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Author Details

Alvaro N A Monteiro
H. Lee Moffitt Cancer Center & Research Institute
1985
174
49
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36454217A pilot study to evaluate tissue- and plasma-based DNA driver mutations in a cohort of patients with pancreatic intraductal papillary mucinous neoplasms.G3 (Bethesda)2023
37718511BRCA1 frameshift variants leading to extended incorrect protein C termini.HGG Adv2023
34320204Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.J Natl Cancer Inst2022
35653140Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer.Clin Cancer Res2022
35736817Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.Clin Cancer Res2022
35837282Functional Restoration of <i>BRCA1</i> Nonsense Mutations by Aminoglycoside-Induced Readthrough.Front Pharmacol2022
35762214Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.Hum Mutat2022
35665744An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.NPJ Genom Med2022
35758832The role of neck ultrasound in the follow-up of low- and intermediate- risk papillary thyroid cancer.Arch Endocrinol Metab2022
36210504Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.J Natl Cancer Inst2022
36171434Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.Sci Rep2022
34803163Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus.Eur J Hum Genet2022
34329582The non-canonical target PARP16 contributes to polypharmacology of the PARP inhibitor talazoparib and its synergy with WEE1 inhibitors.Cell Chem Biol2022
33139182PALB2 Variants: Protein Domains and Cancer Susceptibility.Trends Cancer2021
33609447Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.Am J Hum Genet2021
34475121Scratching Below the Ovarian Cancer GWAS Surface.Cancer Epidemiol Biomarkers Prev2021
34253763Effects of long-term norepinephrine treatment on normal immortalized ovarian and fallopian tube cells.Sci Rep2021
33087888Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.Genet Med2021
32319712Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.Breast J2020
31936331Network of Interactions between ZIKA Virus Non-Structural Proteins and Human Host Proteins.Cells2020
31636395Functional characterization of 84 PALB2 variants of uncertain significance.Genet Med2020
32152249Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.J Med Genet2020
30487138Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.Cancer Res2019
31780696Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.Sci Rep2019
31711518DNA damage response and repair in perspective: Aedes aegypti, Drosophila melanogaster and Homo sapiens.Parasit Vectors2019
29884841Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.Genet Med2019
31586400A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.Nucleic Acids Res2019
31240132CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI.Cell Death Discov2019
31099399epiTAD: a web application for visualizing chromosome conformation capture data in the context of genetic epidemiology.Bioinformatics2019
31043753A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants.Nat Genet2019
31013702Germline Missense Variants in <i>BRCA1</i>: New Trends and Challenges for Clinical Annotation.Cancers (Basel)2019
30894373An Interactive Resource to Probe Genetic Diversity and Estimated Ancestry in Cancer Cell Lines.Cancer Res2019
30948450Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.Cancer Epidemiol Biomarkers Prev2019
30765603Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.J Biol Chem2019
31001917Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American Women.Cancer Med2019
30962250Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.J Med Genet2019
29394989Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.Am J Hum Genet2018
29979793Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.PLoS One2018
29844388Early transcriptional response of human ovarian and fallopian tube surface epithelial cells to norepinephrine.Sci Rep2018
29356578No Evidence for the Pathogenicity of the BRCA2 c.6937â¿¿+â¿¿594T&gt;G Deep Intronic Variant: A Case-Control Analysis.Genet Test Mol Biomarkers2018
29479477Clinical testing of <i>BRCA1</i> and <i>BRCA2</i>: a worldwide snapshot of technological practices.NPJ Genom Med2018
28035019Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci.Cancer Epidemiol Biomarkers Prev2017
28278048BRCA1 recruitment to damaged DNA sites is dependent on CDK9.Cell Cycle2017
28103614Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci.Br J Cancer2017
28475402DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.Cancer Biol Ther2017
28346442Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.Nat Genet2017
28177912Dissecting genetic risk factors in breast cancer.Oncotarget2017
28283652<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.Cancer Res2017
28858227The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.Int J Mol Sci2017
28852190Mutational heterogeneity in non-serous ovarian cancers.Sci Rep2017
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Collaborators

Fergus J Couch
Mayo Clinic
Co-authored papers 42
Marcelo A Carvalho
Instituto Nacional de Cancer, Programa de Pesquisa Clinica
Co-authored papers 34
Simon A Gayther
Cedars-Sinai Medical Center
Co-authored papers 30
Paul D P Pharoah
Center for Cancer Genetic Epidemiology, University of Cambridge
Co-authored papers 29
Ellen L Goode
Mayo Clinic College of Medicine
Co-authored papers 28
Joellen M Schildkraut
Rollins School of Public Health, Emory University
Co-authored papers 27
Susan J Ramus
School of Clinical Medicine, University of NSW Sydney, Lowy Cancer Research Centre
Co-authored papers 26
Jennifer A Doherty
Huntsman Cancer Institute, University of Utah
Co-authored papers 25
Andrew Berchuck
Duke School of Medicine
Co-authored papers 25
Georgia Chenevix-Trench
QIMR Berghofer Medical Research Institute
Co-authored papers 25
Hoda Anton-Culver
University of California irvine
Co-authored papers 25
David E Goldgar
University of Utah
Co-authored papers 24
Jan Lubinski
Pomeranian Medical University
Co-authored papers 24
Diether Lambrechts
Co-authored papers 24
Celeste Leigh Pearce
University of Michigan School of Public Health ann arbor
Co-authored papers 24
Anna H Wu
University of Southern California
Co-authored papers 24
Beth Y Karlan
David Geffen School of Medicine, University of California los angeles
Co-authored papers 24
Nicolas Wentzensen
National Cancer Institute, National Institutes of Health
Co-authored papers 23
Tanja Pejovic
Oregon Health & Science University
Co-authored papers 23
Douglas F Easton
University of Cambridge
Co-authored papers 23
Jennifer B Permuth
Moffitt Cancer Center
Co-authored papers 23
Usha Menon
College of Nursing, University of South Florida
Co-authored papers 23
Jacek Gronwald
International Hereditary Cancer Center, Pomeranian Medical University
Co-authored papers 23
Peter A Fasching
Otto-Friedrich-University Bamberg
Co-authored papers 23
Marc T Goodman
Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center
Co-authored papers 23
Honglin Song
University of Cambridge
Co-authored papers 23
Mary Anne Rossing
Fred Hutchinson Cancer Research Center
Co-authored papers 23
Jenny Chang-Claude
German Cancer Research Center (DKFZ)
Co-authored papers 23
Alice S Whittemore
Co-authored papers 22
Ian G Campbell
Co-authored papers 22
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