Project: SRP320769
Organism: Homo sapiens
Study Title: Single-cell analysis of somatic mutation burden in mammary cells of patho
Center Name: ALBERT EINSTEIN COLLEGE OF MEDICINE, INC
Description: It remains unknown if inherited germline mutations in the BRCA1 or BRCA2 gene increase the risk of breast and ovarian cancer by elevating mutation rate in mammary cells. Here we show, using a single-cell whole genome sequencing approach, that mammary luminal epithelial cells isolated from tissues obtained from preventive mastectomy surgeries in women with a pathogenic BRCA1/2 germline mutation, exhibit a statistically significant, increased mutation frequency as compared to age-matched controls without genetic risk of breast cancer.
Cell Type: notcancer-mammary epithelial
Median Sequencing Depth: 0.000000
Publication: Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic?BRCA1/2?mutation carriers
DOI: 10.1172/JCI148113