Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing. (Q52611832)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

main subject

whole genome sequencing

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Helene Dreau

2

1 reference

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22 March 2020

Samantha J.L. Knight

3

1 reference

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22 March 2020

Kate Ridout

4

1 reference

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22 March 2020

Dimitris Vavoulis

6

1 reference

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22 March 2020

Richard Colling

7

1 reference

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22 March 2020

Pavlos Antoniou

8

1 reference

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22 March 2020

Erika M Kvikstad

9

1 reference

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22 March 2020

Melissa M Pentony

10

1 reference

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22 March 2020

Andrew Protheroe

12

1 reference

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22 March 2020

Ketan A Shah

14

1 reference

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22 March 2020

Adrienne M Flanagan

18

1 reference

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22 March 2020

Ian Tomlinson

22

1 reference

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22 March 2020

David N Church

24

1 reference

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22 March 2020

Jenny Taylor

25

1 reference

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22 March 2020

author name string

Tuba Mizani

5

1 reference

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22 March 2020

Angela Hamblin

11

1 reference

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22 March 2020

Marina Parton

13

1 reference

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22 March 2020

Zsolt Orosz

15

1 reference

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22 March 2020

Nick Athanasou

16

1 reference

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22 March 2020

Bass Hassan

17

1 reference

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22 March 2020

Ahmed Ahmed

19

1 reference

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22 March 2020

Stuart Winter

20

1 reference

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22 March 2020

Niko Popitsch

23

1 reference

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22 March 2020

Adrian Harris

21

1 reference

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22 March 2020

publication date

2 April 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

Cold Spring Harbor molecular case studies

22 March 2020

published in

1 reference

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22 March 2020

volume

4

1 reference

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22 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients.

22 March 2020

cites work

1 reference

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Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.

22 May 2018

1 reference

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Clinical Benefit in Response to Palbociclib Treatment in Refractory Uterine Leiomyosarcomas with a Common CDKN2A Alteration

22 May 2018

1 reference

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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

22 May 2018

1 reference

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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists

22 May 2018

1 reference

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Biomarkers of Response and Resistance to DNA Repair Targeted Therapies

22 May 2018

1 reference

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Regression of Chemotherapy-Resistant Polymerase ε (POLE) Ultra-Mutated and MSH6 Hyper-Mutated Endometrial Tumors with Nivolumab

22 May 2018

1 reference

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Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer

22 May 2018

1 reference

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Mutational Landscape and Sensitivity to Immune Checkpoint Blockers

22 May 2018

1 reference

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Gynecologic Cancers: Emerging Novel Strategies for Targeting DNA Repair Deficiency

22 May 2018

1 reference

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Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers

22 May 2018

1 reference

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POLE proofreading mutation, immune response and prognosis in endometrial cancer

22 May 2018

1 reference

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Landscape of somatic mutations in 560 breast cancer whole-genome sequences

22 May 2018

1 reference

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Practical issues in the application of p16 immunohistochemistry in diagnostic pathology

22 May 2018

1 reference

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Clonal neoantigens elicit T cell immunoreactivity and sensitivity to immune checkpoint blockade

22 May 2018

1 reference

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DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution

22 May 2018

1 reference

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Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating lymphocytes and expression of PD-1/PD-L1 in high grade serous ovarian cancer

22 May 2018

1 reference

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Role of non-coding sequence variants in cancer

22 May 2018

1 reference

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Does CDKN2A loss predict palbociclib benefit?

22 May 2018

1 reference

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Loss of H3K27me3 Expression Is a Highly Sensitive Marker for Sporadic and Radiation-induced MPNST.

22 May 2018

1 reference

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SomVarIUS: somatic variant identification from unpaired tissue samples.

22 May 2018

1 reference

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Integrated genomics approach to identify biologically relevant alterations in fewer samples

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Potential therapeutic targets in ARID1A-mutated cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Improved survival of patients with hypermutation in uterine serous carcinoma

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

A case of a CD56-expressing ectomesenchymal chondromyxoid tumor of the tongue: potential diagnostic usefulness of commonly available CD56 over CD57.

22 May 2018

1 reference

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Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer

22 May 2018

1 reference

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POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer

22 May 2018

1 reference

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Whole genomes redefine the mutational landscape of pancreatic cancer

22 May 2018

1 reference

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Synthetic lethality by targeting EZH2 methyltransferase activity in ARID1A-mutated cancers

22 May 2018

1 reference

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The utility of immunohistochemistry in the differential diagnosis of gynecologic disorders

22 May 2018

1 reference

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Prognostic significance of POLE proofreading mutations in endometrial cancer.

22 May 2018

1 reference

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Clinicopathological analysis of endometrial carcinomas harboring somatic POLE exonuclease domain mutations

22 May 2018

1 reference

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PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

22 May 2018

1 reference

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Integrative and comparative genomic analysis of HPV-positive and HPV-negative head and neck squamous cell carcinomas

22 May 2018

1 reference

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Endometrial cancer: a review and current management strategies: part II.

