Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer - Wikidata - awgldk - TriplyDB

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

http://www.wikidata.org/entity/Q37373918

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Multigene testing of moderate-risk genes: be mindful of the missense PALB2: research reaching to clinical outcomes for women with breast cancer SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models Computational and statistical approaches to analyzing variants identified by exome sequencing Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia.The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study Rare mutations in XRCC2 increase the risk of breast cancer Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.Detecting statistical interaction between somatic mutational events and germline variation from next-generation sequence data.A fine-scale dissection of the DNA double-strand break repair machinery and its implications for breast cancer therapy.Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.Low levels of ATM in breast cancer patients with clinical radiosensitivity.Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study.A probabilistic method for identifying rare variants underlying complex traits A PALB2 mutation associated with high risk of breast cancer.Genome-wide small RNA sequencing and gene expression analysis reveals a microRNA profile of cancer susceptibility in ATM-deficient human mammary epithelial cells.ATM gene mutations in sporadic breast cancer patients from Brazil.Inherited predisposition to breast cancer among African American women.An optimal weighted aggregated association test for identification of rare variants involved in common diseases.Growing recognition of the role for rare missense substitutions in breast cancer susceptibility Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population.A probabilistic disease-gene finder for personal genomes.Increasing power of groupwise association test with likelihood ratio test Rare variants in the ATM gene and risk of breast cancer ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations Association of three SNPs in TOX3 and breast cancer risk: Evidence from 97275 cases and 128686 controls.ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.Tumour morphology of early-onset breast cancers predicts breast cancer risk for first-degree relatives: the Australian Breast Cancer Family Registry.Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

http://www.wikidata.org/entity/Q37373918

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 24 September 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Rare, evolutionarily unlikely ...... ncreased risk of breast cancer

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Rare, evolutionarily unlikely ...... creased risk of breast cancer.

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type

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Rare, evolutionarily unlikely ...... ncreased risk of breast cancer

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Rare, evolutionarily unlikely ...... creased risk of breast cancer.

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Rare, evolutionarily unlikely ...... ncreased risk of breast cancer

@en

Rare, evolutionarily unlikely ...... creased risk of breast cancer.

@nl

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J.AJHG.2009.08.018

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American Journal of Human Genetics

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Rare, evolutionarily unlikely ...... ncreased risk of breast cancer

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Anne Hartmann

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Australian Cancer Study

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Barbara Herte

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Breast Cancer Family Registries (BCFR)

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Catherine Voegele

http://www.w3.org/2001/XMLSchema#string

Corinna Feuchtinger

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Davit Babikyan

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Florence Le Calvez-Kelm

http://www.w3.org/2001/XMLSchema#string

Janet Hall

http://www.w3.org/2001/XMLSchema#string

Kathleen Cuningham Foundation ...... cts of Breast Cancer (kConFab)

http://www.w3.org/2001/XMLSchema#string

P2860

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427-446

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scholarly article

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10.1016/J.AJHG.2009.08.018

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4

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85

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Georgia Chenevix-Trench

David C. Whiteman

Maxime P Vallée

Penelope M. Webb

Fabienne Lesueur

Melissa C. Southey

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2009-09-24T00:00:00Z

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26838530

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