An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

We identified a three-generation Russian family with Lynch syndrome with a novel germline variant of the MSH6 gene. An 84-year-old female was diagnosed with endometrial adenocarcinoma at the age of 49 years. Her son was diagnosed with colorectal tubular adenoma at the age of 32 years.

[The development of polymerase chain reaction diagnostic of colorectal cancer based on DNA integrity separated from feces of patient.].

The article presents procedure of diagnostic of colorectal cancer on the basis of analysis of integrity of fecal DNA. The samples of stool were picked out in 91 patients and out of them: 60 patients with colorectal cancer, 24 healthy volunteers (control group) and 7 patients with benign tumors. The evaluation of integrity of genome DNA using technique of polymerase chain reaction analysis specified involvement of two long fragments - sites of genes TP53 and MLH1.

[Diagnostic values of polymerase chain reaction test in females with genital tuberculosis].

The previously offered procedure for detecting. Mycobacterium tuberculosis, which is based on the polymerase chain reaction (PCR), has been tested for diagnosing genital tuberculosis in females. PCR was used to examine endometrial curettage specimens in 44 patients with different nosological entities, which showed a high sensitivity (80%) and a high specificity in the diagnosis of genital tuberculosis.