Background: There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome.
Methods: A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996.
Results: A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens.