(Q52602399)

4 May 2018

title

Pathogenic Germline Variants in 10,389 Adult Cancers. (English)

1 reference

4 May 2018

Liang-Bo Wang

16

0 references

Ninad Oak

Ninad Oak

10

0 references

Olivier Lichtarge

31

Olivier Lichtarge

1 reference

4 May 2018

Fahd Al-Mulla

28

0 references

Jüri Reimand

Jüri Reimand

Cancer Genome Atlas Research Network

42

0 references

30

Cancer Genome Atlas Research Network

1 reference

4 May 2018

Alexander J Lazar

34

0 references

Funda Meric-Bernstam

43

Funda Meric-Bernstam

1 reference

4 May 2018

45

Ilya Shmulevich

1 reference

4 May 2018

0 references

29

Kimberly J Johnson

1 reference

4 May 2018

Andrew D Cherniack

13

Andrew D Cherniack

1 reference

4 May 2018

Joshua F. McMichael

22

Joshua F McMichael

1 reference

4 May 2018

Benjamin J. Raphael

33

Benjamin Raphael

1 reference

4 May 2018

author name string

Kuan-Lin Huang

1

1 reference

4 May 2018

R Jay Mashl

2

1 reference

4 May 2018

Yige Wu

3

1 reference

4 May 2018

Deborah I Ritter

4

1 reference

4 May 2018

Jiayin Wang

5

1 reference

4 May 2018

Clara Oh

6

1 reference

4 May 2018

Marta Paczkowska

7

1 reference

4 May 2018

Sheila Reynolds

8

1 reference

4 May 2018

Matthew A Wyczalkowski

9

1 reference

4 May 2018

Adam D Scott

11

1 reference

4 May 2018

Michal Krassowski

12

1 reference

4 May 2018

Kathleen E Houlahan

14

1 reference

4 May 2018

Reyka Jayasinghe

15

1 reference

4 May 2018

Daniel Cui Zhou

17

1 reference

4 May 2018

Di Liu

18

1 reference

4 May 2018

Song Cao

19

1 reference

4 May 2018

Young Won Kim

20

1 reference

4 May 2018

Amanda Koire

21

1 reference

4 May 2018

Vishwanathan Hucthagowder

23

1 reference

4 May 2018

Tae-Beom Kim

24

1 reference

4 May 2018

Abigail Hahn

25

1 reference

4 May 2018

Chen Wang

26

1 reference

4 May 2018

Michael D McLellan

27

1 reference

4 May 2018

Paul C Boutros

32

1 reference

4 May 2018

Wei Zhang

35

1 reference

4 May 2018

Michael C Wendl

36

1 reference

4 May 2018

Ramaswamy Govindan

37

1 reference

4 May 2018

Sanjay Jain

38

1 reference

4 May 2018

David Wheeler

39

1 reference

4 May 2018

Shashikant Kulkarni

40

1 reference

4 May 2018

John F Dipersio

41

1 reference

4 May 2018

Ken Chen

44

1 reference

4 May 2018

Sharon E Plon

46

1 reference

4 May 2018

Feng Chen

47

1 reference

4 May 2018

Li Ding

48

1 reference

4 May 2018

language of work or name

English

0 references

publication date

1 April 2018

1 reference

4 May 2018

published in

Cell

1 reference

4 May 2018

volume

173

1 reference

4 May 2018

page(s)

355-370.e14

1 reference

4 May 2018

issue

2

1 reference

4 May 2018

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5949147/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

4 October 2018

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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing

4 October 2018

1 reference

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4 October 2018

1 reference

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Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

RET Functions as a Dual-Specificity Kinase that Requires Allosteric Inputs from Juxtamembrane Elements

4 October 2018

1 reference

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4 October 2018

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

4 October 2018

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

4 October 2018

1 reference

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Monogenic and polygenic determinants of sarcoma risk: an international genetic study

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Protein-structure-guided discovery of functional mutations across 19 cancer types

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

The Ensembl Variant Effect Predictor

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Patterns and functional implications of rare germline variants across 12 cancer types

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Systematic discovery of complex insertions and deletions in human cancers.

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

ClinVar: public archive of interpretations of clinically relevant variants

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Germline Mutations in Predisposition Genes in Pediatric Cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

TransVar: a multilevel variant annotator for precision genomics

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

MIMP: predicting the impact of mutations on kinase-substrate phosphorylation.

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Clinical actionability enhanced through deep targeted sequencing of solid tumors

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Evolutionary constraint and disease associations of post-translational modification sites in human genomes

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

PhosphoSitePlus, 2014: mutations, PTMs and recalibrations

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Realizing the promise of cancer predisposition genes

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

The mutational landscape of phosphorylation signaling in cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

4 October 2018

Cancer genome landscapes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Predicting functional effect of human missense mutations using PolyPhen-2.

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Nek1 phosphorylates Von Hippel-Lindau tumor suppressor to promote its proteasomal degradation and ciliary destabilization

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Activating HER2 mutations in HER2 gene amplification negative breast cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Inherited pancreatic cancer syndromes

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Comparison of statistical tests for disease association with rare variants

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Integrative genomics viewer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Rare genetic variants and the risk of cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

A method and server for predicting damaging missense mutations

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Arginine methylation regulates the p53 response

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Autophosphorylated residues involved in the regulation of human chk2 in vitro.

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Identification of RET autophosphorylation sites by mass spectrometry

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Two genetic hits (more or less) to cancer

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Mutation and cancer: statistical study of retinoblastoma

4 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5949147

Inactivation of BRCA1 and BRCA2 in ovarian cancer

4 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Slippage of mitotic arrest and enhanced tumor development in mice with BubR1 haploinsufficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29625052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2018.03.039

1 reference

4 May 2018

0 references

1 reference

4 May 2018