List of works - Florentia Fostira

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 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

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

scientific article published in August 2010

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

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

scientific article published on 13 November 2019

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.

scientific article

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

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

scientific article

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

scientific article published on 31 December 2014

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits

scientific article published on 19 September 2018

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

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

scientific article

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

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 Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer Risks Associated With and Pathogenic Variants

scientific article published on 10 May 2022

Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.

scientific article published on 11 February 2018

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

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)

scientific article published on 02 July 2020

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

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

scientific article published on 15 August 2011

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

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

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

Disease evolution and heterogeneity in bilateral breast cancer

scientific article

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

scientific article

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

scientific article

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

scientific article published on 24 September 2018

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

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

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

scientific article

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

scientific article

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

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

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

scientific article published on 15 January 2018

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

Hereditary Breast Cancer: The Era of New Susceptibility Genes ⬇️

scientific article published on March 21, 2013

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

scientific article published on 20 October 2013

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

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

scientific article published on 27 April 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 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

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Leiden Open Variation Database of the MUTYH gene

scientific article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

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

scientific article

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

scientific article published in May 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

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

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

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

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

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

scientific article published on 23 September 2019

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

scientific article published on 01 November 2019

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

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

List of works by Florentia Fostira

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

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

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

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

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

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

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

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.

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

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

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

Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

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

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

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

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients

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

Cancer Risks Associated With and Pathogenic Variants

Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

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

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)

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

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

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

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

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

Disease evolution and heterogeneity in bilateral breast cancer

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

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

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

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

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

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

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

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

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

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

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

Hereditary Breast Cancer: The Era of New Susceptibility Genes ⬇️

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

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

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

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Leiden Open Variation Database of the MUTYH gene

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

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

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

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

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

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

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

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

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

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

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

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

Shared heritability and functional enrichment across six solid cancers

Shared heritability and functional enrichment across six solid cancers

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

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

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

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

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

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