rs63750875
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population.
|
15516845 |
2004 |
rs63750875
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Lifetime risks of CRC and EC in MSH2 A636P carriers are high even after adjusting for ascertainment.
|
21419771 |
2011 |
rs63750875
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer.
|
17414604 |
2007 |
rs63750875
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer.
|
18674656 |
2008 |
rs1064795747
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland.
|
19876921 |
2010 |
rs1114167857
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma.
|
21156417 |
2010 |
rs17217772
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients.
|
22581703 |
2012 |
rs374399939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
NTRK gene mutations were identified in MSH2/MLH1-mutant CRC including NTRK1 I699V, NTRK2 P716S, and NTRK3 R745L.
|
28591715 |
2017 |
rs63749984
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim.
|
15184898 |
2004 |
rs780178752
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer.
|
17942459 |
2007 |