Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)). 30730459 2019
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE In the present study, we exposed BRCA1-KO fibroblasts to extracellular vesicles (EVs) isolated from a colon cancer cell line (HT29) and from sera of patients with colorectal cancer. 31200749 2019
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE Heterogeneous nuclear ribonucleoprotein L facilitates recruitment of 53BP1 and BRCA1 at the DNA break sites induced by oxaliplatin in colorectal cancer. 31320608 2019
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE We characterized the largest cohort available of BRCA1/2 mutation carriers with colorectal cancer. 29321669 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE In subgroup meta-analyses of studies reporting estimates adjusted for age and sex, an increased risk of colorectal cancer for BRCA1 (OR = 1.56, 95% CI = 1.23 to 1.98, P < .001), but not for BRCA2 (OR = 1.09, 95% CI = 0.75 to 1.58, P = .66) was observed. 30380096 2018
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE Thus, CEP72 represents a putative oncogene in colorectal cancer that might negatively regulate the mitotic function of BRCA1 to ensure chromosomal stability. 26300001 2016
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Based on this evidence, women with BRCA1 mutations should be counseled about their increased risk for early-onset colorectal cancer, and offered colonoscopy at 3- to 5-year intervals between the ages of 40 and 50 years, and should follow population guidelines thereafter. 25195694 2015
Malignant neoplasm of colon and/or rectum
0.100 AlteredExpression disease BEFREE Epigenetic inactivation of the BRCA1 interactor SRBC and resistance to oxaliplatin in colorectal cancer. 24273214 2014
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE The risk of colorectal cancer is increased in female carriers of BRCA1 mutations below the age of 50 years but not in women with BRCA2 mutations or in older women. 24292448 2014
Malignant neoplasm of colon and/or rectum
0.100 AlteredExpression disease BEFREE CDC25A, VAV1, TP73, BRCA1 and ZAP70 gene overexpression correlates with radiation response in colorectal cancer. 21344162 2011
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE Prices for BRCA1 and 2 testing do not reflect an obvious price premium attributable to exclusive patent rights compared with colorectal cancer testing, and indeed, Myriad's per unit costs are somewhat lower for BRCA1/2 testing than testing for colorectal cancer susceptibility. 20393305 2010
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer. 20862552 2010
Malignant neoplasm of colon and/or rectum
0.100 AlteredExpression disease BEFREE Aneuploidy is associated with TP53 expression but not with BRCA1 or TERT expression in sporadic colorectal cancer. 20032382 2009
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE These results suggest a role for BRCA1/2 mutations in colorectal cancer risk in a subgroup of BC/OC-affected carriers. 17307836 2007
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE An increased risk of colorectal cancer has also been suggested in BRCA1 and BRCA2 mutation carriers. 16158938 2005
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE We investigated BRCA1/2 founder mutations and a family history of breast cancer as potential risk factors for colorectal cancer. 14709734 2004
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE To explore whether carriers of Ashkenazi founder mutations in BRCA1 or BRCA2 have an increased risk for colorectal cancer, we screened 586 unselected Ashkenazi Jewish case patients with colorectal cancer for the three common founder mutations in BRCA1 and BRCA2. 14709740 2004
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Intratumoral heterogeneity in microsatellite alterations in BRCA1 and PTEN regions in sporadic colorectal cancer. 14527905 2003
Malignant neoplasm of colon and/or rectum
0.100 PosttranslationalModification disease BEFREE Prognostic significance of the allelic loss of the BRCA1 gene in colorectal cancer. 14633957 2003
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Risks of ovarian, breast, and stomach cancers and leukemias/lymphomas were increased nine-, five-, six- and threefold, respectively, among first-degree relatives of cases carrying BRCA1 mutations, compared with relatives of noncarriers, and risk of colorectal cancer was increased threefold for relatives of cases carrying BRCA2 mutations. 11179017 2001
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE BRCA1 gene mutations may also be related with other types of cancers such as prostate cancer and colorectal cancer. 10810408 2000
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis. 11072248 2000
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation disease BEFREE The lifetime risk of colorectal cancer in male BRCA1 and BRCA2 mutation carriers was 5.6 percent, which was not different from 6 percent in males from the general population. 10458128 1999
Malignant neoplasm of colon and/or rectum
0.100 Biomarker disease BEFREE Genes underlying these cancers are now recognized in colorectal cancer (APC, mismatch repair genes, LKB1) and in breast cancer (BRCA1, BRCA2) whereas, in prostate cancer, a locus in chromosome 1 (HPC1) has been proposed on the basis of linkage analysis. 9690990 1998