Lynch syndrome: still not a familiar picture.
BACKGROUND
Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems.


METHODS
A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening on the basis of the family history.


CONCLUSIONS
Hereditary features, like young age at diagnosis, multiple tumors in multiple organs and a positive family history, should lead to timely referral of suspected cases for genetic counseling and diagnostics. For Lynch syndrome, these features can be found in the Amsterdam and Bethesda criteria. Subsequently, early identification of mutation carriers might have diminished, at least in part, the high and early morbidity and mortality observed in this family.
Hes
Frederik J
FJ
Center for Human and Clinical Genetics (CHKG), Department of Clinical Genetics, Leiden University Medical Center (LUMC), RC Leiden, The Netherlands. f.j.hes@lumc.nl
D000230:Adenocarcinoma; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn; D006801:Humans; D008875:Middle Aged; D009154:Mutation