Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Portugal; Departamento de Bioengenharia e Instituto de Bioengenharia e Biociências, Instituto Superior Técnico, Universidade de Lisboa, Portugal; Associate Laboratory i4HB - Institute for Health and Bioeconomy, Instituto Superior Técnico, Universidade de Lisboa, Portugal.
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
Stem Cell Res. 2021 May;53:102364. doi: 10.1016/j.scr.2021.102364. Epub 2021 Apr 23.
Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line from a female donor harboring the Portuguese BRCA2 founder mutation. Skin fibroblasts were reprogrammed using a non-integrative Sendai virus. These iPSCs are a valuable tool to study the origin of BRCA2-associated cancer in its earliest phases.
携带有 BRCA2 基因突变的女性，其患癌风险会增加，主要是乳腺癌和卵巢癌。一种特殊的 BRCA2 突变（c.156_157insAlu）仅存在于葡萄牙裔家族中，约占所有遗传性乳腺癌和卵巢癌的葡萄牙家族的 30%。我们报告了首例携带有葡萄牙 BRCA2 突变的女性诱导多能干细胞系的建立和鉴定。皮肤成纤维细胞使用非整合性的仙台病毒进行重编程。这些 iPS 细胞是研究 BRCA2 相关癌症早期起源的宝贵工具。
