STK11, serine/threonine kinase 11, 6794

N. diseases: 231; N. variants: 115
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
0.330 GeneticVariation disease BEFREE However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2. 25736863 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.330 GeneticVariation disease BEFREE After excluding BRCA1 and BRCA2 mutations, factors proposed to contribute to familial breast cancer include: chance clustering of apparently sporadic cases, shared lifestyle, monogenic inheritance, i.e., dominant gene mutations associated with a high risk (TP53, PTEN, STK11), dominant gene mutations associated with a relatively low risk (ATM, BRIP1, RLB2), recessive gene mutations associated with horizontal inheritance patterns (sister-sister), and polygenic inheritance where susceptibility to familial breast cancer is thought to be conferred by a large number of low risk alleles. 24306927 2014
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.330 Biomarker disease GENOMICS_ENGLAND Very high risk of cancer in familial Peutz-Jeghers syndrome. 11113065 2000
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.330 GeneticVariation disease BEFREE Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH on 19p. 10852375 2000