In addition to this, two patients with germline MSH6 pathogenic variants without detectable second hits had indirect signs of deficient MSH6: one had a mismatch repair (MMR) deficient tumor, and the other (who had received neoadjuvant treatment with complete response before the tumor sampling) had a preoperative biopsy showing complete loss of MSH6 immunoreactivity, consistent with deficient MMR. Here, MSH6 is linked to neoplasm.