Search filters

List of works by Anna Jakubowska

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

A Range of Cancers Is Associated with the rs6983267 Marker on Chromosome 8

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

article

A common nonsense mutation of the BLM gene and prostate cancer risk and survival

scientific article published on 2 October 2013

A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland

scientific article published on 08 August 2006

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

scientific article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

scientific article published on 19 September 2010

A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer

scientific article published on 27 November 2003

A high proportion of founder BRCA1 mutations in Polish breast cancer families

scientific article

A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer

scientific article published on November 2006

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 low selenium level is associated with lung and laryngeal cancers

scientific article

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

scientific article published on 16 January 2020

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

scientific article published on 12 July 2016

A personalised approach to prostate cancer screening based on genotyping of risk founder alleles

scientific article published on 30 May 2013

A six-nucleotide deletion in the CASP8 promoter is not associated with a susceptibility to breast and prostate cancers in the Polish population

scientific article published on 21 December 2007

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

scientific article published on 18 June 2018

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

Abstract LB-159: Methylation of BRCA1 gene in blood is not inherited via maternal germ line and may predispose to triple-negative or medullary breast cancer

article

Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma

scientific article published in November 1998

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

scientific article

Allelic modification of breast cancer risk in women with an NBN mutation

scientific article published on 13 August 2019

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 inherited NBN mutation is associated with poor prognosis prostate cancer

scientific article published on 13 November 2012

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

scientific article

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

Annual conference on hereditary cancers 2009 szczecin, poland. 10-11 december 2009. Abstracts

article

Are two-centimeter breast cancers large or small?

scientific article published on August 2013

Arsenic (As) and breast cancer risk.

scientific article published on 10 December 2012

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

scientific article

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

scientific article

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

scientific article published on 21 June 2016

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of Estrogen Receptor 1 and Tumor Necrosis Factor α Polymorphisms with Temporomandibular Joint Anterior Disc Displacement without Reduction

scientific article published on 12 October 2020

Association of MMP8 gene variation with an increased risk of malignant melanoma

scientific article published in October 2011

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

scientific article

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 breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

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 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

scientific article published on 18 August 2021

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 recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor

scientific article published on 21 March 2022

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

scientific article

Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study

scientific article published on 4 September 2016

Association of zinc level and polymorphism in MMP-7 gene with prostate cancer in Polish population

scientific article published on 23 July 2018

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

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

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

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

Attitudes toward preventive oophorectomy among BRCA1 mutation carriers in Poland

scientific article published on January 2004

BARD1 and breast cancer in Poland

scientific article published on 27 February 2007

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation

scientific article published on 28 May 2019

BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population

scientific article published on 15 January 2016

BRCA1 mutations and colorectal cancer in Poland.

scientific article published in December 2010

BRCA1 mutations and prostate cancer in Poland

scientific article published in February 2008

BRCA1 promoter methylation in peripheral blood is associated with the risk of triple-negative breast cancer

scientific article published on 29 September 2019

BRCA1-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms

scientific article

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

BRCA2 gene mutations in families with aggregations of breast and stomach cancers

scientific article published on October 2002

Blood and serum samples collection and storage for further selenium measurements

scientific article published on 20 April 2012

Blood arsenic levels and the risk of familial breast cancer in Poland

scientific article published on 26 August 2019

Blood cadmium levels as a marker for early lung cancer detection

scientific article published on 12 November 2020

Body mass index and breast cancer survival: a Mendelian randomization analysis

scientific article published in December 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast Cancers with Ocular Metastases are Early Onset, Non-Familial and Non-BRCA1/BRCA2 Tumours

scientific article published on 15 December 2004

Breast cancer predisposing alleles in Poland

scientific article published on 01 July 2005

Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland ⬇️

scientific article published on 01 May 2003

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

scientific article

Breast cancer susceptibility genes

article

CDH1 gene mutations do not contribute in hereditary diffuse gastric cancer in Poland

scientific article published in December 2010

CDKN2A-positive breast cancers in young women from Poland.

scientific article

CHAPTER 22. Selenium and Cancer

scientific article published in 2015

CHEK2 mutations and HNPCC-related colorectal cancer

scientific article published in June 2010

CHEK2 mutations as markers for high risk of breast cancer

scientific article

CHEK2-positive breast cancers in young Polish women

scientific article published on 01 August 2006

CYP1B1 and predisposition to breast cancer in Poland

article

Can selenium be a modifier of cancer risk in CHEK2 mutation carriers?