22 May 2018

1 reference

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Endometrial cancer: a review and current management strategies: part I.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Standardized decision support in next generation sequencing reports of somatic cancer variants

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Androgen-deprivation therapy-induced aggressive prostate cancer with neuroendocrine differentiation

22 May 2018

1 reference

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A functional cancer genomics screen identifies a druggable synthetic lethal interaction between MSH3 and PRKDC.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Small cell carcinoma of the prostate

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Fusion genes in solid tumors: an emerging target for cancer diagnosis and treatment

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Signatures of mutational processes in human cancer

22 May 2018

1 reference

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Frequency of TERT promoter mutations in human cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Therapeutic targeting of a robust non-oncogene addiction to PRKDC in ATM-defective tumors

22 May 2018

1 reference

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Overview of available p53 function tests in relation to TP53 and ATM gene alterations and chemoresistance in chronic lymphocytic leukemia

22 May 2018

1 reference

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Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers

22 May 2018

1 reference

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Highly recurrent TERT promoter mutations in human melanoma

22 May 2018

1 reference

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Deciphering signatures of mutational processes operative in human cancer

22 May 2018

1 reference

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22 May 2018

The cancer antigenome

1 reference

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Atlas of genetics and cytogenetics in oncology and haematology in 2013

22 May 2018

1 reference

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Comprehensive molecular portraits of human breast tumours

22 May 2018

1 reference

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Sequence analysis of mutations and translocations across breast cancer subtypes

22 May 2018

1 reference

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The landscape of cancer genes and mutational processes in breast cancer

22 May 2018

1 reference

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Whole-genome analysis informs breast cancer response to aromatase inhibition

22 May 2018

1 reference

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High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

The clonal and mutational evolution spectrum of primary triple-negative breast cancers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Exome sequencing as a tool for Mendelian disease gene discovery

22 May 2018

1 reference

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Integrative genomics viewer

22 May 2018

1 reference

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The mutator phenotype in cancer: molecular mechanisms and targeting strategies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

TP53 mutation and survival in chronic lymphocytic leukemia

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Poly(ADP)-ribose polymerase inhibition: frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

A small-cell lung cancer genome with complex signatures of tobacco exposure

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

A comprehensive catalogue of somatic mutations from a human cancer genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Human tumor-associated viruses and new insights into the molecular mechanisms of cancer

22 May 2018

1 reference

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Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Fast and accurate short read alignment with Burrows-Wheeler transform

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

The molecular biology of endometrial cancers and the implications for pathogenesis, classification, and targeted therapies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

An integrated genomic analysis of human glioblastoma multiforme

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

A census of human cancer genes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Marker band in one chromosome 14 from Burkitt lymphomas.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Blinded histopathological characterisation of POLE exonuclease domain-mutant endometrial cancers: sheep in wolf's clothing.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Efficacy and Safety of Abemaciclib, an Inhibitor of CDK4 and CDK6, for Patients with Breast Cancer, Non-Small Cell Lung Cancer, and Other Solid Tumors

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Refining prognosis and identifying targetable pathways for high-risk endometrial cancer; a TransPORTEC initiative.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Increase of peripheral blood CD57+ T-cells in patients with oral squamous cell carcinoma.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

p16 immunohistochemistry can be used to detect human papillomavirus in oral cavity squamous cell carcinoma.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

TP53, SF3B1, and NOTCH1 mutations and outcome of allotransplantation for chronic lymphocytic leukemia: six-year follow-up of the GCLLSG CLL3X trial.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

The prognostic significance of p16 overexpression in oropharyngeal squamous cell carcinoma: implications for treatment strategies and future clinical studies.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Non-coding recurrent mutations in chronic lymphocytic leukaemia

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Olaparib Maintenance Therapy in Platinum-Sensitive Relapsed Ovarian Cancer

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

“BRCAness” Syndrome in Ovarian Cancer: A Case-Control Study Describing the Clinical Features and Outcome of Patients With Epithelial Ovarian Cancer Associated WithBRCA1andBRCA2Mutations

30 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5880257

Fused transcript of abl and bcr genes in chronic myelogenous leukaemia

30 November 2018

1 reference

12 December 2020

Multiple molecular abnormalities in Ph1 chromosome positive acute lymphoblastic leukaemia

1 reference

12 December 2020

Evidence for a 15; 17 translocation in every patient with acute promyelocytic leukemia

1 reference

12 December 2020

Neuroendocrine differentiated small cell carcinoma presenting as recurrent prostate cancer after androgen deprivation therapy

1 reference

12 December 2020

Immunohistochemical staining patterns of p53 can serve as a surrogate marker for TP53 mutations in ovarian carcinoma: an immunohistochemical and nucleotide sequencing analysis

1 reference

12 December 2020

The gene expression signature associated with TP53 mutation/deletion in chronic lymphocytic leukaemia is dominated by the under-expression of TP53 and other genes on chromosome 17p

1 reference

12 December 2020

Precision medicine: lessons learned from the SHIVA trial - Authors' reply

1 reference

12 December 2020

Identifiers

DOI

10.1101/MCS.A002279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29610388%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference