Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.

IF 3 3区医学 Q2 ONCOLOGY

Breast Cancer Research and Treatment Pub Date : 2024-12-20 DOI:10.1007/s10549-024-07576-4

Luciana Berlanga, Vanesa Lotersztein, Eliseo I Aranda, Roxana Cerretini

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引用次数: 0

Abstract

Purpose: Among women in Argentina, the most common cancer is breast cancer (BC) with 21,631 new cases and 6436 deaths per year. The ovarian cancer (OC) is fifteenth in frequency. The contribution of cancer-related large genomic rearrangements (LGRs) of the BRCA1/BRCA2 genes and the 1100delC allelic variant in the CHEK2 gene has not yet been widely studied in our population.

Methods: LGRs in the BRCA1/BRCA2 genes and the CHEK2 1100delC variant were analyzed using the MLPA technique in 85 unselected Argentinian BC/OC patients.

Results: A pathogenic genetic variant (PV) was found in eleven out of 85 (12,9%) patients, 10 were LGRs in the BRCA1 gene, 9 deletions and one duplication and one the CHEK2 1100delC. Large deletions of exons 1-2 and 15 in BRCA1 gene were recurrent anomalies in our series.

Conclusions: LGRs in the BRCA1 gene contributed significantly to the burden of PVs responsible for the development of BC and OC in our study population. On the other hand, the 1100delC variant in CHEK2 was observed at a very low frequency in our series formed mainly by the Spanish, Italian and Amerindian ethnic groups.

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阿根廷人群中 BRCA1/2 基因的大基因组重排和 CHEK2 1100delC 等位基因变异对乳腺癌/卵巢癌发病的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Breast Cancer Research and Treatment 医学-肿瘤学

CiteScore

6.80

自引率

2.60%

发文量

342

审稿时长

1 months

期刊介绍： Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.