#palb2
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esashilab.bsky.social
We are delighted to share our latest work, characterising the role of BRCA2 and its binding partner PALB2 at centromeres, just out in the latest issue of Cell Reports. ⬇️

www.cell.com/cell-reports...
The homologous recombination factors BRCA2 and PALB2 interplay with mismatch repair pathways to maintain centromere stability and cell viability
Graham et al. demonstrate that BRCA2 and PALB2 protect centromere integrity in non-cancerous cells through distinct mechanisms, partly counteracting the mismatch repair factor MLH1. In cancer cells, B...
www.cell.com
February 25, 2025 at 5:56 PM
milajuzbylam.bsky.social
W badanej próbce DNA nie stwierdzono nosicielstwa mutacji BRCA1,CHEK2,PALB2.
W testach DNA zmian nie wykryto.
Powinnam się cieszyć,i właśnie się cieszę.
Napiłabym się ale na razie nie mogę. Kiedyś.
November 20, 2024 at 3:21 PM
rachaelanneomps.bsky.social
#palb2
March 8, 2025 at 2:34 AM
draylab.bsky.social
Beautiful new story from Neil Johnson's lab, hard work driven by Wang, many collaborators incl' Jean Yves Masson, and small contribution from us. Super happy to see this in press! PALB2 and 53BP1 govern post-resection homologous recombination DNA repair: Molecular Cell www.cell.com/molecular-ce...
PALB2 and 53BP1 govern post-resection homologous recombination DNA repair
Wang et al. demonstrate that the PALB2 CC domain has single-stranded (ss)DNA-binding activity that is essential for PALB2 and RAD51 to form DNA-damage foci. By creating Palb2 CC-mutated mice, they fou...
www.cell.com
August 1, 2025 at 3:53 AM
haicovanattikum.bsky.social
We present a site‑saturation functional screens of missense variants in the high-risk breast cancer susceptibility gene PALB2. Damaging missense variants confer a high risk of breast cancer! Thanks to all co-authors and to KWF for financially supporting our work!

www.nature.com/articles/s41...
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk - Nature Communications
The impact of variants of uncertain significance (VUS) on protein function and cancer risk remain unclear. Here, the authors focus on the functional impact of VUS of the PALB2 gene and identify defect...
www.nature.com
January 28, 2026 at 10:18 AM
yukselurun.bsky.social
Mechanisms of resistance to PARP inhibitors in advanced prostate cancer with BRCA2/PALB2 alterations: Reversion mutations emerge within 16 weeks. These associate with disease progression and survival.
#Cancer #Oncology @oncoalert.bsky.social @apccc.bsky.social
www.sciencedirect.com/science/arti...
November 23, 2024 at 2:13 AM
haoyin.bsky.social
Pathogenic Germline Variants in Patients With #MetaplasticBreastCancer

N=143
24 with breast cancer genes
17 BRCA1
5 BRCA2
1 PALB2
1 CHEK

Look forward to #WholeGenomeSequencing for MpBC, both germline & somatic🙏

#JAMANetworkOpen 2025
jamanetwork.com/journals/jam...
May 4, 2025 at 6:54 PM
rachaelanneomps.bsky.social
youtu.be/tclrh5QCmhI?...

#palb2 #cancer #awareness #geneticmutation #genetic #gene #prevention
PALB2 (Part 1)
YouTube video by Rachael
youtu.be
June 9, 2025 at 12:47 AM
eshg.bsky.social
👥New from ClinGen: The Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel has released PALB2-specific ACMG/AMP variant interpretation guidelines for accurate classification of PALB2 germline sequence variants.
Full guidelines: www.cell.com/ajhg/fulltex...
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
The HBOP VCEP developed PALB2-specific ACMG/AMP variant interpretation guidelines by tailoring, limiting, or removing existing codes. Testing on 39 pilot variants improved concordance with ClinVar…
www.cell.com
September 23, 2025 at 5:30 AM
tmprowell.bsky.social
The number of people needed to test (NNT) to detect one mutation was 19 considering BRCA1/2 & PALB2 alone. Considering all mutations, the NNT was 14.

