Sault Area Hospital, Algoma District Cancer Program, Sault Ste. Marie, ON, Canada.
Section of Internal Medicine, Division of Clinical Sciences, Northern Ontario School of Medicine, Sudbury, ON, Canada.
Breast Dis. 2022;41(1):331-341. doi: 10.3233/BD-210047.
Losses of genetic material from chromosomes 5q and 16q commonly occur in sub-sets of breast cancer. Their significance from a pathophysiologic point of view is not well-defined.
This study uses publicly available genomic data from extensive breast cancer datasets to define the landscape of losses in chromosomal arms 5q and 16q in the two sub-types of breast cancer they most commonly occur, basal-like and luminal A cancers, respectively.
It is shown that dozens of genes from these chromosomal arms are putatively hemi-deleted in few samples each. No individual gene from either 5q or 16q shows an incidence of deep deletion above 10% in the cohorts with basal-like and luminal A cancers or in the whole cohorts. A few tumor suppressor genes are deleted in a small number of samples, less than 5% in each cohort. Losses of 5q or 16q confer no survival advantage in either the basal-like or the luminal A cohorts from TCGA that harbor them.
Results suggest that there are no individual genes in chromosomes 5q and 16q whose loss can be implicated in a dominant pathophysiologic sequence of events in breast cancer or its sub-sets.
染色体 5q 和 16q 的遗传物质丢失通常发生在乳腺癌的亚群中。从病理生理角度来看,它们的意义尚未明确。
本研究利用广泛的乳腺癌数据集的公开基因组数据,分别定义了基底样和 luminal A 型乳腺癌这两种亚型中最常见的染色体臂 5q 和 16q 的缺失情况。
结果表明,这些染色体臂上的数十个基因在每个样本中都被假定为半缺失。在基底样和 luminal A 型癌症的队列或整个队列中,没有单个基因来自 5q 或 16q 的缺失发生率超过 10%。少数肿瘤抑制基因在少数样本中缺失,每个队列中不到 5%。在 TCGA 中携带这些染色体臂的基底样和 luminal A 队列中,5q 或 16q 的缺失并不能带来生存优势。
结果表明,在乳腺癌或其亚群中,没有单个基因的丢失可以暗示主导的病理生理事件序列。