Molecular Screening for Colorectal Cancer
Author Information
Author(s): Dieumegard B, Grandjouan S, Sabourin J-C, Bihan M-L Le, Lefrère I, Bellefqih, Pignon J-P, Rougier P, Lasser P, Bénard J, Couturier D, Bressac-de Paillerets B
Primary Institution: Institut Gustave Roussy
Hypothesis
Can simple tests on tumors help identify candidates for genetic analysis in hereditary non-polyposis colorectal cancer?
Conclusion
Simple tests on tumor samples can help distinguish between hereditary and sporadic cases of colorectal cancer.
Supporting Evidence
- 88% of HNPCC cases showed microsatellite instability.
- 53% of HNPCC cases had pathogenic germline mutations.
- All early-onset sporadic cases were microsatellite stable.
Takeaway
Doctors can use tests on tumor samples to figure out if someone has a family history of colorectal cancer or if it's just a one-time thing.
Methodology
The study involved testing tumor samples for microsatellite instability and specific protein expressions.
Participant Demographics
Included HNPCC kindreds, families not meeting criteria, and sporadic cases diagnosed before age 50.
Digital Object Identifier (DOI)
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