Germline Mutations in Predisposition Genes in Pediatric Cancer (Q36524309)

14 August 2017

Germline Mutations in Predisposition Genes in Pediatric Cancer (English)

1 reference

14 August 2017

Dale Hedges

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Ching-Hon Pui

object named as

Ching-Hon Pui

1 reference

14 August 2017

Elaine R Mardis

1 reference

14 August 2017

Amar Gajjar

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14 August 2017

Bhavin Vadodaria

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14 August 2017

Sheila A Shurtleff

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14 August 2017

Michael Rusch

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14 August 2017

Jinghui Zhang

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14 August 2017

Michael F Walsh

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14 August 2017

Gang Wu

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14 August 2017

Michael N Edmonson

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14 August 2017

Tanja A Gruber

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14 August 2017

John Easton

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14 August 2017

Dale Hedges

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14 August 2017

Xiaotu Ma

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14 August 2017

Xin Zhou

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14 August 2017

Donald A Yergeau

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14 August 2017

Mark R Wilkinson

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14 August 2017

Xiang Chen

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14 August 2017

Rose B McGee

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14 August 2017

Stacy Hines-Dowell

1 reference

14 August 2017

Regina Nuccio

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14 August 2017

Emily Quinn

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14 August 2017

Aman Patel

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14 August 2017

Jared B Becksfort

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14 August 2017

Shuoguo Wang

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14 August 2017

Meaghann S Weaver

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14 August 2017

Li Ding

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14 August 2017

Richard K Wilson

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14 August 2017

David W Ellison

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14 August 2017

Alberto S Pappo

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14 August 2017

Kim E Nichols

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14 August 2017

James R Downing

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14 August 2017

language of work or name

English

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publication date

18 November 2015

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The New England Journal of Medicine

14 August 2017

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14 August 2017

373

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14 August 2017

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14 August 2017

2336-2346

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CONSERTING: integrating copy-number analysis with structural-variation detection

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

The genomic landscape of hypodiploid acute lymphoblastic leukemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

TSGene: a web resource for tumor suppressor genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Next-generation sequencing for cancer diagnostics: a practical perspective.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Ewing’s sarcoma as second malignancy following a short latency in unilateral retinoblastoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM format

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Is There a Predisposition Gene for Ewing's Sarcoma?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Ewing's sarcoma as second malignant neoplasm after retinoblastoma: a case report

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Ewing sarcoma-family tumors that arise after treatment of primary childhood cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Loss of heterozygosity in normal breast epithelial tissue and benign breast lesions in BRCA1/2 carriers with breast cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

A census of human cancer genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Biallelic inactivation of BRCA2 in Fanconi anemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Ewing sarcoma and sinonasal neuroectodermal tumors as second malignant tumors after retinoblastoma and other neoplasms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Identification of the breast cancer susceptibility gene BRCA2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Ethical and legal implications of cancer genetic testing: do physicians have a duty to warn patients' relatives about possible genetic risks?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Hereditary cancer risk assessment in a pediatric oncology follow‐up clinic

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Risks to Relatives in Genomic Research: A Duty to Warn?

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Loss of heterozygosity analysis at theBRCAloci in tumor samples from patients with familial breast cancer

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4734119

Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study

4 December 2018

1 reference

12 December 2020

Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic

1 reference

12 December 2020

Concise handbook of familial cancer susceptibility syndromes - second edition

1 reference

12 December 2020

The "duty to warn" a patient's family members about hereditary disease risks

1 reference

12 December 2020

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families

1 reference

12 December 2020

Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes

1 reference

12 December 2020

Identifiers

DOI

10.1056/NEJMOA1508054

1 reference

14 August 2017

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14 August 2017

PubMed publication ID

26580448

1 reference