PMC6013486_01
Clinical and laboratory information for the patient..  a Family tree of the patient (II-2). His father (I-1) and his elder sister (II-1) died from colon cancer and in association with uterine corpus cancer. b Immunohistochemistry testing for cancer tissue specimen showed negative staining for MLH1 and PMS2 but positive staining for MSH2 and MSH6. c Electropherogram of the Sanger sequence from the patient showing a single nucleotide (T) insertion in MLH1, c.1833-1834dup, changing codon 613 into a premature termination codon
41439_2018_13_Fig1_HTML.jpg
PMC6013486_01_41439_2018_13_Fig1_HTML.jpg
Fig1
His father (I-1) died of rectal cancer at 41 years of age, and his elder sister (II-1) died of cancer of the corpus uteri and rectal cancer at 42 years of age (Fig. 1a). First, immunohistochemistry testing was performed, and loss of MLH1 and PMS2 expression was determined (Fig. 1b). Finally, a possible pathogenic mutation, NM_000249.3 (MLH1_v001):c.1833dup [p.Val612Cysfs*2] (Fig. 1c), which leads to a premature termination codon, was identified (Fig. 1c).