CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum.
BACKGROUND
Development of multiple primary tumors is a hallmark of hereditary cancer. At least 1/10 of breast cancers and colorectal cancers occur because of heredity and recently the cell cycle kinase 2, CHEK2 1100delC allele has been identified at a particularly high frequency in families with hereditary breast and colorectal cancer.


METHODS
We utilized the Southern Sweden population-based cancer registry to identify women with double primary breast and colorectal cancer and sequenced tumor material in order to assess the contribution of the CHEK2 1100delC to the development of such metachronous tumors.


RESULTS
Among the 75 patients successfully analyzed, 2 (2.5%) carried the CHEK2 1100delC allele. which was not significantly different (p = 0.26) from the 1% (3/300) carriers identified in the control group.


CONCLUSIONS
In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant.
Department of Oncology, Institute of Clinical Sciences, Lund University, 221 85 Lund, Sweden. Anna.Isinger@med.lu.se
Anna
A
Isinger
Misha
M
Bhat
Ake
A
Borg
Mef
M
Nilbert
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D064447:Checkpoint Kinase 2; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000175:diagnosis / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012042:Registries; D017384:Sequence Deletion; D013548:Sweden
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases