Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Methylation of blood-derived DNA was found to be elevated across 17 consecutive marks in the BRCA1 promoter region and decreased at several other genomic regions (including TWIST2 and CTBP1) for 7 women (23%) diagnosed with BRCA1-like breast cancer compared with women in the other groups. 30423315

2018

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 PosttranslationalModification BEFREE None of the studied BC cell lines presented hypermethylation of the BRCA1 promoter region. 29259228

2017

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE In addition to the BRCA1 promoter region, this work identified regions with variable methylation at multiple breast cancer susceptibility genes including PALB2 and MLH1. 27902704

2016

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 PosttranslationalModification BEFREE For the index cases, a standardised tumour morphology review had been conducted for all; estrogen (ER) and progesterone receptor (PR) status was available for 401 (89%), and 77 (17%) had a high-risk mutation in a breast cancer susceptibility gene or methylation of the BRCA1 promoter region in peripheral blood DNA. 22929433

2012

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 Biomarker BEFREE We hypothesized that constitutional methylation of the BRCA1 promoter region could give rise to such breast cancers in women. 20978112

2011

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 PosttranslationalModification BEFREE Of 32 sporadic breast cancers investigated in this study, 10 (31%) revealed DNA methylation of the BRCA1 promoter region. 10835497

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE Methylation of blood-derived DNA was found to be elevated across 17 consecutive marks in the BRCA1 promoter region and decreased at several other genomic regions (including TWIST2 and CTBP1) for 7 women (23%) diagnosed with BRCA1-like breast cancer compared with women in the other groups. 30423315

2018

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 PosttranslationalModification BEFREE None of the studied BC cell lines presented hypermethylation of the BRCA1 promoter region. 29259228

2017

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE In addition to the BRCA1 promoter region, this work identified regions with variable methylation at multiple breast cancer susceptibility genes including PALB2 and MLH1. 27902704

2016

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 PosttranslationalModification BEFREE For the index cases, a standardised tumour morphology review had been conducted for all; estrogen (ER) and progesterone receptor (PR) status was available for 401 (89%), and 77 (17%) had a high-risk mutation in a breast cancer susceptibility gene or methylation of the BRCA1 promoter region in peripheral blood DNA. 22929433

2012

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 PosttranslationalModification BEFREE BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study. 11034065

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 PosttranslationalModification BEFREE The restriction of BRCA1 promoter region hypermethylation to breast and ovarian cancer is consistent with a pathogenetic role of BRCA1 promoter methylation in these tumours. 10657950

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 PosttranslationalModification BEFREE BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study. 11034065

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 PosttranslationalModification BEFREE The restriction of BRCA1 promoter region hypermethylation to breast and ovarian cancer is consistent with a pathogenetic role of BRCA1 promoter methylation in these tumours. 10657950

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. 10208417

1999

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.030 GeneticVariation BEFREE Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. 10208417

1999

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.020 PosttranslationalModification BEFREE The restriction of BRCA1 promoter region hypermethylation to breast and ovarian cancer is consistent with a pathogenetic role of BRCA1 promoter methylation in these tumours. 10657950

2000

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.020 GeneticVariation BEFREE Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. 10208417

1999

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
Hereditary Breast and Ovarian Cancer Syndrome
0.010 GeneticVariation BEFREE We analyzed wild-type (WT) and four sequence variants of the BRCA1 promoter region-found in patients selected for hereditary breast and ovarian cancer syndrome-in respect to their influence on transcription and translation efficiencies in transient transfection assays in the presence or absence of estrogen. 24293149

2014

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma
0.010 PosttranslationalModification BEFREE Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer. 23405268

2013

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 PosttranslationalModification BEFREE DNA methylation profile in diffuse type gastric cancer: evidence for hypermethylation of the BRCA1 promoter region in early-onset gastric carcinogenesis. 19399343

2008

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 PosttranslationalModification BEFREE DNA methylation profile in diffuse type gastric cancer: evidence for hypermethylation of the BRCA1 promoter region in early-onset gastric carcinogenesis. 19399343

2008

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 PosttranslationalModification BEFREE DNA methylation profile in diffuse type gastric cancer: evidence for hypermethylation of the BRCA1 promoter region in early-onset gastric carcinogenesis. 19399343

2008

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 Biomarker BEFREE We found a high frequency of hypermethylation of the BRCA1 promoter region in AML (51/133 samples, 38%), in particular in patients with karyotypic aberrations (P=0.026), and in t-AML, as compared to de novo AML (76 vs 31%, P=0.0002). 17047656

2006

Entrez Id: 111589215
Gene Symbol: LOC111589215
LOC111589215
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.010 PosttranslationalModification BEFREE BRCA1 promoter region hypermethylation in ovarian carcinoma: a population-based study. 11034065

2000