Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility

CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

“…3,14,21 An association of the 1100delC allele with increased colon cancer and prostate cancer risk has been described, while an association with melanoma could not be found. [22][23][24][25] Other variants in CHEK2 have been associated with lung cancer, but a possible association of 1100delC with lung cancer has never been investigated. [26][27][28][29][30][31] Homozygosity for 1100delC is expected to be rare, and until recently, there had only been two reports on homozygous carriers, a male who developed colon cancer at age 52 years 32 and a female who developed bilateral breast cancer at ages 47 and 61 years and uterine sarcoma at age 58 years.…”

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

“…30 Significant associations between CHEK2 mutations and CRC risk have been identified in meta-analyses. 31,32 One meta-analysis of 7 studies that included 4,029 cases and 13,844 controls based on search criteria found a significant association between the CHEK2 I157T variant and CRC risk. 31 For carriers of CHEK2 mutations, the NCCN Panel recommends similar management strategies as described for carriers of the APC I1307K mutation.…”

“…[30][31][32] In a populationbased study of 5,953 patients with breast, prostate, or colon cancers (1,934 patients with colon cancer), 533 were CHEK2-positive and 431 were affected relatives. 30 After adjusting for mutation type, the risk of colon cancer was higher among relatives of probands with colon cancer than among relatives of patients with prostate or breast cancer (hazard ratio [HR], 4.2; 95% CI, 2.4-7.8; P=.0001).…”

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience

“…20,21 Given that CHEK2 mutations have been seen to increase risks of thyroid, ovarian, kidney, and colon cancer, we advised screening for these cancers in the context of a positive family history of these cancers. [22][23][24] The patient elected care at an outside institution and her follow-up is unknown.…”