rs63750909, MSH6;FBXO11

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). 28460341 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. 27013479 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. 25648859 2015
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. 22495361 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. 22495361 2012
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 21836479 2011
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 21836479 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. 19575290 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 20587412 2010
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 18566915 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168 2004
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168 2004
Hereditary Nonpolyposis Colorectal Cancer
0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168 2004
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 CausalMutation CLINVAR Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 15236168 2004