(Q40423712)

15 June 2018

title

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer (English)

1 reference

15 June 2018

1 reference

Albert de la Chapelle

Albert de la Chapelle

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Sandya Liyanarachchi

Sandya Liyanarachchi

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Mark Arnold

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Electra Paskett

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15 June 2018

Ilene R. Lattimer

Ilene Lattimer

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15 June 2018

Heather Hampel

Heather Hampel

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15 June 2018

Wendy L Frankel

Wendy L Frankel

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15 June 2018

author name string

Rachel Pearlman

1 reference

15 June 2018

Benjamin Swanson

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15 June 2018

Weiqiang Zhao

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15 June 2018

Ahmet Yilmaz

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15 June 2018

Kristin Miller

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15 June 2018

Jason Bacher

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15 June 2018

Christopher Bigley

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15 June 2018

Lori Nelsen

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15 June 2018

Paul J Goodfellow

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15 June 2018

Richard M Goldberg

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15 June 2018

Peter G Shields

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15 June 2018

Jo L Freudenheim

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15 June 2018

Peter P Stanich

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15 June 2018

Matthew Kalady

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15 June 2018

Brandie Heald

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15 June 2018

Carla Greenwood

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15 June 2018

Ian Paquette

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15 June 2018

Marla Prues

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15 June 2018

David J Draper

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15 June 2018

Carolyn Lindeman

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15 June 2018

J Philip Kuebler

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15 June 2018

Kelly Reynolds

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15 June 2018

Joanna M Brell

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15 June 2018

Amy A Shaper

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15 June 2018

Sameer Mahesh

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15 June 2018

Nicole Buie

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15 June 2018

Kisa Weeman

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15 June 2018

Kristin Shine

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15 June 2018

Mitchell Haut

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15 June 2018

Joan Edwards

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15 June 2018

Shyamal Bastola

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15 June 2018

Karen Wickham

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15 June 2018

Karamjit S Khanduja

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15 June 2018

Rosemary Zacks

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15 June 2018

Colin C Pritchard

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15 June 2018

Brian H Shirts

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15 June 2018

Angela Jacobson

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15 June 2018

Brian Allen

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15 June 2018

Ohio Colorectal Cancer Prevention Initiative Study Group

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15 June 2018

publication date

1 April 2017

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15 June 2018

published in

JAMA Oncology

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15 June 2018

volume

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15 June 2018

issue

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15 June 2018

page(s)

464-471

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15 June 2018

Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

PD-1 Blockade in Tumors with Mismatch-Repair Deficiency

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Accurate and exact CNV identification from targeted high-throughput sequence data

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Feasibility of screening for Lynch syndrome among patients with colorectal cancer

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Improving performance of multigene panels for genomic analysis of cancer predisposition.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5564179

Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27978560

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

BRCA2gene: a candidate for clinical testing in familial colorectal cancer type X

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27978560

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMAONCOL.2016.5194

1 reference

15 June 2018

PMC publication ID

5564179

1 reference

15 June 2018

PubMed publication ID

27978560

1 reference

15 June 2018