There are at least three types of intratumoral genetic heterogeneity
type 1 involves mutations that distinguish one cell in a primary tumor from another cell of that same primary tumor;
type 2 involves mutations that distinguish one cell in a metastatic lesion from another cell in that same metastatic lesion;
type 3 involves mutations within the same primary tumor that distinguish the cell that initiates one metastasis from the cell that initiates another distinct metastasis
We sequenced 1,000 single cells from tumors in 12 patients and identified 1–3 major clonal subpopulations in each tumor that shared a common evolutionary lineage
On average, 83 single cells (range of 48–120) were sequenced from each patient with TNBC
Genomic profiling of 349 individual glands from 15 colorectal tumors
We exploited whole-genome SNP array–based copy number data derived from individual glands (7–10 per tumor; n = 127 total), left and right bulk tumor fragments
we performed whole-exome sequencing of the bulk tumor samples (left and right sides) and adjacent normal tissue from each of the adenomas and for carcinomas M, N, O, T, U and W. individual glands (n = 102) and the respective bulk tumor fragments (n = 20).
We evaluated copy number heterogeneity between physically adjacent single cells by FISH in a subset of tumor glands (n = 65) and adjacent normal glands (n = 22).
The copy number data are accessible via the ArrayExpress database under accession E-MTAB-2140. The sequence data are accessible via the ArrayExpress database under accession E-MTAB-2247. The methylation data are available via the NCBI BioProject database under accession PRJNA230833.
Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer
we carried out 60× whole-genome sequencing of 39 samples (26 metastatic lesions, up to 3 distinct regions of each primary tumor, and normal tissues) from four patients with pancreatic cancer.
We performed targeted sequencing on the original 39 samples used for whole-genome sequencing as well as 4 additional metastatic lesions from the same four patients.
数据在 ： EGAS00001002186.
We performed deep transcriptome sequencing (median 711× coverage), shallow whole genome sequencing (median 23× coverage), and aCGH copy number profiling on 25 high-risk primary prostate tumors, five matched adjacent-benign prostate tissues, and a patient-derived xenograft (PDX) originating from a needle biopsy of high-risk primary disease