Summary of the pathogenic mutations detected and family history of the probands.

+<p>Mutation nomenclature according to NM_000249.3 (<i>MLH1</i>), NM_000251.2 (<i>MSH2</i>) and NM_000179.2 (<i>MSH6</i>). For the nomenclature of mutations nucleotide 1 is the A of the ATG-translation initiation codon.</p>++<p>BrC – brain cancer.</p><p>CRC – colorectal cancer.</p><p>EC – endometrial cancer.</p><p>RC – renal cancer.</p

Summary of the missense mutations identified.

+<p>Mutation nomenclature according to NM_000249.3 (<i>MLH1</i>), NM_000251.2 (<i>MSH2</i>) and NM_000179.2 (<i>MSH6</i>). For the nomenclature of mutations nucleotide 1 is the A of the ATG-translation initiation codon.</p>++<p>Class 1: not pathogenic.</p><p>Class 3: uncertain.</p><p>Class 5: pathogenic.</p>+++<p>BC – breast cancer.</p><p>CRC – colorectal cancer.</p><p>GC – gastric cancer.</p><p>OC – ovarian cancer.</p