Hereditary colorectal cancer risk lowered in those without certain gene defect

in AC-I families without MMR deficiency has been very limited but has hinted that could be differences from the AC-I families with MMR deficiency. Thus, in counseling such families, clinicians can now provide them with more accurate and lower-risk information, using these new data in combination with the specific family history," the authors write.

"The use of HNPCC as a label needs to be refined or made obsolete. The term HNPCC encompasses considerable heterogeneity and has come to mean different entities to difference people," the researchers write. "These families [AC-I families without MMR deficiency] should not be described or counseled as having HNPCC-Lynch syndrome [families with MMR deficiency]. To facilitate distinguishing these entities, the designation of 'familial colorectal cancer type X' is suggested to describe this type of familial aggregation of colorectal cancer."


Contact: Cathryn Stroebel
JAMA and Archives Journals

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