Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.
Pathobiology
; 87(6): 367-374, 2020.
Article
in En
| MEDLINE
| ID: mdl-33161400
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Stomach Neoplasms
/
Mass Screening
/
Germ-Line Mutation
/
BRCA1 Protein
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Pathobiology
Journal subject:
PATOLOGIA
Year:
2020
Type:
Article