Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA.
Greenstone Bioscience, Palo Alto, CA 94304, USA.
Stem Cell Res. 2023 Oct;72:103219. doi: 10.1016/j.scr.2023.103219. Epub 2023 Oct 2.
Germline pathogenic variants in the BRCA2 gene are strongly correlated with an elevated risk of developing breast cancer. Two specific BRCA2 variants, c.8167G>C (p.Asp2723His) and c.1583del (p.Asn528fs), have been identified from individuals with a family history of breast cancer. Here we generated two iPSC lines from breast cancer patients who are heterozygous carriers of these two variants. These iPSCs exhibit pluripotency and demonstrate the capability to differentiate into three germ layers. These iPSC lines represent a valuable resource for personalized pre-clinical research, offering new opportunities to explore the underlying mechanisms of breast cancer and develop targeted therapeutic approaches.
BRCA2 基因中的种系致病性变异与乳腺癌发病风险升高密切相关。已经从有乳腺癌家族史的个体中鉴定出两个特定的 BRCA2 变异,c.8167G>C(p.Asp2723His)和 c.1583del(p.Asn528fs)。在这里,我们从这两种变体的杂合携带者的乳腺癌患者中生成了两个 iPSC 系。这些 iPSC 表现出多能性,并证明能够分化为三个胚层。这些 iPSC 系代表了个性化临床前研究的宝贵资源,为探索乳腺癌的潜在机制和开发靶向治疗方法提供了新的机会。