1
protein correlates with non-familial form of colorectal neoplasms
[20], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
correlates with |
Barrett Esophagus |
|
Esophageal
Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus correlates with Barrett esophagus associated with
esophageal neoplasms [42], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
correlates with |
|
|
Esophageal
Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus correlates with
adenocarcinoma tumors associated with esophageal neoplasms
[42], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
correlates with |
|
|
Esophageal
Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus correlates with squamous cell
carcinoma tumors associated with esophageal neoplasms [52], E |
| BRCA1 |
DNA |
gene polymorphism |
may correlate with |
|
|
Eye Diseases, Hereditary |
|
polymorphism in the BRCA1 gene
may correlate with melanoma tumors associated with hereditary eye
diseases [47], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
may correlate with |
|
|
Laryngeal
Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus may correlate with laryngeal neoplasms [50], E |
| BRCA1 |
DNA |
gene polymorphism |
may correlate with |
|
|
Melanoma
|
|
polymorphism in the BRCA1 gene
may correlate with melanoma [47], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
correlates with |
invasive |
|
Melanoma |
|
decreased expression of BRCA1
mRNA correlates with invasive form of melanoma [1], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
correlates with |
|
|
Melanoma |
|
decreased expression of BRCA1
mRNA correlates with melanoma [1], E |
| BRCA1 |
DNA |
promoter hypermethylation |
correlates with |
|
|
Ovarian
Neoplasms |
|
hypermethylation of the BRCA1
promoter correlates with carcinoma tumors associated with ovarian
neoplasms [30], E |
| BRCA1 |
DNA |
gene deletion mutation |
may cause |
increased occurrence of familial
form |
|
Ovarian
Neoplasms |
|
deletion mutation in the BRCA1
gene may cause increased occurrence of familial form of ovarian
neoplasms [23], E |
| BRCA1 |
mRNA |
increased mRNA expression |
correlates with |
|
|
Ovarian
Neoplasms |
|
increased expression of BRCA1
mRNA correlates with ovarian neoplasms [39], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may cause |
non-familial/sporadic |
|
Ovarian
Neoplasms |
|
hypermethylation of the BRCA1
promoter may cause non-familial form of ovarian neoplasms [35], E |
| BRCA1 |
DNA |
promoter hypermethylation |
correlates with |
non-familial/sporadic |
|
Ovarian
Neoplasms |
|
hypermethylation of the BRCA1
promoter correlates with non-familial form of ovarian neoplasms
[30], E |
| BRCA1 |
mRNA |
lack of mRNA expression |
correlates with |
non-familial/sporadic |
|
Ovarian
Neoplasms |
|
lack of expression of BRCA1 mRNA
correlates with non-familial form of ovarian neoplasms [30], E |
| BRCA1 |
DNA |
gene mutation |
causes |
familial |
|
Ovarian
Neoplasms |
|
mutation in the BRCA1 gene causes
familial form of ovarian neoplasms [53], E |
| BRCA1 |
DNA |
gene nonsense mutation |
may cause |
increased occurrence of familial
form |
|
Ovarian
Neoplasms |
|
nonsense mutation in the BRCA1
gene may cause increased occurrence of familial form of ovarian
neoplasms [23], E |
| BRCA1 |
Protein |
transcription activator activity
|
may cause |
increased occurrence of familial
form |
|
Ovarian
Neoplasms |
|
decreased transcription activator
activity of BRCA1 may cause increased
occurrence of familial form of ovarian neoplasms [23], E |
| BRCA1 |
DNA |
gene missense mutation |
may cause |
increased occurrence of familial
form |
|
Ovarian
Neoplasms |
|
missense mutation in the BRCA1
gene may cause increased occurrence of familial form of ovarian
neoplasms [23], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
|
Ovarian
Neoplasms |
|
mutation in the BRCA1 gene
correlates with ovarian neoplasms [16], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
familial |
|
Ovarian
Neoplasms |
|
mutation in the BRCA1 gene
correlates with familial form of ovarian neoplasms [41], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may cause |
|
|
Ovarian
Neoplasms |
|
hypermethylation of the BRCA1
promoter may cause ovarian neoplasms [35], E |
| BRCA1 |
mRNA |
lack of mRNA expression |
correlates with |
|
|
Ovarian
Neoplasms |
|
lack of expression of BRCA1 mRNA
correlates with carcinoma tumors associated with ovarian neoplasms
[30], E |
| BRCA1 |
DNA |
gene mutation |
correlates with |
|
|
Ovarian
Neoplasms |
|
mutation in the BRCA1 gene
correlates with carcinoma tumors associated with ovarian neoplasms
[41], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
correlates with |
Adenocarcinoma |
|
Pancreatic
Neoplasms |
|
decreased expression of BRCA1
mRNA correlates with adenocarcinoma associated with pancreatic
neoplasms [5], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
correlates with |
Death |
|
Pancreatic
Neoplasms |
|
decreased expression of BRCA1 mRNA
correlates with increased occurrence
of death associated with pancreatic neoplasms [5], E |
| BRCA1 |
DNA |
gene insertion mutation |
may correlate with |
|
|
Pancreatic
Neoplasms |
|
insertion mutation in the BRCA1
gene may correlate with adenocarcinoma tumors associated with
pancreatic neoplasms [31], E |
| BRCA1 |
DNA |
gene insertion mutation |
may correlate with |
familial |
|
Pancreatic
Neoplasms |
|
insertion mutation in the BRCA1
gene may correlate with familial form of pancreatic neoplasms
[31], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
correlates with |
chronic |
|
Pancreatitis, Alcoholic |
|
decreased expression of BRCA1
mRNA correlates with chronic form of alcoholic pancreatitis
[5], E |
| BRCA1 |
DNA |
maps to disease locus |
does not correlate with |
Genetic Predisposition to Disease
|
|
Prostatic
Neoplasms |
|
BRCA1 map position does not
correlate with genetic predisposition to disease associated with
prostatic neoplasms [45], E |
| BRCA1 |
DNA |
gene mutation |
does not correlate with |
familial |
|
Prostatic
Neoplasms |
|
mutation in the BRCA1 gene does
not correlate with familial form of prostatic neoplasms [46], E |
| BRCA1 |
DNA |
gene mutation |
may not correlate with |
early onset |
|
Prostatic
Neoplasms |
|
mutation in the BRCA1 gene may
not correlate with early onset form of prostatic neoplasms
[29], E |
| BRCA1 |
Protein |
transcription coactivator activity
|
may cause |
|
cell death |
Prostatic
Neoplasms |
|
increased transcription
coactivator activity of BRCA1 may cause
increased cell death associated with prostatic neoplasms [36], E |
| BRCA1 |
mRNA |
increased mRNA expression |
may correlate with |
Aneuploidy |
|
Prostatic
Neoplasms |
|
increased expression of BRCA1
mRNA may correlate with aneuploidy associated with prostatic neoplasms
[19], E |
| BRCA1 |
Protein |
increased protein expression |
may cause |
|
cell proliferation |
Prostatic
Neoplasms |
|
increased expression of BRCA1
protein may cause increased cell proliferation associated with
prostatic neoplasms [24], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
|
cell proliferation |
Prostatic
Neoplasms |
|
increased expression of BRCA1
protein correlates with decreased cell
proliferation associated with prostatic neoplasms [37], E |
| BRCA1 |
DNA |
gene missense mutation |
may correlate with |
Breast Neoplasms, Male |
|
Prostatic
Neoplasms |
|
missense mutation in the BRCA1
gene may correlate with male breast neoplasms associated with prostatic
neoplasms [4], E |
| BRCA1 |
DNA |
gene mutation |
may not correlate with |
familial |
|
Prostatic
Neoplasms |
|
mutation in the BRCA1 gene may
not correlate with familial form of prostatic neoplasms [29], E; [38], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
may correlate with |
less severe |
|
Prostatic
Neoplasms |
|
decreased expression of BRCA1
mRNA may correlate with less severe form of prostatic neoplasms
[40], E |
| BRCA1 |
mRNA |
increased mRNA expression |
correlates with |
|
|
Prostatic
Neoplasms |
|
increased expression of BRCA1
mRNA correlates with prostatic neoplasms [39], E |
| BRCA1 |
DNA |
maps to disease locus |
correlates with |
Genetic Predisposition to Disease
|
|
Prostatic
Neoplasms |
|
BRCA1 map position correlates
with genetic predisposition to disease associated with prostatic
neoplasms [7], E |
| BRCA1 |
Protein |
maps to disease locus |
correlates with |
Neoplasm Metastasis |
|
Prostatic
Neoplasms |
|
BRCA1 map position correlates
with decreased severity of neoplasm metastasis associated with
prostatic neoplasms [48], E |
| BRCA1 |
Protein |
increased protein expression |
correlates with |
|
response to drug |
Prostatic
Neoplasms |
|
increased expression of BRCA1
protein correlates with increased
response to drug associated with prostatic neoplasms [37], E |
| BRCA1 |
DNA |
promoter hypermethylation |
may correlate with |
|
|
Uterine Cervical Neoplasms
|
|
hypermethylation of the BRCA1
promoter may correlate with uterine cervical neoplasms [3], E |
| BRCA1 |
mRNA |
decreased mRNA expression |
may correlate with |
|
|
Uterine
Cervical Neoplasms |
|
decreased expression of BRCA1
mRNA may correlate with uterine cervical neoplasms [3], E |
| BRCA1 |
DNA |
locus loss of heterozygosity |
correlates with |
|
|
Uterine
Cervical Neoplasms |
|
loss of heterozygosity at the
BRCA1 locus correlates with carcinoma
tumors associated with uterine cervical neoplasms [44], E |