Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.
Atrophic gastritis
Endoscopy
Gastric cancer
Mutation
Screening
Journal
Pathobiology : journal of immunopathology, molecular and cellular biology
ISSN: 1423-0291
Titre abrégé: Pathobiology
Pays: Switzerland
ID NLM: 9007504
Informations de publication
Date de publication:
2020
2020
Historique:
received:
21
05
2020
accepted:
28
08
2020
pubmed:
9
11
2020
medline:
16
7
2021
entrez:
8
11
2020
Statut:
ppublish
Résumé
There is some evidence suggesting a link between BRCA1/2 germline mutations and increased risk of gastric cancer. Endoscopic screening for stomach malignancies was performed in 120 BRCA1 mutation carriers in order to evaluate the probability of detecting the tumor disease. 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. Taken together, these data justify further studies on the relationships between the BRCA1/2 and gastric cancer.
Identifiants
pubmed: 33161400
pii: 000511323
doi: 10.1159/000511323
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
367-374Informations de copyright
© 2020 S. Karger AG, Basel.