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. 2020;87(6):367-374.
doi: 10.1159/000511323. Epub 2020 Nov 6.

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

Albina A Avanesyan  1   2 , Anna P Sokolenko  3   4 , Alexandr O Ivantsov  5 , Maxim A Kleshchev  5 , Mikhail A Maydin  6 , Ilya V Bizin  5 , Grigory A Raskin  7 , Ksenia V Shelekhova  8 , Tatiana V Gorodnova  9 , Alexandr A Bessonov  10 , Elena I Anisimova  11 , Olga A Volynshchikova  12 , Alexandr A Romanko  5 , Valeria I Ni  5 , Robert V Broyde  1 , Oleg B Tkachenko  2 , Aldon J Whitehead  13 , Alexandr M Scherbakov  2 , Evgeny N Imyanitov  5   14   15
Affiliations

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

Albina A Avanesyan et al. Pathobiology. 2020.

Abstract

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.

Keywords: Atrophic gastritis; Endoscopy; Gastric cancer; Mutation; Screening.

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