(Q35602861)

9 August 2017

title

Personalized genomic analyses for cancer mutation discovery and interpretation (English)

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9 August 2017

16

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1

Siân Jones

0 references

Victor Velculescu

Victor E Velculescu

18

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Luis Alberto Diaz Jr

Luis A Diaz

17

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Monica Nesselbush

Monica Nesselbush

5

1 reference

ORCID Public Data File 2021

Mark Sausen

15

Mark Sausen

1 reference

9 August 2017

2

Valsamo Anagnostou

1 reference

9 August 2017

4

Sonya Parpart-Li

1 reference

9 August 2017

14

Lisa Kann

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9 August 2017

7

Manish Shukla

1 reference

9 August 2017

3

Karli Lytle

1 reference

9 August 2017

10

Eniko Papp

1 reference

9 August 2017

13

Theresa Zhang

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9 August 2017

David R Riley

6

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9 August 2017

Bryan Chesnick

8

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9 August 2017

Maura Kadan

9

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9 August 2017

Kevin G Galens

11

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9 August 2017

Derek Murphy

12

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9 August 2017

language of work or name

English

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publication date

1 April 2015

1 reference

Science Translational Medicine

9 August 2017

published in

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9 August 2017

volume

7

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9 August 2017

issue

283

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9 August 2017

page(s)

283ra53

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Genetic landscape of esophageal squamous cell carcinoma

9 August 2017

cites work

1 reference

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27 July 2018

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Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing

27 July 2018

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

27 July 2018

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

27 July 2018

1 reference

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27 July 2018

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Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas

27 July 2018

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Comprehensive molecular characterization of clear cell renal cell carcinoma

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Personalized oncology through integrative high-throughput sequencing: a pilot study

27 July 2018

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Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity

27 July 2018

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Integrated genomic analyses of ovarian carcinoma

27 July 2018

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LOVD v.2.0: the next generation in gene variant databases

27 July 2018

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Exome sequencing identifies GRIN2A as frequently mutated in melanoma

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

The genetic landscape of the childhood cancer medulloblastoma

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

CDD: a Conserved Domain Database for the functional annotation of proteins

27 July 2018

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A map of human genome variation from population-scale sequencing

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma

27 July 2018

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A method and server for predicting damaging missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Comparative lesion sequencing provides insights into tumor evolution

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

The consensus coding sequences of human breast and colorectal cancers

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Predicting deleterious amino acid substitutions

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

A general method applicable to the search for similarities in the amino acid sequence of two proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Targeted cancer therapies in the twenty-first century: lessons from imatinib

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

An integrated genomic analysis of human glioblastoma multiforme

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4442685

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25877891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25877891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25877891

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCITRANSLMED.AAA7161

1 reference

9 August 2017

1 reference

9 August 2017

1 reference