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List of works by Drakoulis Yannoukakos

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

A Mendelian randomization analysis of circulating lipid traits and breast cancer risk

scientific article published on 23 December 2019

A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype

scientific article published on 10 February 2014

A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation.

scientific article

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing

scientific article published in April 2002

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

scientific article published on 30 October 2011

A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype

scientific article published in September 2010

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.

scientific article

A point mutation in the extracellular domain activates LET-23, the Caenorhabditis elegans epidermal growth factor receptor homolog.

scientific article published on February 1996

A rareRETgene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening

AE anion exchanger mRNA and protein expression in vascular smooth muscle cells, aorta, and renal microvessels ⬇️

scientific article published on December 1, 1997

Absence of association with cancer risk and low frequency of alterations at a p53 responsive PIG3 gene polymorphism in breast and lung carcinomas

scientific article

Absence of mutations in the functional domains of the human MDM2 oncogene in non-small cell lung carcinomas

scientific article published in November 2000

Abstract 3266: Expression quantitative trait locus analysis of triple negative breast cancer

scientific article published on 30 September 2014

An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers

scientific article published on September 2008

An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer

scientific article published in August 2010

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Atypical Medullary Breast Carcinoma in a Family Carrying the 5382insC BRCA-1 Mutation

scientific article published on 01 May 2003

BRCA1 and BRCA2 genes mutation analysis in patients with a family history of breast and ovarian cancer

article

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects

scientific article published on 05 February 2020

BRCA1 mutation analysis in breast and ovarian cancer families from Greece.

scientific article published on 12 March 2000

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

scientific article

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations

scientific article published on 01 February 2003

BRCA2 gene mutations in Greek patients with familial breast cancer

scientific article (publication date: 2002)

Breast cancer risk inBRCA1 andBRCA2 mutation carriers and polyglutamine repeat length in theAIB1 gene

article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases

scientific article published on 20 February 2015

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients

scientific article published on 26 June 2021

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients

scientific article

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer

scientific article

Collaborative genomics for human health and cooperation in the Mediterranean region

article

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers

scientific article published on 01 January 2005

Common breast cancer susceptibility loci are associated with triple-negative breast cancer

scientific article published on 15 August 2011

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases

scientific article published on 02 June 2009

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece

scientific article published on 15 August 2018

Correction: Prevalence of BRCA1 Mutations in Familial andSporadic Greek Ovarian Cancer Cases

scientific article published on 17 April 2013

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

scientific article published on 03 November 2020

Culture of primary epithelial adenoma cells from familial adenomatous polyposis patients

scientific article published on 01 March 2008

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy among patients with idiopathic and functional hypothalamic amenorrhea: a systematic review of the literature and a meta-analysis.

scientific article published on 28 March 2018

Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort.

scientific article

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

scientific article published on 24 September 2018

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

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

scientific article

Fully integrated monolithic optoelectronic transducer for real-time protein and DNA detection: the NEMOSLAB approach

scientific article

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

scientific article published on 09 March 2019

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

article published in 2007

Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

scientific article

Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

scientific article published on 17 December 2018

Genetic alterations of the APC gene in familial adenomatous polyposis patients of the hellenic group for the study of colorectal cancer.

scientific article

Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: Creation of a National Registry.

scientific article published on 20 November 2017

Genetic counseling of medullary breast cancer patients

scientific article published on 01 April 2004

Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

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

scientific article

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

scientific article published on 9 December 2013

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed

scientific article

Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer

scientific article published on 15 January 2018

Glutathione-mediated metabolism of technetium-99m SNS/S mixed ligand complexes: a proposed mechanism of brain retention

scientific article

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

Growth index is independent of microvessel density in non–small-cell lung carcinomas

scientific article published on 01 August 2002

Haplotype analysis of two recurrent genomic rearrangements in the BRCA1 gene suggests they are founder mutations for the Greek population

article

Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation

scientific article published on 30 June 2016

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

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

scientific article

Hereditary cancer syndromes

scientific article published on 01 September 2007

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families

scientific article published on 20 October 2013

Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56----Glu) by protein chemistry methods

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

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

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

scientific article published on 23 October 2017

Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now?

Improved DNA microarray detection sensitivity through immobilization of preformed in solution streptavidin/biotinylated oligonucleotide conjugates.

scientific article published on 05 March 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

scientific article

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer

article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

MicroRNA related polymorphisms and breast cancer risk

scientific article

Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart

scientific article

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

scientific article published in December 2017

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients

scientific article

Novel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patients.

scientific article

Novel mutations of the APC gene in familial adenomatous polyposis in Greek patients

article

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

scientific article

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene

scientific article published on 12 July 2019

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

scientific article published on 14 May 2019

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

scientific article published in December 2016

Pathology of BRCA1- and BRCA2-associated Breast Cancers: Known and Less Known Connections

scientific article published on 22 August 2019

Phosphorylation sites in human erythrocyte band 3 protein

scientific article published on 01 January 1991

Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®

scientific article published on 11 October 2020

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.

scientific article published in September 2002

Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification

scientific article published on 12 June 2019

Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.

scientific article

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases

scientific article

Prevalence of GJB2 mutations in prelingual deafness in the Greek population

scientific article published in September 2002

Primary structure of the cytoplasmic domain of human erythrocyte protein band 3. Comparison with its sequence in the mouse

scientific article published on 01 September 1989

Proteolytic Cleavage Sites of Native AE2 Anion Exchanger in Gastric Mucosal Membranes†

scientific article published on 01 August 1996

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

RAD51B in Familial Breast Cancer

scientific article

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families

scientific article

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

scientific article published on 26 January 2020

The fate of BRCA1-related germline mutations in triple-negative breast tumors

scientific article published on January 2017

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019

Thermal denaturation of the BRCT tandem repeat region of human tumour suppressor gene product BRCA1

article

Thermal unfolding of human BRCA1 BRCT-domain variants

scientific article published on 06 April 2007

Thermodynamic study of the BRCT domain of BARD1 and its interaction with the -pSER-X-X-Phe- motif-containing BRIP1 peptide

scientific article published on 06 May 2010

Three regions of erythrocyte band 3 protein are phosphorylated on tyrosines: characterization of the phosphorylation sites by solid phase sequencing combined with capillary electrophoresis

scientific article published in July 1991

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

article

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

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