Figure 1.

F41 pedigree. The F41 family carries the splice donor site alteration (c.790+1G > A) in exon 9 of the MLH1 gene. Predominantly colorectal and endometrial cancer cases are encountered across three successive generations, being diagnosed ≤ 50y, thus this family fulfills the Amsterdam criteria II. Furthermore, two metachronous cases of cancer were reported, which is another clinical feature of Lynch syndrome. Particularly, the proband developed 2nd primary colorectal cancer at 77y, while one of her daughters developed colorectal cancer at 45y and endometrial cancer at 58y. Regarding the cases of breast and thyroid cancer reported, it seems that they are not part of Lynch syndrome's clinical manifestations, as the index patients do not carry the particular mutation running in the family. (wt/wt: homozygous for the wild type allele, wt/mut: heterozygous for the mutant allele)

Thodi et al. BMC Cancer 2010 10:544   doi:10.1186/1471-2407-10-544
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