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List of works by Heli Nevanlinna

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

scientific article

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

scientific article published on 13 February 2012

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

scientific article

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer

scientific article published on 28 July 2002

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer

scientific article

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

article

A combined analysis of genome-wide association studies in breast cancer

scientific article published on 26 September 2010

A common coding variant in CASP8 is associated with breast cancer risk

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 genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

scientific article

A genome-wide association scan on estrogen receptor-negative breast cancer

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 genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.

scientific article

A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes

scientific article

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 proportion of BRCA2 mutations in Finnish breast cancer families.

scientific article

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

scientific article

A missense mutation in the BRCA2 gene in three siblings with ovarian cancer

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 polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients

scientific article published on 16 December 2015

A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families

scientific article

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

scientific article published on 18 June 2018

ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer

scientific article

ATM variants and cancer risk in breast cancer patients from Southern Finland

scientific article published on 16 August 2006

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

scientific article published on 30 September 2014

Abstract 3274: SNP-SNP interaction analyses of NQO1 and NF-κB signaling pathway genes on breast cancer survival and treatment outcome

scientific article published on 30 September 2014

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

scientific article published on 10 July 2016

Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

scientific article published on 20 March 2018

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

scientific article

Alcohol consumption and survival after a breast cancer diagnosis: a literature-based meta-analysis and collaborative analysis of data for 29,239 cases

scientific article

Amplification of fgfr4 gene in human breast and gynecological cancers

scientific article

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 information-theoretic analysis of genetics, gender and age in cancer patients

scientific article

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

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

Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis

scientific article published on 2 July 2015

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 prognosis of estrogen receptor-negative breast cancer after chemotherapy

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 between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

scientific article

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

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 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 the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

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

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

scientific article

BACH1 Ser919Pro variant and breast cancer risk

scientific article

BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

scientific article published in June 2001

BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families

scientific article published on 01 April 2001

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells

scientific article published on 01 December 2019

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

Basal cytokeratins in breast tumours among BRCA1, BRCA2 and mutation-negative breast cancer families

scientific article published on 14 February 2008

BglII restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37.

scientific article published on August 1993

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

scientific article published on 11 January 2022

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

scientific article published in July 2005

Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival

scientific article published in July 2005

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk estimation in families with history of breast cancer

scientific article

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

scientific article

Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

scientific article published on 20 September 2011

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CHEK2 1100delC and colorectal cancer

scientific article published on October 2003

CHEK2 I157T associates with familial and sporadic colorectal cancer

scientific article published in July 2006

CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population

scientific article published on 5 September 2017

CHEK2 variant I157T may be associated with increased breast cancer risk

scientific article published in September 2004

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

scientific article

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

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

scientific article published on 16 December 2019

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

scientific article

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

scientific article

Characterization of monoclonal antibodies against prostate specific antigen produced by genetic immunization

scientific article published in June 2004

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

Chromosome 5 imbalance mapping in breast tumors from BRCA1 and BRCA2 mutation carriers and sporadic breast tumors.

scientific article

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

scientific article published on 22 September 2015

Combined effect of CCND1 and COMT polymorphisms and increased breast cancer risk

scientific article

Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients

scientific article

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

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

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

scientific article published on 15 August 2011

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

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 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

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

scientific article

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

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

Comprehensive analysis of NuMA variation in 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 mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer

scientific article published on 28 May 2020

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

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

Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients

scientific article published in February 2005

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

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

Cyclin D1 expression is associated with poor prognostic features in estrogen receptor positive breast cancer

scientific article published in February 2008

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

scientific article

Data integration workflow for search of disease driving genes and genetic variants

scientific article published in 2011

Deletions on chromosome 4 in sporadic and BRCA mutated tumors and association with pathological variables

scientific article published on 01 September 2004

Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium

scientific article

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.

scientific article published on 26 April 2018

ERCC4Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping

Effect of image compression and scaling on automated scoring of immunohistochemical stainings and segmentation of tumor epithelium

scientific article

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

scientific article

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

scientific article published on 19 January 2017

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

scientific article published in 2013

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

scientific article

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

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

scholarly article published in Nature Genetics

Erratum: Genome-wide scanning for linkage in Finnish breast cancer families

scholarly article published in European Journal of Human Genetics

Eukaryotic translation initiation factor 4E (eIF4E) expression is associated with breast cancer tumor phenotype and predicts survival after anthracycline chemotherapy treatment

scientific article published on 24 August 2013

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 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 the RHINO gene for breast cancer predisposition in Finnish breast cancer families

scientific article published on 22 February 2014

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.

