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List of works by Alvaro Monteiro

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An Interactive Resource to Probe Genetic Diversity and Estimated Ancestry in Cancer Cell Lines

scientific article published on 20 March 2019
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
Principles for the post-GWAS functional characterization of cancer risk loci

scientific article published in June 2011
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

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

scientific article published on April 2013
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

scientific article
BRCA1 regulates p53-dependent gene expression

scientific article
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011
Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

scientific article published on 3 November 2011
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

scientific article published on February 2001
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

scientific article published in June 2004
Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

scientific article published in 2013
Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study

scientific article
p53 acetylation is crucial for its transcription-independent proapoptotic functions

scientific article
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

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

scientific article published on January 2013
Assessment of functional effects of unclassified genetic variants

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

scientific article
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article
A guide for functional analysis of BRCA1 variants of uncertain significance

scientific article
BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

scientific article published on 07 July 2015
LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer

scientific article published on 11 April 2011
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

scientific article published on 26 December 2012
Classification of BRCA1 missense variants of unknown clinical significance

scientific article
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
Charting the landscape of tandem BRCT domain-mediated protein interactions

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

scientific article published in December 2016
Functional assays for analysis of variants of uncertain significance in BRCA2.

scientific article published on 03 December 2013
A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer

scientific article
Cancer variation associated with the position of the mutation in the BRCA2 gene

scientific article published in January 2004
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article
A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

scientific article published on 15 June 2016
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

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

scientific article published on 27 April 2016
Phosphatases in the cellular response to DNA damage.

scientific article
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

scientific article published on 25 October 2006
Functional assays for BRCA1 and BRCA2.

scientific article published on 18 August 2006
Functional impact of missense variants in BRCA1 predicted by supervised learning

scientific article
Proteome-wide Profiling of Clinical PARP Inhibitors Reveals Compound-Specific Secondary Targets

scientific article published on 9 November 2016
Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair

scientific article
The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective

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

scientific article published on 7 September 2016
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

scientific article published on 24 March 2015
BRCA1: the enigma of tissue-specific tumor development.

scientific article
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

scientific article published on 02 March 2016
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

scientific article
A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

scientific article
Common BRCA1 variants and transcriptional activation.

scientific article published in September 1997
Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

scientific article published on 22 September 2015

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