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Pathobiology : journal of immunopathology, molecular and cellular biology · 2020

Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.

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Avanesyan Albina A, Sokolenko Anna P, Ivantsov Alexandr O, Kleshchev Maxim A, Maydin Mikhail A, Bizin Ilya V, Raskin Grigory A, Shelekhova Ksenia V, Gorodnova Tatiana V, Bessonov Alexandr A, Anisimova Elena I, Volynshchikova Olga A, Romanko Alexandr A, Ni Valeria I, Broyde Robert V, Tkachenko Oleg B, Whitehead Aldon J, Scherbakov Alexandr M, Imyanitov Evgeny N

Аннотация

INTRODUCTION: There is some evidence suggesting a link between BRCA1/2 germline mutations and increased risk of gastric cancer.

METHODS: Endoscopic screening for stomach malignancies was performed in 120 BRCA1 mutation carriers in order to evaluate the probability of detecting the tumor disease.

RESULTS: No instances of gastric cancer were revealed at the first visit. The analysis of atrophic changes performed by OLGA (Operative Link for Gastritis Assessment) criteria revealed that OLGA stages I-IV alterations were observed in 26 of 41 (63%) subjects aged >50 years as compared to 29 of 79 (37%) in younger subjects (p = 0.007, χ2 test). One BRCA1 mutation carrier developed gastric cancer 4 years after the first visit for endoscopic examination. We performed next-generation sequencing analysis for this tumor and additional 4 archival gastric cancers obtained from BRCA1/2 mutation carriers. Somatic loss of the remaining BRCA1/2 allele was observed in 3 out of 5 tumors analyzed; all of these carcinomas, but none of the malignancies with the retained BRCA1/2 copy, showed chromosomal instability.

CONCLUSION: Taken together, these data justify further studies on the relationships between the BRCA1/2 and gastric cancer.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты