RECQL, RecQ like helicase, 5965

N. diseases: 58; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 GeneticVariation disease BEFREE In summary, we found that 20 founder mutations in six genes (BRCA1/2, CHEK2, PALB2, NBN and RECQL) are responsible for 82% of Polish hereditary breast cancer families. 31173646 2019
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 Biomarker disease CLINGEN Germline RECQL mutations are associated with breast cancer susceptibility. 25915596 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 Biomarker disease CLINGEN Our findings suggest that RECQL is a potential breast cancer susceptibility gene and that mutations in this gene contribute to familial breast cancer development. 25945795 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 GeneticVariation disease BEFREE Our findings suggest that RECQL is a potential breast cancer susceptibility gene and that mutations in this gene contribute to familial breast cancer development. 25945795 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 Biomarker disease CLINGEN RECQL, a member of the RecQ family of DNA helicases, suppresses chromosomal instability. 17158923 2007
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 Biomarker disease CLINGEN Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges. 18074021 2007
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.320 Biomarker disease CLINGEN RECQ1 helicase interacts with human mismatch repair factors that regulate genetic recombination. 15886194 2005