I. Konstantopoulou

发表

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

Jane E. Carpenter, Jaana M. Hartikainen, W. Chung, 2019, Nature Genetics.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Yurii B. Shvetsov, Simon G. Coetzee, A. Whittemore, 2015, Nature Genetics.

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

Athens, D. Yannoukakos, E. Efstathiou, 2002, Cancer genetics and cytogenetics.

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

D. Mavroudis, F. Fostira, D. Yannoukakos, 2015, Clinical genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

Cross-Cancer Genome-Wide Association Study of Endometrial Cancer and Epithelial Ovarian Cancer Identifies Genetic Risk Regions Associated with Risk of Both Cancers

A. Whittemore, M. Beckmann, P. Fasching, 2020, Cancer Epidemiology, Biomarkers & Prevention.

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

F. Fostira, D. Yannoukakos, I. Konstantopoulou, 2020, Genomics.

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

K. Kyriacou, B. Bonanni, O. Olopade, 2019, Human mutation.

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

F. Fostira, D. Yannoukakos, H. Gogas, 2012, Breast Cancer Research and Treatment.

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

J. Benítez, R. Eeles, A. Spurdle, 2009, British Journal of Cancer.

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

F. Couch, B. Bonanni, T. Rebbeck, 2011, British Journal of Cancer.

Pathogenic Variants in Breast Cancer Susceptibility Genes in Older Women.

F. Fostira, I. Konstantopoulou, Despoina Kalfakakou, 2020, JAMA.

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

D. Yannoukakos, S. Radulović, R. Janković, 2006 .

The Afrotropical Drosophila montium subgroup: Balbiani ring 1, polytene chromosomes, and heat shock response of Drosophila vulcana.

I. Konstantopoulou, Z. Scouras, P. Mavragani-Tsipidou, 1996, Genome.

Variations in the heat-induced protein pattern of several Drosophila montium subgroup species (Diptera:Drosophilidae).

I. Konstantopoulou, Z. Scouras, E. Drosopoulou, 1997, Genome.

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

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2017, Clinical genetics.

BRCA1 mutation analysis in breast and ovarian cancer families from Greece

D. Yannoukakos, G. Fountzilas, E. Efstathiou, 2000, Breast Cancer Research.

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

F. Fostira, D. Yannoukakos, C. Loghis, 2015, Journal of B.U.ON. : official journal of the Balkan Union of Oncology.

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Annette Lee, W. Chung, R. Nussbaum, 2018, Human mutation.

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

C. Greenwood, F. Couch, W. Foulkes, 2011, European Journal of Human Genetics.

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

F. Fostira, D. Yannoukakos, D. Loutradis, 2019, Cancer genetics.

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

W. Chung, F. Couch, B. Bonanni, 2020, JAMA oncology.

BRCA1 AND BRCA2 GENES MUTATION ANALYSIS IN PATIENTS WITH A FAMILY HISTORY OF BREAST AND OVARIAN CANCER

D. Yannoukakos, S. Radulović, R. Janković, 2004 .

BRCA 1 AND BRCA 2 GENES MUTATION ANALYSIS IN PATIENTS WITH A FAMILY HISTORY OF BREAST AND OVARIAN CANCER

D. Yannoukakos, N. Pandis, I. Konstantopoulou, 2004 .

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

D. Yannoukakos, N. Haites, A. Schofield, 2002, Cancer letters.

BRCA1 mutation analysis in breast/ovarian cancer families from Greece

D. Yannoukakos, G. Fountzilas, E. Efstathiou, 2000 .

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

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2019, Clinical breast cancer.

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

F. Fostira, D. Yannoukakos, V. Georgoulias, 2014, Case reports in genetics.

The heat shock genes in theDrosophila montium subgroup: Chromosomal localization and evolutionary implications

I. Konstantopoulou, Z. Scouras, E. Drosopoulou, 1996, Chromosoma.

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

D. Yannoukakos, I. Konstantopoulou, M. Pertesi, 2011, Clinical genetics.

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

Nussbaum, S. Cross, P. Fasching, 2016 .

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

D. Yannoukakos, H. Gogas, C. Markopoulos, 2008, Breast Cancer Research and Treatment.

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

Brigitte Rack, Seth Slettedahl, Heli Nevanlinna, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

W. Chung, D. Steinemann, F. Couch, 2022, Communications Biology.

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

F. Fostira, D. Yannoukakos, G. Alexandrakis, 2018, Cancer genetics.

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Nicholas A. Sinnott-Armstrong, Richard C. Sallari, S. Cross, 2016, Nature Genetics.

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

D. Yannoukakos, I. Konstantopoulou, T. Rampias, 2006, Clinical endocrinology.

Prelingual Nonsyndromic Hearing Loss in Greece

D. Yannoukakos, J. Economides, A. Pampanos, 2002, ORL.

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

D. Yannoukakos, J. Economides, K. Brøndum‐Nielsen, 2002, International journal of pediatric otorhinolaryngology.

Insecticidal effects of essential oils. A study of the effects of essential oils extracted from eleven Greek aromatic plants onDrosophila auraria

I. Konstantopoulou, Z. Scouras, P. Mavragani-Tsipidou, 1992, Experientia.

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

Jane E. Carpenter, S. Cross, M. Beckmann, 2011, Cancer research.

The Heat-Shock Gene hsp83 of Drosophila auraria: Genomic Organization, Nucleotide Sequence, and Long Antiparallel Coupled ORFs (LAC ORFs)

I. Konstantopoulou, Z. Scouras, 1998, Journal of Molecular Evolution.

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

Stefania Tommasi, Laura Cortesi, Mads Thomassen, 2019, Cancer research.

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

Jack A. Taylor, W. Chung, S. Cross, 2019, bioRxiv.

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

Michael Jones, Peter Kraft, Arnaud Droit, 2017, Nature Genetics.

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, F. Couch, 2017, Journal of the National Cancer Institute.

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

A. Whittemore, L. Kiemeney, S. Cross, 2016, Nature Communications.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

Variant Interpretation in Patients With Metastatic Breast Cancer.

F. Fostira, I. Konstantopoulou, 2020, JAMA oncology.

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

Raymond M. Moore, P. Fasching, F. Couch, 2018, Journal of the National Cancer Institute.

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

Jane E. Carpenter, Peter Kraft, Gary K. Chen, 2011, Nature Genetics.

Genome-wide association studies identify four ER negative–specific breast cancer risk loci

Patrick Neven, Michael Jones, Wei Lu, 2013, Nature Genetics.

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

Jack A. Taylor, W. Chung, S. Cross, 2020 .

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

W. Chung, T. Fehm, T. Rebbeck, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Genetics.

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Dong Liang, Patrick Neven, Harvey Risch, 2016, Journal of the National Cancer Institute.

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

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2018, Journal of Human Genetics.

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

F. Fostira, D. Yannoukakos, E. Saloustros, 2018, Clinical genetics.

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

A. Papavassiliou, F. Fostira, D. Yannoukakos, 2019, Human mutation.

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

D. Yannoukakos, T. Ozcelik, I. Yulug, 2004, Anticancer research.

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

F. Fostira, D. Yannoukakos, H. Gogas, 2017, American journal of cancer research.

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

Jane E. Carpenter, Kyriaki Michailidou, France Labrèche, 2014, Human molecular genetics.

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

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2019, Nature Communications.

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

F. Fostira, D. Yannoukakos, G. Fountzilas, 2018, Journal of Human Genetics.

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

Jane E. Carpenter, A. Whittemore, W. Chung, 2016, Nature Communications.

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.

Julie O. Culver, F. Couch, E. Goode, 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases

M. Dimopoulos, F. Fostira, D. Yannoukakos, 2013, PloS one.

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

D. Yannoukakos, I. Boukovinas, G. Fountzilas, 2007, European journal of cancer.

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

Jane E. Carpenter, Kristen S Purrington, Victoria L. Cafourek, 2014, Carcinogenesis.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Lung cancer as a predominant feature in a patient with Peutz–Jeghers syndrome: Case report

F. Fostira, K. Papadopoulou, G. Fountzilas, 2022, Thoracic cancer.

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

W. Chung, F. Couch, O. Olopade, 2021, Genetics in Medicine.

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

F. Fostira, D. Yannoukakos, D. Mauri, 2018, Breast Cancer Research and Treatment.

alphaB-crystallin is a marker of aggressive breast cancer behavior but does not independently predict for patient outcome: a combined analysis of two randomized studies

H. Gogas, G. Fountzilas, G. Pentheroudakis, 2014, BMC Clinical Pathology.

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

F. Fostira, D. Yannoukakos, G. Voutsinas, 2015, Cancer genetics.

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus

Jane E. Carpenter, Jaana M. Hartikainen, S. Cross, 2016 .

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

D. Yannoukakos, A. Dobrovic, M. Young, 2008, Breast Cancer Research and Treatment.

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

D. Mavroudis, V. Georgoulias, F. Fostira, 2020, International journal of cancer.

Breast cancer risk variants at 6 q 25 display different phenotype associations and regulate ESR 1 , RMND 1 and CCDC 170

Wei Zheng, Mads Thomassen, Nicholas A. Sinnott-Armstrong, 2016 .

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

W. Chung, R. Nussbaum, D. Steinemann, 2015, Breast Cancer Research.

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

phylogenetic approach identified mitochondrial haplogroup T 1 a 1 as inversely associated with breast cancer risk in BRCA 2 mutation carriers

W. Chung, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

F. Couch, T. Rebbeck, J. Benítez, 2010, Cancer Epidemiology, Biomarkers & Prevention.

ociation of the Variants CASP 8 D 302 H and CASP 10 0 I with Breast and Ovarian Cancer Risk in B & P A 1 and BRCA 2 Mutation Carriers

Rob, T. Rebbeck, J. Benítez, 2010 .

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients

F. Fostira, D. Yannoukakos, I. Vlachos, 2021, Human mutation.

BRCA2 gene mutations in Greek patients with familial breast cancer

D. Yannoukakos, I. Gomatos, G. Androulakis, 2002, Human mutation.

BRCA2 gene mutations in Greek patients with familial breast cancer

D. Yannoukakos, I. Gomatos, G. Androulakis, 2002, Human mutation.

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

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

W. Chung, M. Beckmann, P. Fasching, 2019, npj Breast Cancer.

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

F. Fostira, D. Yannoukakos, I. Konstantopoulou, 2019, Case reports in oncological medicine.

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

F. Fostira, D. Yannoukakos, H. Gogas, 2009, British Journal of Cancer.

The hsp70 locus of Drosophila auraria (montium subgroup) is single and contains copies in a conserved arrangement

N. Nikolaidis, I. Konstantopoulou, Z. Scouras, 1998, Chromosoma.

A Drosophila hsp70 gene contains long, antiparallel, coupled open reading frames (LAC ORFs) conserved in homologous loci

C. Sander, C. Ouzounis, P. Sideras, 1995, Journal of Molecular Evolution.

CHEK2 Pathogenic Variants in Greek Breast Cancer Patients: Evidence for Strong Associations with Estrogen Receptor Positivity, Overuse of Risk-Reducing Procedures and Population Founder Effects

F. Fostira, C. Papadimitriou, E. Fountzilas, 2021, Cancers.

Hereditary cancer syndromes.

F. Fostira, D. Yannoukakos, R. Sandaltzopoulos, 2007, Journal of B.U.ON. : official journal of the Balkan Union of Oncology.

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

F. Fostira, D. Yannoukakos, G. Fountzilas, 2014, Clinical genetics.

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

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2019, Journal of Human Genetics.

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

D. Yannoukakos, E. Efstathiou, I. Konstantopoulou, 2003, The breast journal.

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

F. Fostira, D. Yannoukakos, G. Fountzilas, 2018, Journal of Human Genetics.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

A. Whittemore, B. Karlan, E. John, 2023, British Journal of Cancer.

Pathology of BRCA1- and BRCA2-associated breast cancers: known and less known connections

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2016 .

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

James M. Hodge, E. Burnside, Y. Kamatani, 2023, Clinical cancer research : an official journal of the American Association for Cancer Research.

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Jane E. Carpenter, W. Chung, M. Beckmann, 2019, npj Breast Cancer.

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

P. Fasching, F. Couch, A. Cox, 2018 .

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

A. Whittemore, S. Cross, R. Nussbaum, 2016, Breast Cancer Research.

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Yurii B. Shvetsov, Simon G. Coetzee, Dennis J. Hazelett, 2014, Nature Genetics.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2011, Methods in Molecular Biology.

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

Jane E. Carpenter, S. Cross, M. Beckmann, 2011, Cancer research.

Genetic Epidemiology

K. Humphreys, O. Olopade, B. Karlan, 2020, Methods in Molecular Biology.

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

F. Fostira, D. Yannoukakos, D. Mauri, 2018, Breast Cancer Research and Treatment.

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

F. Fostira, D. Yannoukakos, C. Papadimitriou, 2019, Journal of Human Genetics.

Human Mutation

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

Prevalence of BRCA1 mutations among 284 women with triple-negative breast cancer.

F. Fostira, D. Yannoukakos, H. Gogas, 2010 .

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

Jack A. Taylor, S. Cross, C. Vachon, 2020, Genetic epidemiology.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.

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

Jane E. Carpenter, Jaana M. Hartikainen, A. Whittemore, 2016, Breast Cancer Research.

Genetic Epidemiology

Olga A. Vsevolozhskaya, K. Humphreys, O. Olopade, 2011, Methods in Molecular Biology.