Alvaro Monteiro
@accidentalgenet.bsky.social
Molecular Genetics, Genetic Epidemiology, Cancer predisposition
Pinned
Happy 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.com/sd/article/S...
ScienceDirect.com | Science, health and medical journals, full text articles and books.
authors.elsevier.com
September 18, 2025 at 6:13 PM
Happy 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.com/sd/article/S...
Reposted by Alvaro Monteiro
Congratulations 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
@kytsailab.bsky.social @moffittnews.bsky.social
Now online in Cancer Discovery @aacrjournals.bsky.social: An Autochthonous Model of Lung Cancer Identifies Requirements for Cellular Transformation in the Naked Mole-Rat - by Alyssa Shepard, Daniel Lester, @kissillab.bsky.social,
and colleagues doi.org/10.1158/2159... @moffittnews.bsky.social
and colleagues doi.org/10.1158/2159... @moffittnews.bsky.social
September 8, 2025 at 5:53 PM
Congratulations 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
@kytsailab.bsky.social @moffittnews.bsky.social
My corner of the Universe circa 1996 (New York City)
July 31, 2025 at 7:13 PM
My corner of the Universe circa 1996 (New York City)
The feeling when you realize your instruments are not up to par with your superpowers!
July 31, 2025 at 7:04 PM
The feeling when you realize your instruments are not up to par with your superpowers!
My corner of the universe circa 1992 (Rio de Janeiro)
July 31, 2025 at 7:03 PM
My corner of the universe circa 1992 (Rio de Janeiro)
Very excited to be in Chicago at the CureBRCA meeting to discuss issues important for BRCA carriers and prostate cancer!
May 29, 2025 at 4:04 PM
Very excited to be in Chicago at the CureBRCA meeting to discuss issues important for BRCA carriers and prostate cancer!
Smh, 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...
Elizabeth Holmes’s Partner Has a New Blood-Testing Start-Up www.nytimes.com/2025/05/10/b...
Elizabeth Holmes’s Partner Has a New Blood-Testing Start-Up
www.nytimes.com
May 10, 2025 at 5:21 PM
Smh, 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...
Elizabeth Holmes’s Partner Has a New Blood-Testing Start-Up www.nytimes.com/2025/05/10/b...
Reposted by Alvaro Monteiro
I'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_...
April 3, 2025 at 2:48 PM
I'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_...
Reposted by Alvaro Monteiro
A reminder: on BlueSky you need to repost in order to amplify, not simply 'like'.
March 8, 2025 at 3:12 AM
A reminder: on BlueSky you need to repost in order to amplify, not simply 'like'.
It 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.com/sd/article/S...
ScienceDirect.com | Science, health and medical journals, full text articles and books.
authors.elsevier.com
February 26, 2025 at 2:19 PM
It 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.com/sd/article/S...
Throwback Thursdays:
Taking my DNA out for a ride
Taking my DNA out for a ride
February 19, 2025 at 9:31 PM
Throwback Thursdays:
Taking my DNA out for a ride
Taking my DNA out for a ride
1/4
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.
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.
February 13, 2025 at 4:36 PM
1/4
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.
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.
Reposted by Alvaro Monteiro
Excited 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.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...
Saturation genome editing-based clinical classification of BRCA2 variants - Nature
CRISPR–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...
www.nature.com
January 9, 2025 at 1:52 AM
Excited 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.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...
Reposted by Alvaro Monteiro
Dr. Judy Garber shared the OlympiA Phase 3 trial results in today's #SABCS24 General Session. #olaparib #BRCA1 #BRCA2 #BreastCancer
December 11, 2024 at 5:48 PM
Dr. Judy Garber shared the OlympiA Phase 3 trial results in today's #SABCS24 General Session. #olaparib #BRCA1 #BRCA2 #BreastCancer
Sorry I will miss it! If you are in San Antonio - highly recommend!
Antonis Antoniou in San Antonio - with this alliteration who would miss it?
Antonis Antoniou in San Antonio - with this alliteration who would miss it?
Looking forward to speaking in this session today at #SABCS24 @sabcs.bsky.social on the latest work on CanRisk tools (www.canrisk.org) for breast cancer risk prediction, including adaptations to ethnically diverse populations.
@crukcamcentre.bsky.social
@crukcamcentre.bsky.social
December 12, 2024 at 1:36 PM
Sorry I will miss it! If you are in San Antonio - highly recommend!
Antonis Antoniou in San Antonio - with this alliteration who would miss it?
Antonis Antoniou in San Antonio - with this alliteration who would miss it?
Finally had some time to make some nice bentos! Trying to avoid slow death by cafeteria food!
December 10, 2024 at 1:41 PM
Finally had some time to make some nice bentos! Trying to avoid slow death by cafeteria food!
Reposted by Alvaro Monteiro
Good day for a fundraiser!
November 23, 2024 at 6:38 PM
Good day for a fundraiser!
Totally glued to Gregory Radick’s phenomenal book - after his fantastic talk at ASHG
November 22, 2024 at 3:21 PM
Totally glued to Gregory Radick’s phenomenal book - after his fantastic talk at ASHG
Reposted by Alvaro Monteiro
Check 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...
www.cell.com/iscience/ful...
SART1 modulates poly-(ADP-ribose) chain accumulation and PARP1 chromatin localization
Molecular biology; Cell biology; Omics
www.cell.com
November 19, 2024 at 8:26 PM
Check 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...
www.cell.com/iscience/ful...
Our latest is out! Proposes a new category of risk for BRCA1/2 variants: Reduced Penetrance Pathogenic Variants (RPPVs).
rdcu.be/dYWmp
rdcu.be/dYWmp
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
npj Precision Oncology - Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
rdcu.be
November 19, 2024 at 7:58 PM
Our latest is out! Proposes a new category of risk for BRCA1/2 variants: Reduced Penetrance Pathogenic Variants (RPPVs).
rdcu.be/dYWmp
rdcu.be/dYWmp
Look, I am in bluesky!
November 13, 2024 at 1:54 PM
Look, I am in bluesky!
Why not start with floating chromosomes?
November 12, 2024 at 6:29 PM
Why not start with floating chromosomes?