Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Cancer Genomics Laboratory, National Institute of Genomic Medicine, México City, Mexico.
Nat Commun. 2021 Apr 14;12(1):2245. doi: 10.1038/s41467-021-22478-5.
Breast cancer is a heterogeneous pathology, but the genomic basis of its variability remains poorly understood in populations other than Caucasians. Here, through DNA and RNA portraits we explored the molecular features of breast cancers in a set of Hispanic-Mexican (HM) women and compared them to public multi-ancestry datasets. HM patients present an earlier onset of the disease, particularly in aggressive clinical subtypes, compared to non-Hispanic women. The age-related COSMIC signature 1 was more frequent in HM women than in those from other ancestries. We found the AKT1 hotspot mutation in 8% of the HM women and identify the AKT1/PIK3CA axis as a potentially druggable target. Also, HM luminal breast tumors present an enhanced immunogenic phenotype compared to Asiatic and Caucasian tumors. This study is an initial effort to include patients from Hispanic populations in the research of breast cancer etiology and biology to further understand breast cancer disparities.
乳腺癌是一种异质性疾病，但除白种人以外的其他人群中，其变异的基因组基础仍知之甚少。在这里，我们通过 DNA 和 RNA 图谱，研究了一组西班牙裔-墨西哥裔（HM）女性乳腺癌的分子特征，并将其与公开的多血统数据集进行了比较。与非西班牙裔女性相比，HM 患者的疾病发病年龄更早，尤其是在侵袭性临床亚型中。与其他血统的女性相比，HM 女性中更常见与年龄相关的 COSMIC 特征 1。我们在 8%的 HM 女性中发现了 AKT1 热点突变，并确定了 AKT1/PIK3CA 轴是一个潜在的可用药靶点。此外，与亚洲和白种人肿瘤相比，HM 腔面型乳腺癌表现出更强的免疫原性表型。这项研究是将西班牙裔人群纳入乳腺癌病因和生物学研究的初步尝试，以进一步了解乳腺癌的差异。
