Lista de obras -

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado en 2007

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

artículo científico publicado en 2017

Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer

artículo científico publicado en 2010

An integrated genomics analysis of epigenetic subtypes in human breast tumors links DNA methylation patterns to chromatin states in normal mammary cells.

artículo científico publicado en 2016

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

artículo científico publicado en 2008

Analysis of fusion transcripts indicates widespread deregulation of snoRNAs and their host genes in breast cancer

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences

artículo científico publicado en 2019

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

CD44 isoforms are heterogeneously expressed in breast cancer and correlate with tumor subtypes and cancer stem cell markers

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Characterisation of amplification patterns and target genes at chromosome 11q13 in CCND1-amplified sporadic and familial breast tumours.

artículo científico publicado en 2011

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

artículo científico publicado en 2010

Characterization of a novel breast carcinoma xenograft and cell line derived from a BRCA1 germ-line mutation carrier.

artículo científico publicado en 2003

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report

artículo científico publicado en 2013

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

scholarly article by Mia M Gaudet published in November 2010

Cytohesin 1 regulates homing and engraftment of human hematopoietic stem and progenitor cells

artículo científico publicado en 2016

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

scientific article published on 03 August 2016

Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization

artículo científico

Erratum: Corrigendum: Signatures of mutational processes in human cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico

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

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Global H3K27 trimethylation and EZH2 abundance in breast tumor subtypes

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2013

High-definition spatial transcriptomics for in situ tissue profiling

artículo científico publicado en 2019

High-resolution genomic and expression analyses of copy number alterations in HER2-amplified breast cancer

artículo científico publicado en 2010

High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Identification of subtypes in human epidermal growth factor receptor 2--positive breast cancer reveals a gene signature prognostic of outcome

artículo científico publicado en 2010

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

artículo científico

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

artículo científico publicado en 2016

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Molecular classification of familial non-BRCA1/BRCA2 breast cancer

artículo científico publicado en 2003

Molecular profiling reveals low- and high-grade forms of primary melanoma

artículo científico publicado en 2012

Molecular stratification of metastatic melanoma using gene expression profiling: Prediction of survival outcome and benefit from molecular targeted therapy.

artículo científico publicado en 2015

Molecular subtypes of breast cancer are associated with characteristic DNA methylation patterns

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Multiple metastases from cutaneous malignant melanoma patients may display heterogeneous genomic and epigenomic patterns

Multiple metastases from cutaneous malignant melanoma patients may display heterogeneous genomic and epigenomic patterns.

artículo científico publicado en 2010

Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma

scientific article published on 23 May 2016

Mutational processes molding the genomes of 21 breast cancers

artículo científico publicado en 2012

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

artículo científico publicado en 2014

Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios

artículo científico publicado en 2008

Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study

artículo científico publicado en 2009

Poor prognosis in carcinoma is associated with a gene expression signature of aberrant PTEN tumor suppressor pathway activity.

artículo científico publicado en 2007

Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2.

artículo científico publicado en 2010

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study

artículo científico publicado en 2010

Substantial intrinsic variability in chemoradiosensitivity of newly established anaplastic thyroid cancer cell-lines

scientific article published on 10 January 2020

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

artículo científico publicado en 2017

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

scientific article published on 01 November 2019

The Life History of 21 Breast Cancers

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

artículo científico publicado en 2012

The spatial RNA integrity number assay for in situ evaluation of transcriptome quality

artículo científico publicado en 2021

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

artículo científico publicado en 2020

Variation of breast cancer risk among BRCA1/2 carriers

artículo científico publicado en 2008

Lista de obras de

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

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

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

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer

An integrated genomics analysis of epigenetic subtypes in human breast tumors links DNA methylation patterns to chromatin states in normal mammary cells.

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Analysis of fusion transcripts indicates widespread deregulation of snoRNAs and their host genes in breast cancer

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

Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

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

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

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

CD44 isoforms are heterogeneously expressed in breast cancer and correlate with tumor subtypes and cancer stem cell markers

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

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

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

Characterisation of amplification patterns and target genes at chromosome 11q13 in CCND1-amplified sporadic and familial breast tumours.

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

Characterization of a novel breast carcinoma xenograft and cell line derived from a BRCA1 germ-line mutation carrier.

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

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

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

Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report

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

Cytohesin 1 regulates homing and engraftment of human hematopoietic stem and progenitor cells

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization

Erratum: Corrigendum: Signatures of mutational processes in human cancer

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

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

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

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

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

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

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

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

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

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

Global H3K27 trimethylation and EZH2 abundance in breast tumor subtypes

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

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

High-definition spatial transcriptomics for in situ tissue profiling

High-resolution genomic and expression analyses of copy number alterations in HER2-amplified breast cancer

High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization

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

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

Identification of subtypes in human epidermal growth factor receptor 2--positive breast cancer reveals a gene signature prognostic of outcome

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

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

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

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

Molecular classification of familial non-BRCA1/BRCA2 breast cancer

Molecular profiling reveals low- and high-grade forms of primary melanoma

Molecular stratification of metastatic melanoma using gene expression profiling: Prediction of survival outcome and benefit from molecular targeted therapy.

Molecular subtypes of breast cancer are associated with characteristic DNA methylation patterns

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

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

Multiple metastases from cutaneous malignant melanoma patients may display heterogeneous genomic and epigenomic patterns

Multiple metastases from cutaneous malignant melanoma patients may display heterogeneous genomic and epigenomic patterns.

Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma

Mutational processes molding the genomes of 21 breast cancers

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios

Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study

Poor prognosis in carcinoma is associated with a gene expression signature of aberrant PTEN tumor suppressor pathway activity.

Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2.

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

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

Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study

Substantial intrinsic variability in chemoradiosensitivity of newly established anaplastic thyroid cancer cell-lines

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

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

The Life History of 21 Breast Cancers

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

The spatial RNA integrity number assay for in situ evaluation of transcriptome quality

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

Variation of breast cancer risk among BRCA1/2 carriers