Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer.
A polymorphism in hMSH2 gene has been associated with an increased susceptibility to develop colorectal cancer (CRC). Here we show that it is a genetic risk factor for CRC in the Spanish population. However, its presence does not apparently affect hMSH2 function.
Palicio
M
M
Laboratori d'Investigació Gastrointestinal, Institut de Recerca, Hospital de Sant Pau, Barcelona, Spain.
Blanco
I
I
Tórtola
S
S
González
I
I
Marcuello
E
E
Brunet
J
J
Lluis
F
F
González-Aguilera
J J
JJ
Peinado
M A
MA
Capella
G
G
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D017398:Alternative Splicing; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000235:genetics*; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005091:Exons; D006801:Humans; D007438:Introns; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D011110:Polymorphism, Genetic; D011518:Proto-Oncogene Proteins / Q000235:genetics*
D017931:DNA Primers; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein