Analysis of familial male breast cancer for germline mutations in CHEK2.
We have previously shown that the1100delC variant of the cell-cycle-checkpoint kinase gene CHEK2, which is carried by approximately 1% of the population confers a two-fold increase in female breast cancer and a 10-fold increase in male breast cancer. To extend our knowledge on the role of CHEK2 in susceptibility to male breast cancer we have screened a series of 26 breast cancer cases with male representation for germline sequence variation in the CHEK2 gene. One individual was found to harbour the 1100delC variant. No other mutations were identified. Variants other than 1100delC are rare in male breast cancer.
Royal Marsden NHS Trust, Downs Road, Sutton SM2 5PT, UK. nayanta@icr.ac.uk
Nayanta
N
Sodha
Charlotte
C
Wilson
Sarah L
SL
Bullock
Hazel
H
Phillimore
Richard S
RS
Houlston
Rosalind A
RA
Eeles
D018567:Breast Neoplasms, Male / Q000235:genetics*; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases