The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. - Wikidata - awgldk - TriplyDB

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

http://www.wikidata.org/entity/Q33904762

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Single nucleotide polymorphisms (SNPs) are inherited from parents and they measure heritable events A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine The CHEK2 gene and inherited breast cancer susceptibility Extracolonic manifestations of lynch syndrome CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum.CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids Synchronous male breast and colon cancer presenting with ileus: A case report.Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care.Familial breast and bowel cancer: does it exist?Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil An association study between CHEK2 gene mutations and susceptibility to breast cancer.First evidence of a large CHEK2 duplication involved in cancer predisposition in an Italian family with hereditary breast cancer.Program update and novel use of the DESPAIR program to design a genome-wide linkage study using relative pairs Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization.CHEK2 is a multiorgan cancer susceptibility gene.Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan.Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.Synchronous breast and rectal cancers in a man.Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant Pharmacogenomics and breast cancer.Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.CHEK2 contribution to hereditary breast cancer in non-BRCA families Cancer in Jews: introduction and overview.ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis.CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.Genetic counselors: translating genomic science into clinical practice TGFBR1 signaling and breast cancer Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals.A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital Synchronous breast and colon cancer: factors determining treatment strategy.The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.Genomic Biomarkers for Breast Cancer Risk.A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer

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The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

http://www.wikidata.org/entity/Q33904762

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2003 nî lūn-bûn

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2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2003 թվականի ապրիլին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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The CHEK2 1100delC mutation id ...... d colorectal cancer phenotype.

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American Journal of Human Genetics

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The CHEK2 1100delC mutation id ...... d colorectal cancer phenotype.

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Anja Wagner

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Anja de Snoo

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Ans van den Ouweland

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Carli Tops

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Cecile Brekelmans

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Fons Elstrodt

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Gabriela Möslein

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Grace Tjon A Fat

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Henry Lynch

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Jan Klijn

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P2860

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

The DNA damage response: putting checkpoints in perspective

Familial endometrial cancer in female carriers of MSH6 germline mutations

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

Suppression of genome instability by redundant S-phase checkpoint pathways in Saccharomyces cerevisiae.

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

CHK2 kinase--a busy messenger.

Interfaces between the detection, signaling, and repair of DNA damage.

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.

The DNA damage-dependent intra-S phase checkpoint is regulated by parallel pathways.

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1308-1314

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10.1086/375121

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5

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72

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Antoinette Hollestelle

Hanne Meijers-Heijboer

Gabriela Möslein

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2003-04-10T00:00:00Z

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10808296

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12690581

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colorectal cancer

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1180284

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