Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The BRCA1 and FANCD2 proteins were detected by immunohistochemistry in 335 tissue samples obtained from patients with BC, including 141 patients with familial BC (FBC), 147 patients with sporadic breast cancer (SBC) and 47 patients with benign breast tumors. 30881493 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Additionally, we demonstrate detection of endogenous FANCD2 monoubiquitination in human breast cancer tissue. 29605812 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Some of the tagging single-nucleotide polymorphisms of 5 genes ( PALB2, TP53, Nijmegen breakage syndrome 1, PTEN, and BRCA1-interacting protein 1) involved in the monoubiquitinated FANCD2-DNA damage repair pathway were significantly associated with breast cancer risk. 30799775 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE In conclusion, truncating variants in TEX15 and FANCD2 are potential breast cancer risk factors, warranting further investigations in other populations. 28386063 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation disease BEFREE Four haplotypes within two genes (NBS1 and BRIP1) involved in the monoubiquitinated FANCD2-DNA damage-repair pathway are significantly associated with increased sporadic breast cancer risk, while one haplotype within NBS1 is correlated with an increased risk of familial or early-onset breast cancer, indicating that specific haplotypes may be distinct predictors of breast cancer. 23357080 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE RAD51 [hazard ratio (HR) 0.81, 95% confidence interval (CI) 0.70-0.94, P = 0.0050] and FANCD2 expression (HR 1.50, 95% CI 1.28-1.76, P = 1.50 × 10(-7)) were associated with breast cancer survival. 23897704 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE FANCF silencing by FANCF-shRNA blocked functions of FA/BRCA pathway through inhibition of FANCD2 mono-ubiquitination in breast cancer cell lines MCF-7 and T-47D. 22952942 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Eighteen of 96 (19%) sporadic breast cancers and two of 21 (10%) BRCA1-related breast cancers were completely FANCD2-negative, which, however, still showed proliferation. 17333336 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE The rare hereditary disorder Fanconi anemia (FA) can be caused by mutations in components of the FA core complex (FancA/B/C/E/F/G/L/M), a key regulator FancD2, the breast cancer susceptibility protein BRCA2/FancD1, or the newly identified FancJ/BRIP1 helicase. 17352736 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Two (6%) cell lines displayed abnormal Fancd2 monoubiquitination: the head and neck cancer cell line FaDu and the breast cancer cell line UACC812. 15107617 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Functional linkage between the FA pathway and genes involved in susceptibility to breast cancer has been demonstrated by the interaction of the FANCA and FANCD2 proteins with BRCA1, and the discovery that the FANCD1 gene is identical to BRCA2. 12915460 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE A previously reported molecular interaction between BRCA1 and the FA protein, FANCD2, supports the hypothesis that both breast-cancer-susceptibility genes are components of the FA pathway, functioning in DNA-damage response. 12383764 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE FANCD2, a downstream component of the FA pathway, has recently been shown to be ubiquitinated in response to DNA damage and to translocate to nuclear foci containing BRCA1, a breast cancer susceptibility gene product, suggesting a role for this protein in DNA repair functions. 11530803 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE When monoubiquitinated, the FANCD2 protein co-localizes with the breast cancer susceptibility protein BRCA1 in DNA damage induced foci. 11751423 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 Biomarker disease BEFREE Activated FANCD2 protein colocalizes with the breast cancer susceptibility protein, BRCA1, in ionizing radiation-induced foci and in synaptonemal complexes of meiotic chromosomes. 11239454 2001