Gabriela Möslein

TL;DR: Cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference χ2; 1 df; P = 0.43), and the type or site of STK 11/L KB1 mutation did not significantly influence cancer risk.

TL;DR: The guidelines described in this paper may be helpful for the appropriate management of families with LS and Prospective controlled studies should be undertaken to improve further the care of these families.

TL;DR: Examining the protein expression pattern of hMSH2 and hMLH1 by immunohistochemistry in paraffin-embedded tumors from 7 patients with MIN+ sporadic cancer, 13 patients with familial colorectal cancer, and 12 patients meeting the strict Amsterdam criteria for hereditary nonpolyposis colon cancer suggest that examination of protein expression by immunOHistochemistry may be a rapid method for prescreening tumors for mutations in the MMR genes.

TL;DR: The four Lynch syndrome-associated genes had different penetrance and expression, and colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths.

TL;DR: With the exception of three prepubertal children all patients with mutations in codons 1445-1578 developed desmoid tumours, which points to a specific role of the APC protein in different tissues.