OncoScan® FFPE Assay Kit peer-reviewed publications
by cancer type or site
Bile Ducts/Cholangiocarcinoma
Arnold A., et al. Genome wide DNA copy number analysis in cholangiocarcinoma using high resolution molecular
inversion probe single nucleotide polymorphism assay. Experimental and Molecular Pathology 99(2):344–353
(2015).
Bladder
Shapiro S. G., et al. Canine urothelial carcinoma: genomically aberrant and comparatively relevant.
Chromosome Research 23(2):311–331 (2015).
Bambury R. M., et al. DNA copy number analysis of metastatic urothelial carcinoma with comparison to primary
tumors. BMC Cancer 15:242 (2015).
Guancial E. A., et al. FGFR3 expression in primary and metastatic urothelial carcinoma of the bladder. Cancer
Medicine 3(4):835–844 (2014).
Togneri F. S., et al. Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA.
European Journal of Human Genetics (2016). doi:10.1038/ejhg.2015.281
Chekaluk Y., et al. Identification of Nine Genomic Regions of Amplification in Urothelial Carcinoma, Correlation
with Stage, and Potential Prognostic and Therapeutic Value. PLoS ONE 8(4):e60927 (2013).
Riester M., et al. Integrative Analysis of 1q23.3 Copy-Number Gain in Metastatic Urothelial Carcinoma. Clinical
Cancer Research 20(7):1873–1883 (2014).
Blood/Haematologic
Schoumans, J., et al. Guidelines for Genomic Array Analysis in Acquired Haematological Neoplastic Disorders.
Genes, Chromosomes and Cancer 55(5):480–491 (2016).
Bone/Osteosarcoma
Jahromi M. S., Jones K. B., Schiffman J. D. Copy Number Alterations and Methylation in Ewing's Sarcoma.
Sarcoma 2011:362173 (2011).
Jahromi M. S., et al. Molecular inversion probe analysis detects novel copy number alterations in Ewing
sarcoma. Cancer Genetics 205:391e404 (2012).
Jour G., et al. The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular
biomarker study. The Journal of Pathology: Clinical Research 2(1):9–20 (2016).
Ribi S., et al. TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause LiFraumeni syndrome. Oncotarget 6(10):7727–7740 (2015).
Brain/Astrocytoma/Gliomas
Ho, C-Y, et al. A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.
Acta Neuropathologica 130(4):575-585 (2015).
van den Bent M. J., et al. Changes in the EGFR amplification and EGFRvIII expression between paired primary
and recurrent glioblastomas. Neuro Oncology 17(7): 935–941 (2015).
Page 1 of 8
Ruland V., et al. Choroid plexus carcinomas are characterized by complex chromosomal alterations related to
patient age and prognosis. Genes, Chromosomes and Cancer 53(5):373–380 (2014).
Xu J., et al. Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without
Fanconi Anemia. Frontiers in Oncology 5:191 (2015).
Cohen A., et al. DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in
molecular ontogeny including chromothripsis associated with IDH mutation status Acta Neuropathologica
Communications 3:34 (2015).
Xu M., et al. Extensive therapies for extraneural metastases from glioblastoma, as confirmed with the OncoScan
assay. World Neurosurgery 90:698.e7–698.e11 (2016).
Lovvorn III, H. N., et al. Genetic and chromosomal alterations in Kenyan Wilms Tumor. Genes, Chromosomes
and Cancer 54(11):702–715 (2015).
Marco G., et al. Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and
Desmoplastic Infantile Gangliogliomas. Journal of Neuropathology & Experimental Neurology 72(9):807–815
(2013).
Japp A. S., et al. High-Resolution Genomic Analysis Does Not Qualify Atypical Plexus Papilloma as a Separate
Entity Among Choroid Plexus Tumors. Journal of Neuropathology & Experimental Neurology 7(2):110–120
(2015).
Schittenhelm J., Integrated Diagnostic Approach for Adult Oligodendroglioma and Oligoastrocytoma
Brain Disorders & Therapy 4(4):187 (2015).
Merino D. M., et al. Molecular Characterization of Choroid Plexus Tumors Reveals Novel Clinically Relevant
Subgroups. Clinical Cancer Research 21(1):184–192 (2015).
Gessi M., et al. Molecular characterization of disseminated pilocytic astrocytomas. Neuropathology and Applied
Neurobiology 42(3):273–278 (2016).
Goschzik T., et al. Molecular stratification of medulloblastoma: Comparison of histological and genetic methods
to detect Wnt activated tumors. Neuropathology and Applied Neurobiology 41(2):135–144 (2015).
Singh N., et al. Multiomics approach showing genome-wide copy number alterations and differential gene
expression in different types of North-Indian pediatric brain tumors. Gene 576( 2, Pt 2): 734–742 (2016).
Küsters-Vandevelde, H. V. N., et al. Mutations in G Protein Encoding Genes and Chromosomal Alterations in
Primary Leptomeningeal Melanocytic Neoplasms. Pathology & Oncology Research 21(2): 439–447 (2015).
Paxton C. N., Rowe L. R., South S. T. Observations of the genomic landscape beyond 1p19q deletions and EGFR
amplification in glioma. Molecular Cytogenetics 8:60 (2015).
Nakae S., et al. PCR-Based Simple Subgrouping Is Validated for Classification of Gliomas and Defines Negative
Prognostic Copy Number Aberrations in IDH Mutant Gliomas. PLoS ONE 10(11): e0142750 (2015).
Li X., et al. Two mature products of MIR-491 coordinate to suppress key cancer hallmarks in glioblastoma.
Oncogene 34:1619–1628 (2015).
Breast
Huw L-Y., et al. Acquired PIK3CA amplification causes resistance to selective phosphoinositide 3-kinase
inhibitors in breast cancer. Oncogenesis 2:e83 (2013).
Zhang L., et al. Bayesian hierarchical structured variable selection methods with application to molecular
inversion probe studies in breast cancer. Journal of the Royal Statistical Society: Series C (Applied Statistics)
63(4):595–620 (2014).
Muller K. E., et al. Benign phyllodes tumor of the breast recurring as a malignant phyllodes tumor and spindle
cell metaplastic carcinoma. Human Pathology 46(2):327–333 (2015).
Page 2 of 8
Hagelstrom R. T., et al. Breast Cancer and Non-Hodgkin Lymphoma in a Young Male with Cowden Syndrome.
Pediatric Blood & Cancer 63(3):544–546 (2016).
Tan W. J., et al. CD117 expression in breast phyllodes tumors correlates with adverse pathologic parameters
and reduced survival Modern Pathology 28:352–358 (2015).
Chen K., et al. Clinical Actionability Enhanced through Deep Targeted Sequencing of Solid Tumors Clinical
Chemistry 61(3):544-553 (2015).
Gorringe K. L., et al. Copy number analysis of ductal carcinoma in situ with and without recurrence Modern
Pathology 28:1174–1184 (2015).
Liu Y., et al. Genomic copy number imbalances associated with bone and non-bone metastasis of early-stage
breast cancer Breast Cancer Research and Treatment 143(1):189–201 (2014).
Manié E., et al. Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas
International Journal of Cancer 138(4):891–900 (2016).
Valdez K. E., et al. Human primary ductal carcinoma in situ (DCIS) subtype-specific pathology is preserved in a
mouse intraductal (MIND) xenograft model. Journal of Pathology 225(4):565–573 (2011).
Johnson C. E., et al. Identification of copy number alterations associated with the progression of DCIS to
invasive ductal carcinoma. Breast Cancer Research and Treatment 133(3):889–898 (2012).
Thompson P.A., et al. Loss of LRIG1 Locus Increases Risk of Early and Late Relapse of Stage I/II Breast Cancer
Cancer Research 74(11):2928–2935 (2014).
Takano E. A., et al. Low-grade fibromatosis-like spindle cell carcinomas of the breast are molecularly exiguous.
Journal of Clinical Pathology 68:362–367 (2015).
Bousamra A., et al. Molecular Inversion Probe Technology Generates High-Quality HER2 Copy Number Data in
Formalin-Fixed Paraffin-Embedded Breast Cancer Tissue Journal of Cancer & Clinical Oncology 1(1) (2015).
Tan W. J., et al. Novel genetic aberrations in breast phyllodes tumours: comparison between prognostically
distinct groups. Breast Cancer Research Treatment 145(3):635–645 (2014).
Bidard F. C., et al. Response to dual HER2 blockade in a patient with HER3-mutant metastatic breast cancer.
Annals of Oncology 26(8):1704–1709 (2015).
Schouten P. C., et al. Robust BRCA1-like classification of copy number profiles of samples repeated across
different datasets and platforms Molecular Oncology 9(7):1274–1286 (2015).
Burkitt Lymphoma
Schiffman J. D., et al. Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed
tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression. British
Journal of Haematology 155(4):477–486 (2011).
Leventaki V., et al. TP53 pathway analysis in paediatric Burkitt lymphoma reveals increased MDM4 expression
as the only TP53 pathway abnormality detected in a subset of cases. British Journal of Haematology
158(6):763–771 (2012).
Central Nervous System
Gessi M., et al. H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system
(CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications? Journal of NeuroOncology 112(1):67–72 (2013).
Gessi, M., et al. High-Resolution Genomic Analysis of Cribriform Neuroepithelial Tumors of the Central Nervous
System Journal of Neuropathology & Experimental Neurology 74(10):970–974 (2015).
Gessi M., et al. MYCN amplification predicts poor outcome for patients with supratentorial primitive
neuroectodermal tumors of the central nervous system. Neuro-Oncology 16(7):924–932 (2014).
Page 3 of 8
Colon/Colorectal
Xie T., et al. A comprehensive characterization of genome-wide copy number aberrations in colorectal cancer
reveals novel oncogenes and patterns of alterations. PLoS One 7(7):e42001 (2012).
Bellido F., et al. Comprehensive molecular characterisation of hereditary non-polyposis colorectal tumours with
mismatch repair proficiency European Journal of Cancer 50(11):1964–1972 (2014).
de Voer R. M., et al. Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer
Scientific Report 5:14060 (2015).
Richman S. D., et al. HER2 overexpression and amplification as a potential therapeutic target in colorectal
cancer: Analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials The
Journal of Pathology 238(4):562–570 (2016).
Hardiman K. M., et al. Intra-tumor genetic heterogeneity in rectal cancer Laboratory Investigation 96:4–15
(2016).
Beggs A. D., et al. Loss of Expression and Promoter Methylation of SLIT2 Are Associated with Sessile Serrated
Adenoma Formation PLoS Genetics 9(5) e1003488 (2013).
Kopetz S., et al. Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal
Cancer Journal of Clinical Oncology (2015). doi:10.1200/JCO.2015.63.2497
Mao M., et al. Resistance to BRAF Inhibition in BRAF-Mutant Colon Cancer Can Be Overcome with PI3K
Inhibition or Demethylating Agents Clinical Cancer Research 19(3):657–667 (2013).
Gastrointestinal
Belinsky M. G., et al. Overexpression of insulin-like growth factor 1 receptor and frequent mutational
inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. Genes, Chromosomes and
Cancer 52(2):214–224 (2013).
Germ Cell Tumors
Subbiah V., et al. Next generation sequencing analysis of platinum refractory advanced germ cell tumor
sensitive to Sunitinib (Sutent®) a VEGFR2/PDGFRβ/c-kit/ FLT3/RET/CSF1R inhibitor in a phase II trial Journal of
Hematology & Oncology 7:52 (2014).
Kidney
Hasselblatt M., et al. High-resolution genomic analysis suggests the absence of recurrent genomic alterations
other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer 52(2):185–
190 (2013).
Langerhans Cells
Karai, L. J., et al. Langerhans Cell Sarcoma With Lineage Infidelity/Plasticity: A Diagnostic Challenge and Insight
Into the Pathobiology of the Disease American Journal of Dermatopathology 37(11):854–861 (2015).
Liver
Shastri A., et al. Primary Hepatic Small Cell Carcinoma: Two Case Reports, Molecular Characterization and
Pooled Analysis of Known Clinical Data Anticancer Research 36(1):271–277 (2016).
