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List of works by Alvaro Monteiro

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

scientific article

A functional variant in HOXA11-AS, a novel long non-coding RNA, inhibits the oncogenic phenotype of epithelial ovarian cancer

scientific article

A guide for functional analysis of BRCA1 variants of uncertain significance

scientific article

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

scientific article

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

scientific article published on 15 June 2016

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein

scientific article published on September 2002

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

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

scientific article

A targeted genetic association study of epithelial ovarian cancer susceptibility

scientific article published on February 2016

A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants

scientific article published on 01 May 2019

Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families

scientific article

Abstract 5483: Implications of the type ofBRCA1germline mutation in the treatment of patients with hereditary breast cancer

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

scientific article published on 20 March 2019

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

scientific article published on 17 October 2008

Assessment of functional effects of unclassified genetic variants

scientific article

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

scientific article published on 17 January 2018

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

scientific article

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

scientific article published on 07 July 2015

BRCA1 in breast and ovarian cancer predisposition

scientific article

BRCA1 protein and nucleolin colocalize in breast carcinoma tissue and cancer cell lines

scientific article

BRCA1 recruitment to damaged DNA sites is dependent on CDK9.

scientific article

BRCA1 regulates p53-dependent gene expression

scientific article

BRCA1: the enigma of tissue-specific tumor development.

scientific article

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

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

scientific article

BRCT domains: A little more than kin, and less than kind

scientific article (publication date: 14 August 2012)

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

scientific article published on 26 December 2012

Brain tumor risk according to germ-line variation in the MLLT10 locus

scientific article

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

scientific article published on 11 January 2022

CHEKing out of mitosis.

scientific article

CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI.

scientific article published on 19 June 2019

Can the status of the breast and ovarian cancer susceptibility gene 1 product (BRCA1) predict response to taxane-based cancer therapy?

scientific article published on June 2009

Cancer risk assessment at the atomic level

scientific article published on 01 February 2006

Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status

scientific article published on 14 October 2005

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

scientific article published in January 2004

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

scientific article published on 24 March 2015

Characterization of LGALS3 (galectin-3) as a player in DNA damage response.

scientific article published on 22 April 2014

Charting the landscape of tandem BRCT domain-mediated protein interactions

scientific article

Circadian pathway genes in relation to glioma risk and outcome

scientific article published on 18 October 2013

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

scientific article published on 22 September 2015

Classification of BRCA1 missense variants of unknown clinical significance

scientific article

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

scientific article published on 15 February 2018

Common BRCA1 variants and transcriptional activation.

scientific article published in September 1997

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

scientific article published on 19 June 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

scientific article

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

scientific article

Complement-dependent induction of DNA synthesis and cell proliferation in human liver connective tissue cells in vitro

scientific article published on 01 February 1995

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

scientific article

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

scientific article published on 08 June 2018

Correction: functional analysis of BRCA1 M1628V variant.

scientific article published on 20 February 2007

DNA damage response: determining the fate of phosphorylated histone H2AX

scientific article published on 20 February 2006

DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis

scientific article published on 5 May 2017

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

scientific article

Differences in BRCA counseling and testing practices based on ordering provider type

scientific article

Dual Targeting of WEE1 and PLK1 by AZD1775 Elicits Single Agent Cellular Anticancer Activity.

scientific article published on 30 May 2017

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

Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics

scientific article published on 16 January 2013

Early transcriptional response of human ovarian and fallopian tube surface epithelial cells to norepinephrine.

scientific article

Ectopic expression of histone H2AX mutants reveals a role for its post-translational modifications

scientific article published on 9 March 2009

Enhancer scanning to locate regulatory regions in genomic loci

scientific article

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

scientific article published on 19 January 2017

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

scientific article published in 2013

Epigenetic tumor suppression by BRCA1

scientific article published on 11 October 2011

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

scientific article

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

scientific article published on 4 July 2016

Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.

scientific article

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

scientific article published on February 2001

Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility ⬇️

scientific article

Functional and structural analysis of C-terminal BRCA1 missense variants

scientific article

Functional annotation signatures of disease susceptibility loci improve SNP association analysis

scientific article

Functional assays for BRCA1 and BRCA2.

scientific article published on 18 August 2006

Functional assays for analysis of variants of uncertain significance in BRCA2.

scientific article published on 03 December 2013

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

scientific article published on 02 March 2016

Functional characterization of 84 PALB2 variants of uncertain significance

scientific article published on 21 October 2019

Functional impact of missense variants in BRCA1 predicted by supervised learning

scientific article

Functional implications of BRCA1 for early detection, prevention, and treatment of breast cancer.

scientific article published on January 2006

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

scientific article published on 7 September 2016

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

scientific article published on April 2013

Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

scientific article published on 17 December 2018

Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study

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

Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk

scientific article published on 04 April 2019

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.

scientific article

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.

scientific article published on 13 October 2016

Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico

scientific article published on 28 November 2019

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

scientific article published on January 2013

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

scientific article

Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair

scientific article

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

scientific article published on 27 April 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

scientific article published on 14 February 2019

In vitro formation of fibrous septa by liver connective tissue cells.

scientific article published in January 1987

Incorporating computational resources in a cancer research program

scientific article

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

scientific article published on July 2016

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

scientific article

Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci

scientific article

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

scientific article published on 22 October 2020

Interaction of human liver connective tissue cells, skin fibroblasts and smooth muscle cells with collagen gels

scientific article published on 01 July 1987

Interleukin polymorphisms associated with overall survival, disease-free survival, and recurrence in non-small cell lung cancer patients.

scientific article published on 18 January 2015

Involvement of the SH3 domain in Ca2+-mediated regulation of Src family kinases.

scientific article

LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer

scientific article published on 11 April 2011

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

Lessons from postgenome-wide association studies: functional analysis of cancer predisposition loci

scientific article

Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations

scientific article

Long-term culture of cholangiocytes from liver fibro-granulomatous lesions

scientific article

Methods to classify BRCA1 variants of uncertain clinical significance: the more the merrier

scientific article

Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers ⬇️

scientific article published on March 21, 2013

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

scientific article published on April 2013

Mutational heterogeneity in non-serous ovarian cancers

scientific article published on 29 August 2017

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation

scientific article published on 01 September 2002

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

scientific article

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis

scientific article published on 22 January 2018

Norepinephrine-Induced DNA Damage in Ovarian Cancer Cells

scientific article published on 24 March 2020

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

scientific article published in December 2016

PAXIP1 Potentiates the Combination of WEE1 Inhibitor AZD1775 and Platinum Agents in Lung Cancer.

scientific article published on 11 May 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

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

Principles for the post-GWAS functional characterization of cancer risk loci

scientific article published in June 2011

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

scientific article (publication date: 2014)

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

scientific article published on 9 November 2016

RareTP53genetic variant associated with glioma risk and outcome ⬇️

scientific article published on June 15, 2012

Response: Table 1

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

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

scientific article published in June 2004

TGF beta1 and PDGF AA override collagen type I inhibition of proliferation in human liver connective tissue cells

scientific article

Tandem BRCT Domains: DNA's Praetorian Guard.

scientific article

The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews.

scientific article published on January 2006

The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.

scientific article published on 31 August 2017

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

scientific article

Understanding germ-line mutations in BRCA1.

scientific article published in June 2004

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

scientific article published in PLoS ONE

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

scientific article published on 09 March 2020

What can yeast tell us about breast cancer?

scientific article published on 22 December 2016

Yeast two-hybrid junk sequences contain selected linear motifs

scientific article

p53 acetylation is crucial for its transcription-independent proapoptotic functions

scientific article

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