scientific article

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

scientific article published on 13 December 2006

Evaluation ofRAD50 in familial breast cancer predisposition

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Evidence for involvement of BRCA1 in sporadic breast carcinomas

article

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

Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families

scientific article published in September 2001

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome

scientific article published on 20 August 2016

FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

scientific article published on 12 July 2017

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

scientific article published on February 2014

Familial Breast Cancer in Southern Finland

scientific article

Familial breast cancer in southern Finland

scientific article published on 01 June 2000

Familial breast cancers without mutations in BRCA1 or BRCA2 have low cyclin E and high cyclin D1 in contrast to cancers in BRCA mutation carriers

scientific article published in April 2008

Family history influences the tumor characteristics and prognosis of breast cancers developing during postmenopausal hormone therapy

scientific article

Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controls

scientific article published on January 2009

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

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

scientific article

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

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

scientific article published on April 2013

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

scientific article published on 12 August 2017

Generation of a panel of somatic cell hybrids containing unselected fragments of human chromosome 10 by X-ray irradiation and cell fusion: application to isolating the MEN2A region in hybrid cells

scientific article published on March 1990

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 changes in inherited and sporadic ovarian carcinomas by comparative genomic hybridization: extensive similarity except for a difference at chromosome 2q24-q32

article published in 1998

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study

scientific 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 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

Genetic variation of ESR1 and its co-activator PPARGC1B is synergistic in augmenting the risk of estrogen receptor-positive breast cancer ⬇️

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 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 identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

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 for ovarian cancer susceptibility using pooled DNA.

scientific article published on 13 July 2012

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 identifies a common variant in RAD51B associated with male breast cancer risk

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

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

scientific article (publication date: 2013)

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

scientific article published on 5 November 2013

Genome-wide scanning for linkage in Finnish breast cancer families

article

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and clinical characteristics

scientific article

Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

scientific article

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

scientific article published on 16 June 2020

Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites

scientific article published on January 2001

Germline TP53 mutations in Finnish breast cancer patients

scientific article published on 12 March 2000

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

scientific article published on 5 October 2021

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

scientific article published on 21 November 2017

Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome

scientific article

Glycodelin expression associates with differential tumour phenotype and outcome in sporadic and familial non-BRCA1/2 breast cancer patients

article published in 2010

HOXB13 G84E mutation in Finland: population-based analysis of prostate, breast, and colorectal cancer risk

scientific article published on 4 January 2013

Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families

scientific article published in October 2001

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 breast cancer and handling of patients at risk

scientific article

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

scientific article published on 17 December 2015

High cyclin B1 expression is associated with poor survival in breast cancer

scientific article published on 17 March 2009

High expression of ZNF703 independent of amplification indicates worse prognosis in patients with luminal B breast cancer

scientific article published on 22 May 2013

High miR-30 Expression Associates with Improved Breast Cancer Patient Survival and Treatment Outcome

scientific article published on 10 June 2021

High-resolution genomic profiling of male breast cancer reveals differences hidden behind the similarities with female breast cancer

scientific article

Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families

scientific article

INPP4B and RAD50 have an interactive effect on survival after breast cancer

scientific article published on 21 December 2014

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 genetic markers with synergistic survival effect in cancer

scientific article

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 inherited genetic variations influencing prognosis in early-onset breast cancer

scientific journal 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

Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer DifferentiateBRCA2-Associated Tumors

article

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

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

scientific article

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 affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration

scientific article published on July 2016

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

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

scientific article

Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population

scientific article

Ki67 and cyclin A as prognostic factors in early breast cancer. What are the optimal cut-off values?

Lack of HIN-1 methylation in BRCA1-linked and "BRCA1-like" breast tumors.

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

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

Localization of gene for human syndecan, an integral membrane proteoglycan and a matrix receptor, to chromosome 2

scientific article (publication date: September 1990)

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

scientific article

Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes

article

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

scientific article

Mast cells and eosinophils in invasive breast carcinoma

scientific article

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

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer

scientific article published on 28 November 2017

Metaplastic carcinoma of the breast: Prognosis and response to systemic treatment in metastatic disease

scientific article published on 29 March 2019

MiR-34a expression has an effect for lower risk of metastasis and associates with expression patterns predicting clinical outcome in breast cancer

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Mitosis-arresting effect of the calcium channel inhibitor SK&F 96365 on human leukemia cells

scientific article published in October 1992

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

scientific article

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

article

Multi-variant pathway association analysis reveals the importance of genetic determinants of estrogen metabolism in breast and endometrial cancer susceptibility

scientific article

Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland

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 N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report from Finland

scientific article

NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

scientific article published on 30 May 2008

NQO1 expression correlates inversely with NFκB activation in human breast cancer

article published in 2011

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

scientific article

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer

scientific article

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

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

scientific article published in May 2015

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

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

No germline FH mutations in familial breast cancer patients

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

scientific article published on 28 February 2020

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

scientific article

Overabundant FANCD2, alone and combined with NQO1, is a sensitive marker of adverse prognosis in breast cancer

scientific article published on 29 July 2013

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

scientific article published in December 2016

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

scientific article published on 12 October 2017

PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.

scientific article

Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutations in Patients With Acute Pancreatitis

article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

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

scientific article published on 17 March 2022

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

scientific article published on April 2004

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

scientific article published on 03 October 2016

Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium

scientific article published on 4 December 2014

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

scientific article

Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer families

scientific article published on 20 July 2016

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

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy

scientific article

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

scientific article published on 11 June 2015

Polymorphisms in oxidative stress-related genes and mortality in breast cancer patients – Potential differential effects by radiotherapy?

article

Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium

scientific article published on 27 May 2011

Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients

scientific article published on 01 September 2000

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

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

scientific article

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

Prognostic role of HuR in hereditary breast cancer

scientific article published in December 2007

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

RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

scientific article published on 24 February 2015

RAD51B in Familial Breast Cancer

scientific article

RAD51C is a susceptibility gene for ovarian cancer

article

RESPONSE: Re: Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients

article

Rapid cloning and characterization of new chromosome 10 DNA markers by Alu element-mediated PCR.

scientific article

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients

scientific article published on 25 April 2019

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

Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families

scientific article

Reliability of cyclin A assessment on tissue microarrays in breast cancer compared to conventional histological slides

scientific article published on June 2006

Reply-Letter to the editor

scientific article published on 28 July 2019

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Risk of cancer in BRCA1 and BRCA2 mutation-positive and -negative breast cancer families (Finland)

scientific article published on 01 October 2001

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10

scientific article published on 22 November 2013

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

scientific article published on 22 July 2015

Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients

scientific article

Screening of HELQ in breast and ovarian cancer families

scientific article published on 01 January 2016

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

Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms

scientific article published on 18 September 2015

Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.

scientific article

Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus

scientific article

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies

scientific article

Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland

scientific article published on August 2001

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

scientific article published on 5 February 2017

Tenascin-C expression in invasion border of early breast cancer: a predictor of local and distant recurrence

scientific article

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

scientific article published on 18 March 2008

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.

scientific article

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 CHEK2 gene and inherited breast cancer susceptibility

scientific article

The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer

scientific article published on 5 November 2007

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

scientific article published on 01 November 2019

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

scientific article published on April 2015

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

scientific article published on 26 January 2020

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

scientific article published on 25 August 2009

The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype

scientific article published on 21 April 2009

The chromosome location of the human homolog of the mouse mammary tumor-associated gene INT6 and its status in human breast carcinomas

scientific article

The combined status of ATM and p53 link tumor development with therapeutic response

scientific article

The genes for CD37, CD53, and R2, all members of a novel gene family, are located on different chromosomes

scientific journal article

The importance of replication in gene-gene interaction studies: multifactor dimensionality reduction applied to a two-stage breast cancer case-control study

article

The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer

scientific article published on 15 June 2012

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

scientific article published on 8 March 2011

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes

scientific article published on 27 September 2006

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

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Utilization of fluorescence in situ hybridization with cytokeratin discriminators in TOP2A assessment of chemotherapy-treated patients with breast cancer

article published in 2012

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

scientific article published in PLoS ONE

Variants on the promoter region of PTEN affect breast cancer progression and patient survival

scientific article published on 15 December 2011

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition

article

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

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