Table 3

Common nsSNPs with a possible role in cancer predisposition. Only the information derived from the studies on the protein function as well as the studies with a suggestion of disease-association have been included. 1 and 2 under the frequency column represents the nsSNP with minor allele frequencies <5% and ≥5%, respectively [20-21].

Pathway

Gene

nsSNP

Possible effect on phosphorylation

Frequency

Functional analysis

Cancer risk association

DNA repair

BRCA1

P871L

Abolishes at S869

2

-

-

ERCC4

P379S

Creates at S379

1 and 2

-

-

IGHMBP2

T671A

Abolishes at S672

2

-

-

OGG1

S326C

Abolishes at S326

2

Yamane et al. [55]

Sugimura et al. [52];

Xing et al. [53];

Elahi et al. [54]

XRCC3

T241M

Abolishes and T241

2

Yoshihara et al. [51]

Winsey et al. [49];

Kuschel et al. [47];

Shen et al. [50];

Figueiredo et al. [48]

Cell cycle

CCND3

S259A

Abolishes at S359

2

-

-

CDKN1A

S31R

Abolishes at S31

2

Chedid et al. [59]

Wu et al. [58];

Roh et al. [56];

Tsai et al. [57]

Savas and Ozcelik BMC Cancer 2005 5:107   doi:10.1186/1471-2407-5-107