通过比较基因组杂交技术在巴西人群BRCAX乳腺癌和卵巢癌中检测到的基因改变。

Genetic alterations detected by comparative genomic hybridization in BRCAX breast and ovarian cancers of Brazilian population.

作者信息

Felicio Paula Silva, Bidinotto Lucas Tadeu, Melendez Matias Eliseo, Grasel Rebeca Silveira, Campacci Natalia, Galvão Henrique C R, Scapulatempo-Neto Cristovam, Dufloth Rozany Mucha, Evangelista Adriane Feijó, Palmero Edenir Inêz

机构信息

Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.

Barretos School of Health Sciences-FACISB, Barretos, SP, Brazil.

出版信息

Oncotarget. 2018 Jun 8;9(44):27525-27534. doi: 10.18632/oncotarget.25537.

DOI:10.18632/oncotarget.25537

PMID:29938003

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6007956/

Abstract

BACKGROUND

About 5-10% of breast/ovarian cancers are hereditary. However, for a large proportion of cases (around 50%), the genetic cause remains unknown. These cases are grouped in a separated BRCAX category. The aim of this study was to identify genomic alterations in wild-type tumor samples from women with family history strongly suggestive of hereditary breast/ovarian cancer.

RESULTS

A cohort of 31 Brazilian women was included in the study. Using the GISTIC algorithm, we identified 20 regions with genomic gains and 31 with losses. The most frequent altered regions were 1q21.2, 6p22.1 and 8p23.3 in breast tumors and Xq26 and Xp22.32-22.31 among the ovarian cancer cases. An interesting association identified was the loss of 22q13.31-13.32 and the presence of ovarian cancer cases. Among the genes present in the frequently altered regions, we found , , , , , , and several genes of and family.

CONCLUSIONS

In conclusion, our results suggest that alterations on chromosomes 1, 6, 8 and X are common on BRCAX tumors and that the loss on 22q can be associated with the presence of ovarian cancer.

METHODS

DNA copy number alterations were analyzed by 60K array comparative genomic hybridization in breast and ovarian FFPE tumors.

摘要

背景

约5%-10%的乳腺癌/卵巢癌具有遗传性。然而，对于很大一部分病例（约50%），遗传病因仍不清楚。这些病例被归为一个单独的BRCAX类别。本研究的目的是在有强烈遗传性乳腺癌/卵巢癌家族史的女性的野生型肿瘤样本中鉴定基因组改变。

结果

本研究纳入了31名巴西女性队列。使用GISTIC算法，我们鉴定出20个基因组增加区域和31个基因组缺失区域。在乳腺肿瘤中，最常发生改变的区域是1q21.2、6p22.1和8p23.3，在卵巢癌病例中是Xq26和Xp22.32-22.31。鉴定出的一个有趣关联是22q13.31-13.32缺失与卵巢癌病例的存在。在频繁改变区域中存在的基因中，我们发现了、、、、、、以及几个家族和家族的基因。