Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor
Albina A Avanesyan1,2, Anna P Sokolenko3,4, Alexandr O Ivantsov5
1Department of Endoscopy, City Cancer Center, Saint Petersburg, Russian Federation.
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.
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