Lung
Jedrzkiewicz J., et al. Congenital peribronchial myofibroblastic tumor: Case report and review of literature
Journal of Pediatric Surgery Case Reports 3(4):154–157 (2015).
Araujo L. H., et al. Genomic Characterization of Non–Small-Cell Lung Cancer in African Americans by Targeted
Massively Parallel Sequencing Journal of Clinical Oncology 33(17):1966–1973 (2015).
Page 4 of 8
Lymphoid Tissue/Lymphoma
Salaverria I., et al. High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and
follicular lymphomas. Genes Chromosomes Cancer 52(2):150–155 (2013).
Sebastián E., et al. High-resolution copy number analysis of paired normal-tumor samples from diffuse large B
cell lymphoma. Annals of Hematology 95(2):253–262 (2016).
Waanders E., et al. Independent development of lymphoid and histiocytic malignancies from a shared early
precursor. Leukemia 30(4):955–958 (2016).
Yoon H., et al. Integrated copy number and gene expression profiling analysis of epstein–barr virus-positive
diffuse large b-cell lymphoma. Genes, Chromosomes and Cancer 54(6):383–396 (2015).
Martin-Guerrero I., et al. Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4
translocation negative pediatric follicular lymphomas. Haematologia 98:1237–1241 (2013).
Melanoma
Wang L., et al. Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic
Schwannomas from Melanomas: SNP-array and next generation sequencing analysis Genes, Chromosomes and
Cancer 54(8):463–471 (2015).
Chandler W. M., et al. Differentiation of malignant melanoma from benign nevus using a novel genomic
microarray with low specimen requirements. Archives of Pathology & Laboratory Medicine 136(8):947–955
(2012).
Chan M. P., et al. Genomic copy number analysis of a spectrum of blue nevi identifies recurrent aberrations of
entire chromosomal arms in melanoma ex blue nevus Modern Pathology 29:227–239 (2016).
Anaka M., et al. Intratumoral genetic heterogeneity in metastatic melanoma is accompanied by variation in
malignant behaviors. BMC Medical Genomics 6:40 (2013).
Harris K., et al. Melanoma mimic: a case of multiple pagetoid Spitz nevi. Archives of Dermatology 148:370–374
(2012).
Nguyen, T. L. T., et al. Mitotically Active Proliferative Nodule Arising in a Giant Congenital Melanocytic Nevus: A
Diagnostic Pitfall. American Journal of Dermatopathology 35(1):e16–e21 (2013).
Gandolfi G., et al. The extent of whole-genome copy number alterations predicts aggressive features in primary
melanomas. Pigment Cell & Melanoma Research 29(2):163–175 (2016).
Lu C., et al. The Genomic Landscape of Childhood and Adolescent Melanoma Journal of Investigative
Dermatology 135(3):816–823 (2015).
van Engen-van Grunsven, A. C. H., et al. Whole-genome copy-number analysis identifies new leads for
chromosomal aberrations involved in the oncogenesis and metastastic behavior of uveal melanomas. Melanoma
Research 25(3):200–209 (2015).
Mesothelioma
Cheung M., et al. An asbestos-exposed family with multiple cases of pleural malignant mesothelioma without
inheritance of a predisposing BAP1 mutation. Cancer Genetics 208(10):502–507 (2015).
Cheung M., et al. Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a
potential gene–environment interaction. Cancer Letters 369(2):261–265 (2015).
Neuroblastoma
Pinto N., et al. Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in FormalinFixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence. Pediatric Blood & Cancer
63(6):1019–1023 (2016).
Page 5 of 8
Ovary
Hunter S. M., et al. Copy Number Aberrations in Benign Serous Ovarian Tumors: A Case for Reclassification?
Clinical Cancer Research 17:7273–7282 (2011).
Geiersbach K. B., et al. FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of
the ovary. Cancer Genetics 204(11):596–602 (2011).
Skirnisdottir I., et al. Loss-of-heterozygosity on chromosome 19q in early-stage serous ovarian cancer is
associated with recurrent disease. BMC Cancer 12(1):407 (2012).
