CS
While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of sporadically occurring neoplasia.
While germline mutations at this chromosome 10q22-23 locus have been observed in patients with <span class="disease" id="11748304-2-95-110">Cowden syndrome</span> (<span class="disease" id="11748304-2-112-114">CS</span>) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of <span class="gene" id="11748304-2-253-257">PTEN</span> has been established in a wide variety of sporadically occurring neoplasia.