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Lista de obras de Peter Devilee

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

artículo científico publicado en 2012

13th General Meeting of The Breast Cancer Linkage Consortium, November 29-December 1, 1999, Amsterdam, The Netherlands

artículo científico publicado en 2000

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

5-Aminosalicylic acid inhibits colitis-associated but not sporadic colorectal neoplasia in a novel conditional Apc mouse model.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

artículo científico publicado en 2009

A High-Resolution STS, EST, and Gene-Based Physical Map of the Hereditary Paraganglioma Region on Chromosome 11q23 ⬇️

artículo científico publicado el 1 de septiembre de 1997

A family history of breast cancer will not predict female early onset breast cancer in a population-based setting

artículo científico publicado en 2008

A genome wide linkage search for breast cancer susceptibility genes

artículo científico publicado en 2006

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

artículo científico publicado en 1997

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

artículo científico publicado en 2009

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

artículo científico publicado en 2020

A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients

artículo científico publicado en 2011

A partial BRCA1 sequence homology mapping to 4q28 ⬇️

artículo científico publicado el 1 de enero de 2001

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer

artículo científico publicado en 2007

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

artículo científico publicado en 2009

A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1

scientific article published on 01 March 2000

A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage

artículo científico publicado en 2001

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

artículo científico publicado en 2018

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility

artículo científico publicado en 2000

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

Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

article

Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.

artículo científico publicado en 2015

Allele loss patterns on chromosome 17q in 109 breast carcinomas indicate at least two distinct target regions

artículo científico publicado en 1993

Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10 ⬇️

artículo científico publicado el 18 de julio de 2011

Allelotype analysis of flow-sorted breast cancer cells demonstrates genetically related diploid and aneuploid subpopulations in primary tumors and lymph node metastases

artículo científico publicado en 2000

Allelotype of head and neck paragangliomas: Allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locusPGL

artículo científico publicado en 1994

Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q

artículo científico publicado el 1 de septiembre de 1991

Alpha satellite DNAs on chromosomes 10 and 12 are both members of the dimeric suprachromosomal subfamily, but display little identity at the nucleotide sequence level

artículo científico publicado el 1 de agosto de 1992

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

artículo científico publicado en 2020

Amplification of genes within the chromosome 11q13 region is indicative of poor prognosis in patients with operable breast cancer ⬇️

artículo científico publicado el 1 de octubre de 1992

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

artículo científico publicado en 1995

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

artículo científico publicado en 2015

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Association of ESR1 gene tagging SNPs with breast cancer risk

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma

scientific article published on 01 October 1989

At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer

artículo científico publicado en 1994

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

artículo científico publicado en 1997

BRCA1 in the family: A case description of the psychological implications

artículo científico publicado en 1997

BRCA1-related breast cancer in Austrian breast and ovarian cancer families: SpecificBRCA1 mutations and pathological characteristics ⬇️

artículo científico publicado el 29 de julio de 1998

BRCA1/BRCA2 Germline Mutations and Breast Cancer Risk

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2015

BRCA2 heterozygosity delays cytokinesis in primary human fibroblasts

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

artículo científico publicado en 2020

Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations

artículo científico publicado en 2013

Breast cancer information on the web ⬇️

artículo científico publicado el 1 de noviembre de 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer

artículo científico publicado en 2013

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

artículo científico publicado en 1999

Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10

artículo científico publicado en 1988

Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

artículo científico publicado en 2016

Clinical and pathological features of BRCA1 associated carcinomas in a hospital-based sample of Dutch breast cancer patients

artículo científico publicado en 2001

Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases

artículo científico publicado en 2007

Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

artículo científico publicado en 2018

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 2011

Common germline polymorphisms associated with breast cancer-specific survival

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Complete sequencing of TP53 predicts poor response to systemic therapy of advanced breast cancer

artículo científico publicado en 2000

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the <i>RAD51C</i> Gene

artículo científico publicado en 2020

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

artículo científico publicado en 2016

Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer

article

Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes

artículo científico publicado en 1996

Correction to: Clinicians' use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

scientific article published on 01 October 2019

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.

artículo científico publicado en 2010

Corrections to: Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries. ⬇️

artículo científico publicado en 2017

Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Deep sequencing to reveal new variants in pooled DNA samples

artículo científico publicado en 2009

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84.

artículo científico publicado en 1986

Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes

artículo científico publicado en 1988

Differences in patterns of allelic loss between two common types of adult cancer, breast and colon carcinoma, and Wilms' tumor of childhood ⬇️

artículo científico publicado el 1 de abril de 1991

Dinucleotide repeat polymorphism at D16S533

artículo científico publicado en 1994

Direct nonradioactive in situ hybridization of somatic cell hybrid DNA to human lymphocyte chromosomes

artículo científico

Discovering genetic profiles by array-CGH in familial breast tumors.

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Effect on a Dutch family of predictive DNA-testing for hereditary breast and ovarian cancer

artículo científico publicado en 1994

Embryonic lethality in the Brca1-1700T mouse model suggests inhibition of p53-dependent pathways.

artículo científico publicado en 2000

Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort

artículo científico publicado en 2009

Erratum to: Making sense of big data in health research: towards an EU action plan

artículo científico publicado en 2016

Erratum: COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

article

Erratum: Identification of the breast cancer susceptibility gene BRCA2

artículo científico publicado en 1996

Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation

artículo científico publicado en 2018

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

artículo científico publicado en 2002

Ever since Knudson

artículo científico publicado en 2001

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

artículo científico publicado en 2010

Evidence for a gene on 17p13.3, distal to TP53, as a target for allele loss in breast tumors without p53 mutations.

artículo científico publicado en 1994

Evidence for limited molecular genetic heterogeneity as defined by allelotyping and clonal analysis in nine metastatic breast carcinomas

scientific article published on 01 August 1993

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

artículo científico publicado en 2014

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 sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling

artículo científico publicado en 2013

Extending the p16-Leiden tumour spectrum by respiratory tract tumours

artículo científico publicado en 2004

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

artículo científico publicado en 2011

Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q.

artículo científico publicado en 1994

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

artículo científico publicado en 2014

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

artículo científico publicado en 2013

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)

artículo científico publicado en 1996

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

artículo científico publicado en 2009

Founder Effect at PGL1 in Hereditary Head and Neck Paraganglioma Families from The Netherlands ⬇️

artículo científico publicado el 1 de agosto de 1998

Fractional allelic imbalance in human breast cancer increases with tetraploidization and chromosome loss

artículo científico publicado el 20 de febrero de 1992

Frequent somatic imbalance of marker alleles for chromosome 1 in human primary breast carcinoma ⬇️

artículo científico publicado el 1 de febrero de 1991

From gene to disease; from BRCA1 or BRCA2 to breast cancer

artículo científico publicado en 2000

Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.

artículo científico publicado en 2016

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

scientific article published on 22 November 2019

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

artículo científico publicado en 2021

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

artículo científico publicado en 2016

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

artículo científico publicado en 2013

Gene-panel sequencing and the prediction of breast-cancer risk

artículo científico publicado en 2015

Genes responsible for familial breast cancer

artículo científico publicado en 1996

Genetic analysis of a breast-ovarian cancer family, with 7 cases of colorectal cancer linked toBRCA1, fails to support a role forBRCA1 in colorectal tumorigenesis

scientific article published on 01 December 2000

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

artículo científico publicado en 1998

Genetic heterogeneity of breast-ovarian cancer revisited. Breast Cancer Linkage Consortium

artículo científico publicado en 1995

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

scientific article published on 06 October 2016

Genetic predisposition to ductal carcinoma in situ of the breast

artículo científico publicado en 2016

Genetic susceptibility for breast cancer: how many more genes to be found?

artículo científico publicado en 2007

Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

scholarly article by Annemieke W J Opstal-van Winden et al published 7 March 2019 in Blood

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

artículo científico publicado en 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

artículo científico publicado en 2016

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

artículo científico publicado en 2015

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 association study identifies novel breast cancer susceptibility loci

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus

artículo científico publicado en 2008

Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Genomic structure of the human PLZF gene

artículo científico publicado en 1999

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

artículo científico publicado en 2020

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

artículo científico publicado en 2021

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

artículo científico publicado en 1998

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

artículo científico publicado en 2015

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

artículo científico publicado en 2008

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

artículo científico publicado en 2015

High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium

artículo científico publicado en 2016

HindIIIpolymorphism in the DCC gene ⬇️

artículo científico publicado el 25 de diciembre de 1991

Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes

artículo científico publicado en 2022

IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Identification of an EWS-pseudogene using translocation detection by RT-PCR in Ewing's sarcoma.

artículo científico publicado en 1995

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

Improved interpretation of complex chromosomal rearrangements by combined GTG banding and in situ suppression hybridization using chromosome-specific libraries and cosmid probes

artículo científico publicado en 1991

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

artículo científico

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

artículo científico publicado en 2022

Increased HIF1α in SDH and FH deficient tumors does not cause microsatellite instability

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer

artículo científico publicado en 2010

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

artículo científico publicado en 2015

Initial Dutch results with a presymptomatic DNA tests in familial breast/ovarian carcinoma. Rotterdamse Werkgroep voor Erfelijke Tumoren

artículo científico publicado en 1995

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

artículo científico publicado en 2011

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

artículo científico publicado en 2001

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

artículo científico publicado en 2001

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Leiden Open Variation Database of the MUTYH gene

artículo científico publicado en 2010

Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer.

artículo científico publicado en 1999

Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds

artículo científico publicado en 1993

Localization and polymorphism of a chromosome 12-specific alpha satellite DNA sequence

artículo científico publicado en 1990

Loss of heterozygosity at 7q31 in breast cancer: results from an International Collaborative Study Group. The Breast Cancer Somatic Genetics Consortium

artículo científico publicado en 1997

Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13.

artículo científico publicado en 1995

Loss of heterozygosity on 17p in human breast carcinomas: defining the smallest common region of deletion

artículo científico publicado en 1990

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

artículo científico publicado en 2002

MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk

artículo científico publicado en 2012

MUTYH gene variants and breast cancer in a Dutch case–control study

artículo científico publicado en 2012

Making sense of big data in health research: Towards an EU action plan

artículo científico publicado en 2016

Mapping of the breast basic conserved gene (D16S444E) to human chromosome band 16q24.3.

scientific article published on 01 January 1995

Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing

artículo científico publicado en 2001

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

artículo científico publicado en 2021

MicroRNA related polymorphisms and breast cancer risk

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Models of parent-of-origin tumorigenesis in hereditary paraganglioma

artículo científico

Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients

artículo científico publicado en 2009

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations

artículo científico publicado en 1998

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

artículo científico publicado en 2013

Mutant BRCA1 alleles transmission: different approaches and different biases

artículo científico publicado en 2005

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

artículo científico publicado en 2006

Mutation of SDHB is a cause of hypoxia-related high-altitude paraganglioma

artículo científico publicado en 2010

Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

artículo científico publicado en 2011

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

artículo científico publicado en 2000

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

artículo científico publicado en 2010

Mutations in exons 5-8 of the p53 gene, independent of their type and location, are associated with increased apoptosis and mitosis in invasive breast carcinoma

artículo científico publicado en 1999

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

artículo científico publicado en 2001

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

artículo científico publicado en 2009

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

artículo científico publicado en 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-founder BRCA1 mutations in Russian breast cancer patients

artículo científico publicado en 2010

Nuclear receptor NR4A1 promotes breast cancer invasion and metastasis by activating TGF-β signalling

artículo científico publicado en 2014

Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus

artículo científico publicado en 1996

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

artículo científico publicado en 2016

PCR-based microsatellite polymorphisms in the detection of loss of heterozygosity in fresh and archival tumour tissue

artículo científico publicado en 1993

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

artículo científico publicado en 2017

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations

artículo científico publicado en 2014

Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers

artículo científico publicado en 2004

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).

artículo científico publicado en 2014

Possible consequences of applying guidelines to healthy women with a family history of breast cancer

artículo científico publicado en 2003

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

scientific article published on 11 April 2020

Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2000

Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? Rotterdam/Leiden Genetics Working Group

artículo científico publicado en 1999

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients

artículo científico publicado en 2000

Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary

artículo científico publicado en 2000

Prognostic impact ofBRCA1 pathogenic andBRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma

Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups

artículo científico publicado en 2016

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

scientific article published on 24 September 2019

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

artículo científico publicado en 2018

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

scientific article published on 23 September 2019

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients

artículo científico publicado en 2010

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

artículo científico publicado en 2007

RAD51B in Familial Breast Cancer

artículo científico publicado en 2016

Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization

artículo científico publicado en 1990

Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

artículo científico publicado en 2014

Rare mutations in XRCC2 increase the risk of breast cancer

artículo científico publicado en 2012

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Recent developments in the molecular genetic understanding of breast cancer

artículo científico publicado en 1994

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

Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.

artículo científico publicado en 1999

Response: Table 1

article by Amanda B. Spurdle et al published 31 August 2016 in Journal of the National Cancer Institute

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

artículo científico publicado en 2009

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

artículo científico publicado en 2009

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families

artículo científico publicado en 2000

Selection of families for predictive testing for breast cancer

scientific article published on 01 October 1994

Sequence heterogeneity within the human alphoid repetitive DNA family

artículo científico publicado en 1986

Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene

artículo científico publicado en 2003

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis

artículo científico publicado en 2009

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma

artículo científico publicado en 2016

Somatic genetic changes on chromosome 18 in breast carcinomas: is the DCC gene involved?

artículo científico publicado en 1991

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

artículo científico publicado en 2015

Subtypes of familial breast tumours revealed by expression and copy number profiling

artículo científico publicado en 2009

Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy

artículo científico publicado en 2014

Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1 ⬇️

artículo científico publicado el 31 de enero de 1998

Survival in hereditary breast cancer associated with germline mutations of BRCA2.

artículo científico publicado en 1999

The "Psychosocial Aspects in Hereditary Cancer" questionnaire in women attending breast cancer genetic clinics: Psychometric validation across French-, German- and Spanish-language versions

scientific article published on 30 September 2019

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 BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

artículo científico publicado en 2018

The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

artículo científico publicado en 2010

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

scientific article published on 01 November 2019

The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

article

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

artículo científico publicado en 2005

The Warburg effect in 2012.

artículo científico

The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

artículo científico publicado en 2018

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients

artículo científico publicado en 2009

The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

artículo científico

The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2

artículo científico publicado en 1996

The role of genetic breast cancer susceptibility variants as prognostic factors

artículo científico publicado en 2012

Three germline mutations in the TP53 gene

artículo científico publicado en 1997

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

artículo científico publicado en 2020

Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant

artículo científico publicado en 2004

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21

artículo científico publicado en 1986

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

artículo científico publicado en 2022

Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

artículo científico publicado en 2017

Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort

artículo científico publicado en 2020

Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?

artículo científico publicado en 2010

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

artículo científico publicado en 2016

Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles

artículo científico publicado en 2013

[Cloning of the first gene for breast/ovarian cancer (BRCA1), mapping of a second gene locus (BRCA2) and consequences for clinical practice]

artículo científico publicado en 1995

[Periodical screening of families with a hereditary predisposition for breast carcinoma]

artículo científico publicado en 1993

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