🔑 Everyone diagnosed w/ #breastcancer should have genetic testing regardless of age, sex, BC subtype, or stage.

#bcsm #OncoSky #MedSky #Genetics
November 12, 2024 at 12:45 PM
apccc.bsky.social
Elucidating acquired PARP inh resistance
sciencedirect.com/science/arti...

Highlights emergence of resistance in met CR #ProstateCancer tx w/ PARP inh💊, particularly in BRCA2 & PALB2 mutations🧬

@drnataliagandur.bsky.social
@barbaramelao.bsky.social
@achoud72.bsky.social
@yukselurun.bsky.social
Elucidating acquired PARP inhibitor resistance in advanced prostate cancer
PARP inhibition (PARPi) has anti-tumor activity against castration-resistant prostate cancer (CRPC) with homologous recombination repair (HRR) defects…
sciencedirect.com
November 26, 2024 at 6:04 PM
purplepurpose.bsky.social
🟣 Pancreas Cancer Awareness 🟣

Early Detection Saves Lives! Signs of Pancreatic Cancer: abdominal/back pain, nausea, weight loss, bloating, stool change, jaundice, new onset diabetes. Family history too. Germine mutations in PDAC include BRCA1, BRCA2, PALB2, CDK2A, ATM, & TP53.

Happy Holidays all.
December 24, 2025 at 2:01 PM
rielymd.bsky.social
Overview of molecular characteristics of pancreatic cancer from @mskcancercenter.bsky.social @mskdeptofmed.bsky.social with useful data. Reminder that KRAS is 95% of pancreatic cancer (~1% G12C), 10% have germline pathogenic alterations (e.g. BRCA1/2, ATM, PALB2). www.nature.com/articles/s41...
Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival - Nature Medicine
Analyses of clinical and genomic data from a cohort of 2,336 patients with pancreatic adenocarcinoma find that KRAS dosage gains are a hallmark of disease progression and are predictive of poor outcom...
www.nature.com
January 6, 2025 at 2:06 PM
tmprowell.bsky.social
🧵#Oncology #bcsm #MedSky

NEW Study of genetic testing in 729 ppl w/ any stg new #breastcancer:

👉7.3% had def/likely pathogenic mutation
👉5.3% were BRCA 1/2 or PALB2 (1/3 PARPi-eligible)

Highest odds: fam w/ ovarian ca (9.8x), age <40 (6.8x), TNBC (3.2x).

jamanetwork.com/journals/jam...
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer
This cross-sectional study evaluates the prevalence and clinicopathological associations of germline pathogenic or likely pathogenic variants in 2 groups of breast cancer susceptibility genes among a ...
jamanetwork.com
November 12, 2024 at 12:43 PM
jci.org
A proof-of-concept study for determining the functional impact of variants of uncertain significance (VUS)!

Muthiah Bose et al. used CRISPR-Select as a tool in the classification of rare VUS in the PALB2-binding domain of BRCA2: buff.ly/oFc574N
June 21, 2025 at 12:04 PM
liangrhea.bsky.social
To put this in perspective, the bare cost of the 3-gene panel used in this study (BRCA1, BRCA2, PALB2) is around AUD$400 (~£200), plus the costs of the pre- and post- consultation by a doctor or genetic counsellor.
August 8, 2026 at 7:14 AM
oncodaily.bsky.social
CancerWorld - What If Your DNA Could Help Prevent Cancer, Before It Even Starts?

oncodaily.com/blog/prevent...

