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Lista de obras de Harald Surowy

A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity

artículo científico publicado en 2017

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

artículo científico publicado en 2017

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

artículo científico publicado en 2021

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Blood-based DNA methylation as biomarker for breast cancer: a systematic review

artículo científico publicado en 2016

Capture and Amplification by Tailing and Switching (CATS). An ultrasensitive ligation-independent method for generation of DNA libraries for deep sequencing from picogram amounts of DNA and RNA

artículo científico publicado en 2014

Circulating free DNA integrity and concentration as independent prognostic markers in metastatic breast cancer

artículo científico publicado en 2018

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

artículo científico publicado en 2014

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA.

artículo científico publicado en 2016

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

artículo científico publicado en 2014

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

artículo científico publicado en 2016

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

Germline mutations of the MSR1 gene in prostate cancer families from Germany

artículo científico publicado en 2006

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

Heritability of baseline and induced micronucleus frequencies

artículo científico publicado en 2011

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

artículo científico publicado en 2017

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

artículo científico publicado en 2014

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

artículo científico publicado en 2016

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Interference in transcription of overexpressed genes by promoter-proximal downstream sequences

artículo científico publicado en 2016

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

artículo científico publicado en 2015

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Plasma DNA integrity as a biomarker for primary and metastatic breast cancer and potential marker for early diagnosis

artículo científico publicado en 2014

Plasma miR-122 and miR-200 family are prognostic markers in colorectal cancer

artículo científico publicado en 2016

Predisposition for TMPRSS2-ERG Fusion in Prostate Cancer by Variants in DNA Repair Genes

article

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

Reduced DNA repair in BRCA1 mutation carriers undetectable before onset of breast cancer?

artículo científico publicado en 2007

The prostate cancer risk locus at 10q11 is associated with DNA repair capacity

artículo científico publicado en 2012

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

artículo científico publicado en 2021