Alvaro Monteiro @accidentalgenet.bsky.social · 12hVery grateful to the incredible support from @pkcurebrca.bsky.social 000
Alvaro Monteiro @accidentalgenet.bsky.social · 16hTo be read listening to the great LKJ youtu.be/fN0i5KMlJ-8?...youtu.beTime ComeYouTube video by Linton Kwesi Johnson - Topic 000
Alvaro Monteiro @accidentalgenet.bsky.social · 16hVery happy to get this work out after many years in the making. Wonderful team effort from ENIGMA consortium members! authors.elsevier.com/sd/article/S...authors.elsevier.comLarge-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significanceCarriers of BRCA1 and BRCA2 pathogenic variants are at a significantly elevated risk for several cancers. Widespread germline genetic testing has led … 220
Alvaro Monteiro @accidentalgenet.bsky.social · 16hVery happy to get this work out after many years in the making. Wonderful team effort from ENIGMA consortium members! To be read listening to LKJ youtu.be/fN0i5KMlJ-8?...youtu.beTime ComeYouTube video by Linton Kwesi Johnson - Topic 010
Reposted by Alvaro MonteiroThales Nepomuceno @tcnepomuceno.bsky.social · 27/03/2026Drinks after a very productive poster session. @accidentalgenet.bsky.social #cshmeeting #PARPfamily 011
Reposted by Alvaro MonteiroThales Nepomuceno @tcnepomuceno.bsky.social · 28/03/2026Had a great week at the PARP Family & ADP-ribosylation meeting at Cold Spring Harbor—insightful discussions, inspiring science, and valuable connections. Heading home energized and ready to turn new ideas into action. 011
Alvaro Monteiro @accidentalgenet.bsky.social · 27/03/2026Happy to be back at @cshlnews.bsky.social for another fantastic meeting 030
Alvaro Monteiro @accidentalgenet.bsky.social · 13/03/2026Eagerly waiting for inclusion of PARP inhibitors' side effects predictions😁 110
Alvaro Monteiro @accidentalgenet.bsky.social · 13/03/2026Friday 13. Today is a great day to donate to @wikipedia.org I did, now it is your turn. Keep knowledge free! 001
Alvaro Monteiro @accidentalgenet.bsky.social · 10/02/2026To be read while listening to the Black Pumas www.youtube.com/watch?v=0G38...youtube.comBlack Pumas - Colors (Official Live Session)YouTube video by BlackPumasVEVO 000
Alvaro Monteiro @accidentalgenet.bsky.social · 10/02/2026Very glad to be part of this important discussion on the continuum of risk - with an awesome team! kwnsfk27.r.eu-west-1.awstrack.me/L0/https:%2F...kwnsfk27.r.eu-west-1.awstrack.mePlease wait whilst we redirect youAll content on this site: Copyright © 2026 Elsevier B.V., its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies. For all open access content, the relevant licensing terms apply. 100
Alvaro Monteiro @accidentalgenet.bsky.social · 19/12/2025to be read playing the Led Zeppelin's brilliant www.youtube.com/watch?v=HQmm...youtube.comLed Zeppelin - Whole Lotta Love (Official Music Video)YouTube video by Led Zeppelin 000
Alvaro Monteiro @accidentalgenet.bsky.social · 19/12/2025Very happy to report that our paper on the functional analysis of missense variants in the PALB2 WD40 domain is out! doi.org/10.1016/j.jb...doi.orgRedirecting 110
Alvaro Monteiro @accidentalgenet.bsky.social · 18/09/2025Happy to have contributed to one more step towards resolving Variants of Uncertain Significance in Cancer. ACMG/AMP guidelines for PALB2 authors.elsevier.com/sd/article/S...authors.elsevier.comScienceDirect.com | Science, health and medical journals, full text articles and books. 020
Reposted by Alvaro MonteiroKissil Lab @kissillab.bsky.social · 08/09/2025Congratulations to the team on all their hard work on developing this first of its kind model! @andreaventura.bsky.social @psalmotoxin.bsky.social @wtklab.bsky.social @kytsailab.bsky.social @moffittnews.bsky.social 1154
Alvaro Monteiro @accidentalgenet.bsky.social · 31/07/2025My corner of the Universe circa 1996 (New York City) 010
Alvaro Monteiro @accidentalgenet.bsky.social · 31/07/2025The feeling when you realize your instruments are not up to par with your superpowers! 000
Alvaro Monteiro @accidentalgenet.bsky.social · 31/07/2025My corner of the universe circa 1992 (Rio de Janeiro) 020
Alvaro Monteiro @accidentalgenet.bsky.social · 29/05/2025Very excited to be in Chicago at the CureBRCA meeting to discuss issues important for BRCA carriers and prostate cancer! 020
Alvaro Monteiro @accidentalgenet.bsky.social · 10/05/2025Smh, when you think things can’t get much worse… Elizabeth Holmes’s Partner Has a New Blood-Testing Start-Up www.nytimes.com/2025/05/10/b...nytimes.comElizabeth Holmes’s Partner Has a New Blood-Testing Start-Up 000
Reposted by Alvaro MonteiroElizabeth Atkinson @egatkinson.bsky.social · 03/04/2025I'm delighted to be part of this symposium, put on by University of Pennsylvania Perelman School of Medicine, and led by @bpasaniuc.bsky.social and @sarahtishkoff.bsky.social. See you in a few weeks! upenn.co1.qualtrics.com/jfe/form/SV_... 084
Reposted by Alvaro MonteiroPaul Pharoah @paulpharoah.bsky.social · 08/03/2025A reminder: on BlueSky you need to repost in order to amplify, not simply 'like'. 055
Alvaro Monteiro @accidentalgenet.bsky.social · 26/02/2025Great work led by Emilio Ugalde-Morales, K. Almstrup, P. Kanetsky, K. Nathanson and F. Wiklund (Testicular Cancer Consortium). Chipping away at the genetic factors associated with cancer! Read listening (loudly) to Os Alquimistas estão chegando with Jorge Ben Jor www.youtube.com/watch?v=0y1k...youtube.comJorge Ben Jor - Os alquimistas estão chegandoYouTube video by Jorge Ben Jor 000
Alvaro Monteiro @accidentalgenet.bsky.social · 26/02/2025It was great to contribute to this Transcriptome-wide associations study (TWAS) identifying genes associated with testicular cancer! authors.elsevier.com/sd/article/S...authors.elsevier.comScienceDirect.com | Science, health and medical journals, full text articles and books. 110
Alvaro Monteiro @accidentalgenet.bsky.social · 19/02/2025Throwback Thursdays: Taking my DNA out for a ride 000
Alvaro Monteiro @accidentalgenet.bsky.social · 13/02/20254/4 👉Read while listening (loud) to Blue Oyster Cult’s Veteran of the Psychic Wars: youtube.com/watch?v=jGKN... 👉Points to a scaffold/matrix attachment region (S/MAR) as a risk associated regulatory element and implicates BNC2 in ovarian cancer risk. 11:19 PM · Dec 2, 2018youtube.com 010
Alvaro Monteiro @accidentalgenet.bsky.social · 13/02/20253/4 Great work by graduate student Melissa Buckley (now PhD!) with an amazing group including @paulpharoah.bsky.social @lawrensonlab.bsky.social Simon_Gayther, Tom Sellers, @vigocarpathian.bsky.social @hsnajafabadi.bsky.social and the Ovarian Cancer Association Consortium. 141
Alvaro Monteiro @accidentalgenet.bsky.social · 13/02/20252/4 Our paper 'from association to function' (or as I call it, Road to Perdition): Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus is out: cancerres.aacrjournals.org/content/earl... Special thanks to over 45,000 women who generously provided their DNA!cancerres.aacrjournals.org 110
Alvaro Monteiro @accidentalgenet.bsky.social · 13/02/20251/4 Since I decided to leave the platform formerly known as twitter, I did not know how to leave behind my posts. So, decided to do Throwback Thursdays and re-post here my old tweeter posts. 132
Reposted by Alvaro MonteiroSounak Sahu @sounaksahu.bsky.social · 09/01/2025Excited to share our latest study in @nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...nature.comSaturation genome editing-based clinical classification of BRCA2 variants - NatureCRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and... 0175
Reposted by Alvaro MonteiroDana-Farber’s Breast Oncology Center @dfcibreastonc.bsky.social · 11/12/2024Dr. Judy Garber shared the OlympiA Phase 3 trial results in today's #SABCS24 General Session. #olaparib #BRCA1 #BRCA2 #BreastCancer 092
Alvaro Monteiro @accidentalgenet.bsky.social · 12/12/2024Sorry I will miss it! If you are in San Antonio - highly recommend! Antonis Antoniou in San Antonio - with this alliteration who would miss it? 020
Alvaro Monteiro @accidentalgenet.bsky.social · 10/12/2024Finally had some time to make some nice bentos! Trying to avoid slow death by cafeteria food! 120
Reposted by Alvaro MonteiroThales Nepomuceno @tcnepomuceno.bsky.social · 23/11/2024Good day for a fundraiser! 031
Alvaro Monteiro @accidentalgenet.bsky.social · 22/11/2024Totally glued to Gregory Radick’s phenomenal book - after his fantastic talk at ASHG 010
Alvaro Monteiro @accidentalgenet.bsky.social · 22/11/2024Would love to be added! Thanks so much for putting this together. 110
Reposted by Alvaro MonteiroThales Nepomuceno @tcnepomuceno.bsky.social · 19/11/2024Check out our latest paper on the role of SART1 as a modulator of PARP1 function. Samuele Lodovichi led this study at @accidentalgenet.bsky.social lab. www.cell.com/iscience/ful...cell.comSART1 modulates poly-(ADP-ribose) chain accumulation and PARP1 chromatin localizationMolecular biology; Cell biology; Omics 094
Alvaro Monteiro @accidentalgenet.bsky.social · 19/11/2024Great collaboration with @TuyaPalMD @FergusCouch Erin Mundt, T.J. Slavin @myriadgenetics Marcy Richardson, Tina Pesaran, Elizabeth Chao @AmbryGenetics To be read listening (very loud) to The Who www.youtube.com/watch?v=BfrU...youtube.comEminence FrontYouTube video by The Who - Topic 010
Alvaro Monteiro @accidentalgenet.bsky.social · 19/11/2024Our latest is out! Proposes a new category of risk for BRCA1/2 variants: Reduced Penetrance Pathogenic Variants (RPPVs). rdcu.be/dYWmprdcu.beReduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testingnpj Precision Oncology - Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing 152
Alvaro Monteiro @accidentalgenet.bsky.social · 12/11/2024Why not start with floating chromosomes? 170
