Principles of Diagnosis and Personalized Treatment of Hereditary Colorectal Cancer

Цуканов, А. С.; Сергеевич, Цуканов Алексей; Shelygin, Yu. A.; Анатольевич, Шелыгин Юрий; Ачкасов, С. И.; Иванович, Ачкасов Сергей; Фролов, С. А.; Алексеевич, Фролов Сергей; Кашников, В. Н.; Николаевич, Кашников Владимир; Кузьминов, А. М.; Михайлович, Кузьминов Александр; Pikunov, D. Yu.; Юрьевич, Пикунов Дмитрий; Shubin, V. P.; Павлович, Шубин Виталий

doi:10.15690/vramn1083

Cited by 3 publications

(1 citation statement)

References 63 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To solve the rst problem (selection of patients), we developed our own criteria after rst 2 years of the clinical genetic study, sensitivity of which signi cantly exceeded the indicators of the revised recommendations of Bethesda and Amsterdam 2 [15].…”

Section: Discussionmentioning

confidence: 99%

Germline Variants of the MMR/EPCAM Genes in Russian Patients with Lynch Syndrome

Tsukanov,

Barinov,

Shubin

et al. 2023

Preprint

Self Cite

View full text Add to dashboard Cite

Lynch syndrome is the most common hereditary cancer syndrome caused by pathogenic variants in the MMR/EPCAM genes. The aim of this work was to study the germline variants of these genes in the largest sample of patients with Lynch syndrome in Russia. The study included all data on pathogenic and likely pathogenic variants in the MMR/EPCAM genes taken from the Center’s local Registry of hereditary forms of colorectal cancer. We analyzed all available data from 141 probands with Lynch syndrome: 78 men and 63 women aged 21 to 80 years who were treated in our Center from 2012 to 2023. The number of pathogenic and likely pathogenic variants found in the key genes were MLH1 – 69, MSH2 – 57, MSH6 – 10, EPCAM – 3, PMS2 – 1, PMS1 – 1. Among 141 germline variants, 17 (12.1%) were found for the first time: MLH1 – 8, MSH2 – 8, MSH6 – 1. Thirteen (9.2%) of the identified variants were related to large deletions/duplications. The most frequent pathogenic variants in the MLH1 gene were: c.1852_1854del (9 probands), c.350C>T (4) and c.1459C>T (3), and in the MSH2 gene: c.942+3A>T (9) and c.1288A>T (3). The results obtained have made it possible to establish the frequency and range of different types of germline variants in the MMR/EPCAM genes, which made it possible to optimize the algorithm for selection and diagnosing Russian patients with Lynch syndrome.

show abstract

Section: Discussionmentioning

confidence: 99%

Germline Variants of the MMR/EPCAM Genes in Russian Patients with Lynch Syndrome

Tsukanov,

Barinov,

Shubin

et al. 2023

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

Germline Variants Of The MMR/EPCAM Genes In Russian Patients With Lynch Syndrome

Tsukanov,

Barinov,

Shubin

et al. 2024

Russ Open Med J

View full text Add to dashboard Cite

Objective — Lynch syndrome is the most common hereditary cancer syndrome caused by pathogenic variants in the MMR/EPCAM genes. Our goal was to study the germline variants of these genes in the largest sample of patients with Lynch syndrome in Russia. Methods — The study included data on pathogenic and likely pathogenic variants in the MMR/EPCAM genes collected from the local Registry of Hereditary Colorectal Cancer of Ryzhikh National Medical Research Centre for Coloproctology (RNMRCC). We analyzed all available data on 141 probands with Lynch syndrome: 78 men and 63 women aged 21 to 80 years treated at RNMRCC from 2012 through 2023. Results — The numbers of pathogenic and likely pathogenic variants detected in the key genes were as follows MLH1 (69 probands), MSH2 (57), MSH6 (10), EPCAM (3), PMS2 (1), and PMS1 (1). Of the 141 germline variants, 17 (12.1%) were detected for the first time: MLH1 (8 probands) MSH2 (8), and MSH6 (1). Thirteen (9.2%) of the detected variants were associated with large deletions/duplications. The most frequent pathogenic variants in the MLH1 gene were c.1852_1854del (9 probands), c.350C>T (4), and c.1459C>T (3). The most frequent pathogenic variants in the MSH2 gene were c.942+3A>T (9 probands) and c.1288A>T (3). Conclusion — Our results allowed establishing the frequency and spectrum of different types of germline variants in the MMR/EPCAM genes, which helped optimize the algorithm for selecting and diagnosing Russian patients with Lynch syndrome.

show abstract

Juvenile polyposis in a family with «familial adenomatous polyposis» - an accidental find or a natural phenomenon?

et al. 2022

Self Cite

View full text Add to dashboard Cite

Aim: based on literature data and our own experience, to demonstrate the need for a meticulous family history harvesting in patients with suspected hereditary polyposis syndrome, as well as the importance of conducting a complex molecular genetic study. Materials and methods: the most known among hereditary polyposis syndromes is familial adenomatous polyposis (FAP).At the same time, according to the literature, one of the hamartomatous polyposis syndromes- juvenile polyposis - may mimic endoscopic picture of adenomatous polyposis. The article presents a clinical observation of a family whose members have been suspected of having FAP for several years, and only whole-exome sequencing helped to establish the diagnosis of juvenile polyposis syndrome. Results: based on the family history, as well as the clinical picture of the disease, which was somewhat unusual for FAP, the patient underwent whole-exome sequencing, which revealed a previously undescribed pathogenic variant in the SMAD4 gene - c.705dupA (p.Gly236ArgfsTer28). The presence of a similar mutation was also confirmed in 3 close relatives of the patient. Conclusion: taking into account the wide phenotypic variability of manifestations of juvenile polyposis, molecular genetic study of the SMAD4 and BMPR1A genes is of particular importancein patients with a clinic of adenomatous polyposis syndrome and the absence of mutations in the APC and MutYH genes.

show abstract

Principles of Diagnosis and Personalized Treatment of Hereditary Colorectal Cancer

Cited by 3 publications

References 63 publications

Germline Variants of the MMR/EPCAM Genes in Russian Patients with Lynch Syndrome

Germline Variants of the MMR/EPCAM Genes in Russian Patients with Lynch Syndrome

Germline Variants Of The MMR/EPCAM Genes In Russian Patients With Lynch Syndrome

Juvenile polyposis in a family with «familial adenomatous polyposis» - an accidental find or a natural phenomenon?

Contact Info

Product

Resources

About