scientific article published on 8 October 2013

Can selenium levels act as a marker of colorectal cancer risk?

scientific article

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

scientific article

Characteristics of selected features of hereditary ovarian cancer in carriers of constitutional BRCA1 gene mutation

scientific article published on 01 November 2002

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

scientific article published in April 2009

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

scientific article published on 22 September 2015

Clinical characteristics of breast cancer in patients with an NBS1 mutation

scientific article

Clinical characteristics of hereditary ovarian cancer (HOC) in Poland

scientific article published on 01 September 2002

Clinical features of familial ovarian cancer lacking mutations in BRCA1 or BRCA2

scientific article published on 01 January 2004

Clinical genetic services for familial breast cancer in Poland

scientific article published on October 1999

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis

scientific article published on 7 May 2015

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

scientific article published on 19 June 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

scientific article

Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer

scientific article

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

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

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

Common variants at 19p13 are associated with susceptibility to ovarian cancer

scientific article

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

scientific article

Common variants of DNA repair genes and malignant melanoma

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comparison of Alu-PCR, microsatellite instability, and immunohistochemical analyses in finding features characteristic for hereditary nonpolyposis colorectal cancer

scientific article published on 18 May 2001

Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization

scientific article

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

scientific article

Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers

scientific article published on 14 February 2008

Constitutional methylation of cancer-related and selenoprotein coding genes in breast carcinoma in Polish population

scientific article published on 10 December 2012

Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population

scientific article published on 10 September 2015

Copper as diagnostic marker of cancers.

scientific article published on 26 November 2015

Correction: A Low Selenium Level Is Associated with Lung and Laryngeal Cancers

scientific article published on 16 August 2013

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on 01 January 2019

Correction: Serum selenium levels and the risk of progression of laryngeal cancer.

scientific article

Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility

scientific article published on 01 April 2016

Coverage of the genetic background of breast cancer in the polish population

scientific article published on 15 November 2006

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

DNA and RNA analyses in detection of genetic predisposition to cancer

scientific article published on 4 December 2012

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

scientific article

DNA variation in MSR1, RNASEL and E-cadherin genes and prostate cancer in Poland

scientific article published on 01 January 2007

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing

scientific article published in August 2001

Do BRCA1 modifiers also affect the risk of breast cancer in non-carriers?

scientific article

Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

scientific article published on 31 March 2016

Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations

scientific article published on 7 May 2014

Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations

scientific article published on 17 October 2008

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

scientific article published in 2013

Epistatic relationship between the cancer susceptibility genes CHEK2 and p27

scientific article published on 01 March 2007

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

scientific article

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium

scientific article

Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention

scientific article published on 17 November 2008

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

scientific article published on 17 December 2014

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

scientific article

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

scientific article

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

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

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

scientific article published on 4 July 2016

Exploring the link between germline and somatic genetic alterations in breast carcinogenesis

scientific article

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

scientific article published on February 2014

Fhit protein expression in hereditary and sporadic colorectal cancers

scientific article published on January 1, 2001

Fine needle aspiration biopsy and molecular analysis in differential diagnosis of lymphoproliferative diseases of the orbit and eye adnexa.

scientific article published in January 2004

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

scientific article published on 07 September 2016

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

scientific article

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

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 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 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

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

scientific article

Folic acid and breast cancer risk.

scientific article published on 10 December 2012

Folic acid and cancer risk in BRCA1 carriers.

scientific article

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer

scientific article

Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma

scientific article published in December 1999

Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland.

scientific article published on 27 February 2018

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

scientific article published on 05 April 2022

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

GWAS markers in diagnostics of breast cancer risk.

scientific article published on 10 December 2012

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

scientific article published on April 2013

Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

article

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

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 insulin-like growth factor 2 may play a role in ovarian cancer risk

scientific article

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

scientific article

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

scientific article published on 30 November 2015

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 Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

scientific article

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 studies identify four ER negative-specific breast cancer risk loci

scientific article published in April 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)

Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanning

scientific article published on April 2013

German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer

scientific article published on 18 October 2005

Germline 657del5 mutation in the NBS1 gene in breast cancer patients

scientific article published on 16 May 2003

Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.

scientific article published in August 2003

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

scientific article published in October 2002

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

scientific article published on 13 December 2005

Germline RECQL mutations are associated with breast cancer susceptibility

scientific article published on 27 April 2015

Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene

scientific article

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

scientific article published on 5 October 2021

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

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 ovarian cancer in Poland.

scientific article published in October 2003

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

scientific article

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

scientific article published on January 2013

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

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

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 novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

Increased risk of breast cancer in relatives of malignant melanoma patients from families with strong cancer familial aggregation

scientific article published in June 2003

Influence of the Levels of Arsenic, Cadmium, Mercury and Lead on Overall Survival in Lung Cancer

scientific article published on 5 August 2021

Influence of the selenium level on overall survival in lung cancer

scientific article published on 26 July 2019

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

Inherited NBN Mutations and Prostate Cancer Risk and Survival

scientific article published on 13 December 2018

Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

scientific article published on 13 October 2019

Inherited variants in XRCC2 and the risk of breast cancer

scientific article published on 28 August 2019

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

Integrin beta3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk

scientific article published on 12 January 2007

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

scientific article

Iron and breast cancer risk

scientific article published on 10 December 2012

Iron as diagnostic marker of cancer.

scientific article published on 26 November 2015

Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence

scientific article published in PLoS ONE

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

scientific 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

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

scientific article

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland

scientific article published on 01 October 2008

Low-risk Genes and Multi-organ Cancer Risk in the Polish Population

scientific article published on 15 January 2006

Lung Cancer Occurrence-Correlation with Serum Chromium Levels and Genotypes

scientific article published on 09 July 2020

Magnesium as a diagnostic marker of cancer.

scientific article published on 26 November 2015

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

scientific article

Meeting abstracts from the Annual Conference on Hereditary Cancers 2015: Szczecin, Poland. 24-25 September, 2015.

scientific article published on 10 October 2017

Meeting abstracts from the Annual Conference on Hereditary Cancers 2016: Szczecin, Poland. 14-15 September 2016.

scientific article published on 5 December 2017

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

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Methylation of the BRCA1 promoter in peripheral blood DNA is associated with triple-negative and medullary breast cancer

scientific article published on 07 November 2014

Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks

scientific article published on 25 October 2006

MicroRNA related polymorphisms and breast cancer risk

scientific article

Microelements as diagnostic markers of pancreatic cancer.

scientific article published on 26 November 2015

Microelements as risk factors for cancer of the lung and larynx.

scientific article published on 10 December 2012

Molecular basis of inherited predispositions for tumors.

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

Mutations and polymorphisms of genes moderate increase in gastric cancer risk.

scientific article published on 20 April 2012

Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland

scientific article published on 01 September 2020

Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas

scientific article published on 15 March 2004

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

scientific article published on 13 November 2014

NBS1 is a prostate cancer susceptibility gene

scientific article published in February 2004

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

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

Non-random transmission of mutant alleles to female offspring of BRCA1 carriers in Poland

scientific article published in September 2003

Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma

scientific article published on 01 November 2001

Nuclear Pedigree Criteria of Suspected HNPCC.

scientific article

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes

scientific article published in January 2001

Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype

scientific article published in October 2002

Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism

scientific article

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Ovarian cystadenoma as a characteristic feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations.

scientific article published in January 2004

PALB2 mutations and prostate cancer risk and survival

scientific article published in August 2021

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

scientific article published in December 2016

PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON HIPPEL-LINDAU EYE DISEASE.

scientific article published on 25 August 2015

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

scientific article published on 12 October 2017

Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

scientific article published on 17 March 2022

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

Plasma micronutrients, trace elements, and breast cancer in BRCA1 mutation carriers: an exploratory study

scientific article published on 11 May 2012

Pleomorphic adenoma of salivary glands does not appear to be a BRCA-1-dependent tumour in a Polish cohort.

scientific article published in September 2008

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

Polymorphic variants in VAX1 gene (rs7078160) and BMP4 gene (rs762642) and the risk of non-syndromic orofacial clefts in the Polish population

scientific article published on 01 January 2014

Polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population

scientific article published on 31 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

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

scientific article published on 16 June 2020

Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population

scientific article published on 23 December 2015

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

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

scientific article published on 8 April 2015

Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts

scientific article published on 11 April 2020

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients

scientific article published on 23 October 2019

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer

scientific article published on 15 February 2015

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers

scientific article published on 17 June 2015

Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland

scientific article published on 17 August 2020

Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population

scientific article published on 04 September 2020

Prospective observation of breast/ovarian cancer risk in BRCA1 carriers depending on serum selenium level optimized with diet

scientific article

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

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

RAD51B in Familial Breast Cancer

scientific article

Rapid test for detection of high risk of breast cancer

scientific article published on 12 January 2012

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

scientific article published on 18 February 2021

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update

scientific article published on 12 March 2014

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer

scientific article published on 29 August 2011

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

scientific article published on June 2017

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

scientific article published on 12 January 2018

Selenium (Se) and breast cancer risk

Selenium (Se) and the risk of breast, ovarian and prostate cancers

scientific article

Selenium and cancer risk in CHEK2 mutation carriers

Selenium and gastrointestinal cancers risk

scientific article published on 10 December 2012

Selenium and genotypes as marker of risk in BRCA1 mutation carriers

scientific article

Selenium and the risk of cancer in BRCA1 carriers

scientific article published in June 2011

Selenium and the risk of cancer of the lung and larynx. A case-control study from a region with low selenium.

scientific article

Selenium as a marker of cancer risk and of selection for control examinations in surveillance

scientific article

Selenium as diagnostic marker of cancers.

scientific article published on 26 November 2015

Selenium as marker for cancer risk and prevention

scientific article published on September 2012

Serum Concentrations of Selenium and Copper in Patients Diagnosed with Pancreatic Cancer

scientific article published on 28 December 2015

Serum concentration of iron as predictor of cancer risk among BRCA1 mutation carriers.

scientific article published on 20 April 2012

Serum concentration of selected macro- and microelements and their correlation with the risk of breast and ovarian cancer among BRCA1 mutation carriers

Serum concentrations of Cu, Se, Fe and Zn in patients diagnosed with pancreatic cancer.

scientific article

Serum folate concentration and the incidence of lung cancer

scientific article

Serum selenium level and cancer risk: a nested case-control study

scientific article published on 23 December 2019

Serum selenium levels and the risk of progression of laryngeal cancer

scientific article

Serum selenium levels predict survival after breast cancer

scientific article published on 17 October 2017

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

scientific article published on 30 July 2015

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population

scientific article

Survival from breast cancer in patients with CHEK2 mutations.

scientific article published on 21 February 2014

Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2013

The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation

scientific article

The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population

scientific article published on 19 July 2017

The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

scientific article

The APOBEC3B c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population

scientific article published on 24 June 2023

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 CHEK 2 GENE mutations and the risk of Gastric cancer

scientific article

The CYP17A1 -34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 01 November 2019

The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland

scientific article

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers

scientific article

The NOD2 3020insC mutation and the risk of colorectal cancer

scientific article published in March 2004

The RAD51 135 G>C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers

scientific article published on 01 February 2007

The VEGF_936_C>T 3'UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women

scientific article published on 02 January 2008

The impact of oophorectomy on survival from breast cancer in patients with CHEK2 mutations

scientific article published in July 2022

The influence of selenium concentration and variations in selenoprotein genes on the CHEK2-dependent cancers

scientific article published on 9 September 2015

The presence of prostate cancer at biopsy is predicted by a number of genetic variants

scientific article published on 16 September 2013

The risk of breast cancer in women with a CHEK2 mutation

scientific article

The risk of gastric cancer in carriers of CHEK2 mutations

scientific article published in September 2013

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

scientific article published on 8 March 2011

The rs1447295 and DG8S737 markers on chromosome 8q24 and cancer risk in the Polish population

scientific article published in March 2010

The spectrum of mutations predisposing to familial breast cancer in Poland

scientific article published on 26 June 2019

The variant allele of the rs188140481 polymorphism confers a moderate increase in the risk of prostate cancer in Polish men

scientific article published in March 2015

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

scientific article published on 01 March 2020

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

scientific article published on 6 September 2017

Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers.

scientific article

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

scientific article published in PLoS ONE

Vitamins A, E and D and cancer risk in BRCA1 carriers

scientific article

Zinc and breast cancer risk

scientific article published on 10 December 2012

Zinc as diagnostic marker of cancers.

scientific article published on 26 November 2015

p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study

scientific article published on 22 March 2023

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

scientific article

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

scientific article published on 21 August 2018

Paulina is supported by:

About Paulina

Help