A novel germline CHEK2 deletion truncating the kinase domain identified in a French family with high-risk of breast/ovarian cancer.
Escudie
Pauline
P
Monteil-Onteniente
Sylvia
S
Gladieff
Laurence
L
Feillel
Viviane
V
Guimbaud
Rosine
R
Favre
Gilles
G
Toulas
Christine
C
D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D064447:Checkpoint Kinase 2; D005260:Female; D005602:France; D020022:Genetic Predisposition to Disease; D006801:Humans; D008969:Molecular Sequence Data; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012307:Risk Factors
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases