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List of works by Trinidad Caldes

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families

scientific article published on 3 May 2011

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

article

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

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 novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families.

scientific article published in June 2017

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

scientific article published on 18 June 2018

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

scientific article published on May 2014

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

scientific article published on 02 December 2019

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

scientific article published on 19 March 2019

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

scientific article published on 5 November 2009

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

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

scientific article published in October 2003

Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

article

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

scientific article

Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

scientific article published on 25 February 2011

Ask the Experts: NICE guidance on the diagnosis and treatment of colorectal cancer

scientific article published in August 2012

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

scientific article

Association Between BRCA1 Mutations and Ratio of Female to Male Births in Offspring of Families With Breast Cancer, Ovarian Cancer, or Both

scientific article published in The Journal of the American Medical Association

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

scientific article

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

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

scientific article published in February 2002

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

scientific article published on 13 November 2019

Association of MUTYH and MSH6 germline mutations in colorectal cancer patients.

scientific article published on 15 August 2009

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

scientific article published on 27 May 2016

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

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 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

BRCA1 Alternative splicing landscape in breast tissue samples.

scientific article

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

scientific article

BRCA2 gene mutations and coagulation-associated biomarkers

scientific article published in March 2016

BRIP1, a gene potentially implicated in Familial Colorectal Cancer Type X

scientific article published on 28 October 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 cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast-Cancer Stromal Cells withTP53Mutations and Nodal Metastases

scientific article published on 01 December 2007

Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer

scientific article published on 6 September 2013

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

scientific article published on 28 October 2013

Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers

scientific article published on 7 February 2012

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

scientific article

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

scientific article published on 21 March 2012

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

Clustering of cancer-related mutations in a subset ofBRCA1alleles: A study in the Spanish population

article

Colon cancer molecular subtypes identified by expression profiling and associated to stroma, mucinous type and different clinical behavior.

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-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 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 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 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 mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

scientific article published on 25 February 2014

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

scientific article published on 08 July 2019

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 26 February 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: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on 01 January 2019

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

scientific article

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer

scientific article published on 03 August 2018

Effect of high RNA concentrations in real time reverse transcription quantitative polymerase chain reaction (RT-qPCR) yields.

scientific article

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

scientific article published on February 2017

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

scientific article published on 7 October 2013

Evidence for a link between TNFRSF11A and risk of breast cancer

article

Exploring the link between MORF4L1 and risk of breast cancer

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 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

Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

scientific article published on 11 September 2013

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

scientific article published on 7 September 2016

GERMLINE MUTATIONS IN FAF1 ARE ASSOCIATED WITH HEREDITARY COLORECTAL CANCER

scientific article published on 13 March 2020

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

scientific article

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 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 linkage scan reveals three putative breast-cancer-susceptibility loci

scientific article published on 15 January 2009

Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

scientific article published on 22 June 2006

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

scientific article

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

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

scientific article

Identification of E545k mutation in plasma from a PIK3CA wild-type metastatic breast cancer patient by array-based digital polymerase chain reaction: Circulating-free DNA a powerful tool for biomarker testing in advance disease

scientific article published on 27 April 2015

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

scientific article published on 27 March 2013

Identification of a Chromosome 10 Region Potentially Implicated in Hereditary Non-Polyposis Colorectal Cancer Without Mismatch Repair Mutations

scholarly article published in May 2011

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

scientific article published on 27 April 2016

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

scientific article

Identification of 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

Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer.

scientific article

Increased frequency of disease-causing MYH mutations in colon cancer families

scientific article

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

scientific article

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

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

scientific article

Lack of Germ-line Mutations at the Specific BRCA1-IRIS Coding Sequence in 114 Spanish High-risk Breast/ovarian Families

scientific article published in November 2005

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

Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

scientific article

Loss of heterozygosity analysis at theBRCAloci in tumor samples from patients with familial breast cancer

article

Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families.

scientific article published on 05 December 2012

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

scientific article published on October 2005

MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

article

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

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

Microsatellite instability correlates with negative expression of estrogen and progesterone receptors in sporadic breast cancer

scientific article published in 2000

Molecular analysis of colorectal cancer tumors from patients with mismatch repair proficient hereditary nonpolyposis colorectal cancer suggests novel carcinogenic pathways.

scientific article published on October 2007

Molecular haplotyping of tandem single nucleotide polymorphisms by allele-specific PCR

scientific article published in May 2007

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

Mutant BRCA1 alleles transmission: different approaches and different biases

scientific article published in January 2005

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

New genes emerging for colorectal cancer predisposition

scientific article published on February 2014

No mutations in theXRCC2gene inBRCA1/2-negative high-risk breast cancer families

article

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

scientific article published in PLoS ONE

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

scientific article published on 01 April 2018

Oral contraceptives and breast cancer risk in the international BRCA1/2 carrier cohort study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group

scientific article

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

scientific article

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

scientific article published on 01 June 2003

Overexpression of SPARC protein contrasts with its transcriptional silencing by aberrant hypermethylation of SPARC CpG-rich region in endometrial carcinoma

scientific article published on 01 June 2007

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 16 April 2009

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

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

scientific article published on 15 July 2020

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

scientific article

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

article

Prevalence of germline mutations ofMLH1 andMSH2 in hereditary nonpolyposis colorectal cancer families from Spain

article

Prognostic Value of BRAF, PI3K, PTEN, EGFR Copy Number, Amphiregulin and Epiregulin Status in Patients with KRAS Codon 12 Wild-Type Metastatic Colorectal Cancer Receiving First-Line Chemotherapy with Anti-EGFR Therapy.

scientific article published on 4 September 2015

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

scientific article published on 23 September 2019

RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

scientific article published on 13 March 2019

Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.

scientific article published on 20 December 2017

Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer.

scientific article

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

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study

scientific article

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

scientific article published on 16 January 2020

Risk-reduction surgery in BRCA mutation carriers in a Spanish population: adherence and results.

scientific article published in October 2008

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

scientific article published on June 2017

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

scientific article published on 2 November 2017

SETD6 dominant negative mutation in familial colorectal cancer type X.

scientific article published on 30 August 2017

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

scientific article published on 25 October 2006

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.

scientific article published on 6 April 2012

Somatic acquisition and signaling of TGFBR1*6A in cancer

scientific article

Study of KRAS new predictive marker in a clinical laboratory

scientific article published on 03 August 2012

TGFBR1*6A and cancer: a meta-analysis of 12 case-control studies

scientific article published in February 2004

TGFBR1*6A may contribute to hereditary colorectal cancer

scientific article published in May 2005

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

scientific article published on 05 August 2013

The CHEK2 1100delC allele is not relevant for risk assessment in HNPCC and HBCC Spanish families

scientific article published in June 2005

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

scientific article published on 01 November 2019

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

scientific article

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

The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain

scientific article published in May 2008

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

article

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

scientific article published on 8 March 2011

The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

scientific article

Topoisomerase 2 alpha: a real predictor of anthracycline efficacy?

scientific article published on March 2012

Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

scientific article

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

scientific article published on 01 March 2020

Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging.

scientific article

Update on genetic predisposition to colorectal cancer and polyposis

scientific article published on 18 March 2019

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer

scientific article published on 06 November 2019

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

scientific article

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

scientific article published on 24 July 2014

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