#OncoDaily #Oncology #Cancer #Health #Medicine #MedEd #MedOnc #MedNews #CancerWorld #DNA #BRCA1 #PALB2 #TP53
What If Your DNA Could Help Prevent Cancer, Before It Even Starts? - CancerWorld - OncoDaily
What If Your DNA Could Help Prevent Cancer, Before It Even Starts? - CancerWorld / BRCA1, cancer, Cancerworld, OncoDaily, Oncology, PALB2, TP53
oncodaily.com
July 2, 2025 at 2:01 PM
jamesfasham.bsky.social
Something for those working in cancer genetics 🦀 #ESHG2025

Fulya Taylan
- Germline whole WGS
- childhood leukemia in Sweden
-inc T21, TP53, CEPBA
- incidental inc. MSH6, PALB2
May 24, 2025 at 3:45 PM
msjournalist.bsky.social
x.com/msjournalist...
Susan Berger on X: "Deeply honored for this recognition and so pleased to spread awareness of this underreported genetic mutation #palb2 #breastcancerawareness https://t.co/ClH1lZt8kn" / X
Deeply honored for this recognition and so pleased to spread awareness of this underreported genetic mutation #palb2 #breastcancerawareness https://t.co/ClH1lZt8kn
x.com
February 12, 2026 at 4:02 AM
liangrhea.bsky.social
If early genetic testing is offered to ALL #BreastCancer patients, the rate of high penetrance genes such as BRCA1/2 is not high- 3.6% (~1 in every 28 women) but significantly influences their choice of surgical procedure.

So, what price women's health? 👀

www.sciencedirect.com/science/arti...
The impact of expanded access to germline high penetrance genetic testing for women with a new diagnosis of invasive breast cancer or high-grade DCIS
Approximately 3% of patients with breast cancer have an inherited pathogenic variant in high-penetrance genes such as BRCA1, BRCA2 or PALB2. Knowledge…
www.sciencedirect.com
August 8, 2026 at 7:03 AM
binaytara.bsky.social
This #PancreaticCancer Awareness Month, Dr. Jonathan W. Lee of New York-Presbyterian Weill Cornell shares groundbreaking research on PALB2 mutations, one of the few genomically actionable targets in pancreatic cancer: buff.ly/1P9zGsM #HemOnc #Medsky
November 25, 2025 at 11:33 PM
ajhgnews.bsky.social
📣 New from Johnatty et al!
📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
The recessive Fanconi anemia phenotype is used to classify BRCA1, BRCA2, and PALB2 variants with respect to dominant hereditary breast-ovarian cancer syndrome. Phenotype-genotype analysis of 178 indiv...
www.cell.com
October 30, 2025 at 3:42 PM
genetionary.bsky.social
What is cascade testing and how is it used to prevent hereditary cancer?

The infographic can be downloaded at: genetionary.org/resources/

#HereditaryCancerWeek #CascadeTesting #Previvor #CancerPrevention #Cancer #health #familyhealth #GeneticTesting #LynchSyndrome #BRCA2 #BRCA1 #CHEK2 #ATM #PALB2
October 2, 2025 at 3:25 PM
picardonhealth.bsky.social
When I learned I carried a gene that increases the risk of #BreastCancer -- my gene is called PALB2, and it's not as famous as BRCA -- I took control of my own fate, by Harriet Alida Lye www.theglobeandmail.com/opinion/arti... via @theglobeandmail.com @markmedley.bsky.social
Opinion: When I learned I carried a gene that increases the risk of breast cancer, I took control of my own fate
I was constantly assured by my medical team that this was my decision to make: nobody would push me in any one direction. There was no ‘right choice’
www.theglobeandmail.com
February 14, 2025 at 10:30 PM
danafarber.bsky.social
It’s Day 4 at @sabcs.bsky.social! Presentations by our @dfcibreastonc.bsky.social faculty include research for brain metastases and for BRCA- or PALB2-mutated breast cancer. Check out our full #SABCS24 schedule here: bit.ly/3CVsIOH
December 13, 2024 at 1:40 PM