Lavrut P-M., et al. Small cell carcinoma of the ovary, hypercalcemic type/ ovarian malignant rhabdoid tumor:
report of a bilateral case in a teenager associated with SMARCA4 germline mutation. Pediatric and
Developmental Pathology 19(1):56–60 (2016).
Pineal Tumors
Heim S., et al. Papillary tumor of the pineal region: A distinct molecular entity. Brain Pathology 26(2):199–205
(2016).
Goschzik T., et al. PTEN Mutations and Activation of the PI3K/Akt/mTOR Signaling Pathway in Papillary Tumors
of the Pineal Region. Journal of Neuropathology & Experimental Neurology 73(8):747–751 (2014).
Prostate
Pearlman A., et al. Clustering-Based Method for Developing a Genomic Copy Number Alteration Signature for
Predicting the Metastatic Potential of Prostate Cancer. Journal of Probability and Statistics 2012:873570 (2012).
OncoScan® FFPE Assay Kit not mentioned in article; authors acknowledge using OncoScan® FFPE Assay Kit in
BioArray News, 23 Oct 2012
Aparicio A. M., et al. Combined Tumor Suppressor Defects Characterize Clinically Defined Aggressive Variant
Prostate Cancers. Clinical Cancer Research 22(6):1520–1530 (2016).
Risbridger G. P., et al. Patient-derived Xenografts Reveal that Intraductal Carcinoma of the Prostate Is a
Prominent Pathology in BRCA2 Mutation Carriers with Prostate Cancer and Correlates with Poor Prognosis.
European Urology 67(3):496–503 (2015).
Boutros P.C., et al. Spatial genomic heterogeneity within localized, multifocal prostate cancer. Nature Genetics
47:736–745 (2015).
Renal/Kidney
Calderaro J., et al. Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in
Renal Medullary Carcinomas. European Urology 69(6):1055–1061 (2016).
Alexiev B. A., Ying S. Zou Y. S. Clear cell papillary renal cell carcinoma: A chromosomal microarray analysis of
two cases using a novel Molecular Inversion Probe (MIP) technology. Pathology - Research and Practice
210(12):1049-1053 (2014).
Trpkov K., et al. Eosinophilic, Solid, and Cystic Renal Cell Carcinoma: Clinicopathologic Study of 16 Unique,
Sporadic Neoplasms Occurring in Women. American Journal of Surgical Pathology 4(1):60–71 (2016).
Singh N., et al. Retrospective analysis of FFPE based Wilms' Tumor samples through Copy Number and Somatic
Mutation related Molecular Inversion Probe Based Array. Gene 565(2): 295–308 (2015).
Skeletal Muscle/Rhabdomyosarcoma
Kohsaka S., et al. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of
embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nature Genetics 46:595–600
(2014).
Page 6 of 8
Skin
Harms P. W., et al. Cutaneous basal cell carcinosarcomas: evidence of clonality and recurrent chromosomal
losses. Human Pathology 46(5):690–697 (2015).
Verneuil L., et al. Human skin carcinoma arising from kidney transplant–derived tumor cells. Journal of Clinical
Investigation 123(9):3797–3801 (2013).
Spleen
Xu L., et al. Well-differentiated angiosarcoma of spleen: a teaching case mimicking hemagioma and cytogenetic
analysis with array comparative genomic hybridization. World Journal of Surgical Oncology 13:300 (2015).
Squamous Cell Carcinoma
Lee C. S., et al. Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell
carcinoma. Nature Genetics 46:1060–1062 (2014).
Synovial Sarcoma
Vlenterie M., et al. Next generation sequencing in synovial sarcoma reveals novel gene mutations. Oncotarget
6(33):34680–34690 (2015).
Thoracic Neoplasms
Le Loarer F., et al. SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies
transcriptionally related to BAF-deficient sarcomas. Nature Genetics 47:1200–1205 (2015).
Uterus/Endometrial
Hunter S. M., et al. Genomic Aberrations of BRCA1-Mutated Fallopian Tube Carcinomas. The American Journal
of Pathology 184(6):1871–1876 (2014).
