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Retrospective analysis of The Two Sister Study using haplotype-based association testing to identify loci associated with early-onset breast cancer
medRxiv - Genetic and Genomic Medicine Pub Date : 2020-12-28 , DOI: 10.1101/2020.12.04.20244251
James R. Gilbert , James J. Cray , Joseph E. Losee , Gregory M. Cooper

Breast cancer is a polygenic disorder and is the leading cause of cancer related mortality among women. Early-onset breast cancer (EOBC) is diagnosed in women prior to 45 years-of-age and is associated with worse clinical outcomes, a more aggressive disease phenotype, and poor prognosis for disease-free survival. While substantial progress has been made in defining the genetics of breast cancer, EOBC remains less well understood. In the current study we perform a retrospective analysis of data derived from The Two Sister Study. The use of alternate strategies for handling age-at-diagnosis in conjunction with haplotype-based methods yielded novel findings that help to explain the heritability of EOBC. These findings are validated through comparison against discordant sibs from The Two Sister Study as well as using data derived The Cancer Genome Atlas (TCGA).

中文翻译:

使用基于单体型的关联测试对“两姐妹研究”进行回顾性分析,以鉴定与早发性乳腺癌相关的基因座

乳腺癌是一种多基因疾病,是妇女癌症相关死亡率的主要原因。早发乳腺癌(EOBC)在45岁之前的女性中被诊断出,并且与更差的临床结果,更具侵略性的疾病表型以及无病生存的不良预后有关。尽管在定义乳腺癌的遗传学方面已取得实质性进展,但对EOBC的了解仍较少。在当前的研究中,我们对来自“两姐妹研究”的数据进行回顾性分析。与基于单倍型的方法结合使用替代策略来处理诊断年龄的方法产生了新发现,有助于解释EOBC的遗传性。
更新日期:2020-12-28
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