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. Author manuscript; available in PMC: 2021 Sep 1.
Published in final edited form as: Pancreas. 2020 Sep;49(8):1014–1023. doi: 10.1097/MPA.0000000000001621

TABLE 1.

A Summary of Human Pancreatic Cancer Sequencing Studies

Study Frequency of Mutations Sample Size Sequencing Technique Evaluation of Tumor Cellularity
Alexandrov et al50 The median number of mutations per Mega base is 1, ranging from 0.1 to 10 mutations per Mega base (ie, 280 to 28,000 mutations per patient) ~120 Either whole genome sequencing (15 samples) and whole exome sequencing (the remaining samples).
Jones et al51 The average number of mutations detected per patient is 48 24 Microarrays-based exome sequencing: protein-coding exons from more than 20,000 genes were identified. Then, using microarrays containing probes for ~106 single-nucleotide polymorphisms, homozygous deletions and amplifications in the tumor samples were detected. To remove contaminating non-neoplastic cells, tumor samples were passaged in vitro as cell lines or in nude mice. Then, to validate somatic mutations, exons containing variant sequences were reamplified and resequenced from both tumor and normal tissues
Biankin et al19 The average number of mutations detected per patient is 26, ranging from 1 to 116. 99 Whole exome sequencing: using exome capturing and sequencing of different mixtures of cancer cell line and matched germline DNA as a standard, tumor samples with greater than 20% epithelial cellularity and/or ≥10 validated somatic mutations were included in the study. The average sequence depth was 26,608-fold, ranging from 609 to 213,544. The cellularity of each primary sample was estimated through pathological review, deep amplicon-based sequencing of exons 2 and 3 of KRAS and single nucleotide polymorphism (SNP) array-based cellularity estimates.
Balachandran et al, the MSKCC cohort52 The median number of mutations detected per patient is 171

The median number of neoantigen-related mutations detected per patient is 38
58 Whole exome sequencing: whole exome sequencing was performed at 150× coverage for tumor samples and 70× for matched normal Only tumor islands of more than 70% cellularity were included in the study based on expert PDAC pathologic review.
Balachandran et al, the ICGC cohort52 The median number of mutations detected per is 135

The median number of neoantigen-related mutations detected per patient is 32
166 Either whole genome sequencing or whole exome sequencing: primary tumors and patient-derived cell lines with more than 40% cellularity underwent whole genome sequencing at 75× mean coverage. Samples with 12–40% cellularity underwent deep-exome sequencing at 400× mean coverage. Tumor cellularity was estimated for each sample using a combination of qPure analysis and KRAS amplicon sequencing.
Waddell et al54 The average number of mutations per Mega base is 2.64, ranging from 0.65 to 28.2 mutations per Mega base (ie, 1820 to 78,960 mutations per patient) 100 Whole-genome sequencing:
Tumor samples with more than 40% cellularity and patient-derived cell lines whole genome sequencing at 65× mean coverage and compared to the germline at an average coverage of 38×
Tumor cellularity was estimated for each sample using qPure analysis
Bailey et al41 The median number of coding mutations detected per patient is 62

The number of neoantigen-related mutations detected per sample ranges from 4 to 4000
456 Either whole genome sequencing or whole exome sequencing: primary tumors and patient-derived cell lines with more than 40% cellularity underwent whole genome sequencing at 75× mean coverage. Samples with 12–40% cellularity underwent deep-exome sequencing at 400× mean coverage. Tumor cellularity was estimated for each sample using a combination of qPure analysis and KRAS amplicon sequencing.
Bailey et al65