Chao A., et al. Molecular characteristics of endometrial cancer coexisting with peritoneal malignant
mesothelioma in Li-Fraumeni-like syndrome. BMC Cancer 15:8 (2015).
Holzmann C., et al. Patterns of Chromosomal Abnormalities that Can Improve Diagnosis of Uterine Smooth
Muscle Tumors. Anticancer Research 35(12):6445–6456 (2015).
Methods
Krijgsman O., et al. CGH arrays compared for DNA isolated from formalin-fixed, paraffin-embedded material.
Genes, Chromosomes and Cancer 51(4):344–352 (2012).
Singh R. R., et al. Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes
for mutations and copy number variations in solid tumors. British Journal of Cancer 111:2014–2023 (2014).
Hubaux R., et al. Comparative Genomic Hybridization and Array Based CGH in Cancer [chapter 3]
in Molecular Testing in Cancer, eds. G. M. Yousef, S. Jothy (New York: Springer), 27–37 (2014).
Foster J. M., et al. Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome
tumour profiling. BMC Medical Genomic 8:5 (2015).
Hosein A. N., et al. Evaluating the repair of DNA derived from formalin-fixed paraffin-embedded tissues prior to
genomic profiling by SNP–CGH analysis. Laboratory Investigation 93:701–710 (2013).
Shen R., Seshan V. FACETS: Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing.
Memorial Sloan-Kettering Cancer Center, Dept. of Epidemiology & Biostatistics Working Paper Series. Working
Paper 29 (n.d.).
Mirza M. K., et al. Genomic Aberrations in Myeloid Sarcoma without Blood or Bone Marrow Involvement:
Characterization of Formalin-Fixed Paraffin-Embedded Samples by Chromosomal Microarrays. Leukemia
Research 38(9):1091–1096 (2014).
Page 7 of 8
Piqueret-Stephan L., et al. Massively parallel DNA sequencing from routinely processed cytological smears.
Cancer Cytopathology 124(4):241–253 (2016).
Gentien D., Reyes C. Microarrays-Based Molecular Profiling to Identify Genomic Alterations [chapter 4]
in Pan-Cancer Integrative Molecular Portrait Towards a New Paradigm in Precision Medicine, eds. C. Le
Tourneau, M. Kamal (Switzerland: Springer), 31–45 (2015).
Albertson D. G. Molecular Genetics Methods in Discovery of Chromosome Structure [chapter 2] in Chromosomal
Translocations and Genome Rearrangements in Cancer, eds. J. D. Rowley, M. M. Le Beau, T. H. Rabbitts
(Switzerland: Springer), 15–25 (2015).
Busacca S., et al. Resistance to HSP90 inhibition involving loss of MCL1 addiction Oncogene 35:1483–1492
(2016).
Chong L. C., et al. SeqControl: process control for DNA sequencing. Nature Methods 11:1071–1075 (2014).
Elizabeth C. Chastain, E. C. Targeted Hybrid Capture Methods [chapter 3], in Clinical Genomics, ed. S. Kulkarni,
et al. (Amsterdam: Academic Press), 37–55 (2015).
Birkbak N. J., et al. Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging
agents. Cancer Discovery 2:366 (2012).
Park J. H., et al. Universal probe amplification: Multiplex screening technologies for genetic variations.
Biotechnology Journal [special issue: Biotech Methods and Advances] 10(1):45–55 (2015).
Zahir F. R., Marra M. A. Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation
Current Protocols in Human Genetics Unit 8.13 (2015).
Reviews
Hasty P., Montagna C. Chromosomal rearrangements in cancer: detection and potential causal mechanisms.
Molecular & Cellular Oncology 1(1):e29904 (2014).
Rode A., et al. Chromothripsis in cancer cells: an update. International Journal of Cancer (10):2322–2333
(2016).
Wang Y., Cottman M., Schiffman J. D., Molecular inversion probes: a novel microarray technology and its
application in cancer research. Cancer Genetics 205(7-8):341–355 (2012).
Gray P. N., Dunlop C. L. M, M. Elliott A. M. Not all next generation sequencing diagnostics are created equal:
understanding the nuances of solid tumor assay design for somatic mutation detection. Cancers 7(3):1313–
1332 (2015).
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