4/5
Real impact: an MLH1 variant (c.117-6T>A) triggered a cryptic splice site & #exon skipping — reclassified VUS → likely pathogenic, matching the patient's Lynch syndrome tumor. A PALB2 variant at a canonical splice site spliced normally despite looking risky on paper.
#HereditaryCancer #VUS
Real impact: an MLH1 variant (c.117-6T>A) triggered a cryptic splice site & #exon skipping — reclassified VUS → likely pathogenic, matching the patient's Lynch syndrome tumor. A PALB2 variant at a canonical splice site spliced normally despite looking risky on paper.
#HereditaryCancer #VUS
August 26, 2026 at 3:33 PM
4/5
Real impact: an MLH1 variant (c.117-6T>A) triggered a cryptic splice site & #exon skipping — reclassified VUS → likely pathogenic, matching the patient's Lynch syndrome tumor. A PALB2 variant at a canonical splice site spliced normally despite looking risky on paper.
#HereditaryCancer #VUS
Real impact: an MLH1 variant (c.117-6T>A) triggered a cryptic splice site & #exon skipping — reclassified VUS → likely pathogenic, matching the patient's Lynch syndrome tumor. A PALB2 variant at a canonical splice site spliced normally despite looking risky on paper.
#HereditaryCancer #VUS
New research provides deeper insights into how heterozygous pathogenic variants of the PALB2 gene influence cancer risk and mortality.
🔗 Source: https://doi.org/10.64898/2026.04.03.26349984
🔗 Source: https://doi.org/10.64898/2026.04.03.26349984
August 18, 2026 at 3:59 PM
New research provides deeper insights into how heterozygous pathogenic variants of the PALB2 gene influence cancer risk and mortality.
🔗 Source: https://doi.org/10.64898/2026.04.03.26349984
🔗 Source: https://doi.org/10.64898/2026.04.03.26349984
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
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.
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...
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
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...
So, what price women's health? 👀
www.sciencedirect.com/science/arti...
El Hospital Clínico Universitario de València logra un embarazo libre de la mutación genética PALB2, que incrementa el riesgo de padecer algunos tipos de cáncer, gracias a la aplicación del diagnóstico genético preimplantacional
Logran un embarazo libre de mutación PALB2 mediante el diagnóstico genético preimplantacional
El Hospital Clínico Universitario de València ha conseguido un embarazo evolutivo de un embrión libre de la mutación genética PALB2
efeminista.com
August 4, 2026 at 3:04 PM
El Hospital Clínico Universitario de València logra un embarazo libre de la mutación genética PALB2, que incrementa el riesgo de padecer algunos tipos de cáncer, gracias a la aplicación del diagnóstico genético preimplantacional
Integrated Bioinformatics Analysis of PALB2 Reveals Expression Patterns, Molecular Interactions, and Prognostic Significance in Breast Cancer https://www.biorxiv.org/content/10.64898/2026.07.19.739427v1
July 23, 2026 at 9:53 PM
Integrated Bioinformatics Analysis of PALB2 Reveals Expression Patterns, Molecular Interactions, and Prognostic Significance in Breast Cancer https://www.biorxiv.org/content/10.64898/2026.07.19.739427v1
Integrated Bioinformatics Analysis of PALB2 Reveals Expression Patterns, Molecular Interactions, and Prognostic Significance in Breast Cancer https://www.biorxiv.org/content/10.64898/2026.07.19.739427v1
July 23, 2026 at 9:53 PM
Integrated Bioinformatics Analysis of PALB2 Reveals Expression Patterns, Molecular Interactions, and Prognostic Significance in Breast Cancer https://www.biorxiv.org/content/10.64898/2026.07.19.739427v1
My husband of almost 50 years passed away a few days ago from prostate cancer. He tried infusion, oral chemo, hormonal chemo, & finally radiation. Found out he carried the PALB2 gene that made everything even harder for him to survive. Love you PSB. Our hearts are broken. Fuck cancer.
#CancerSucks
#CancerSucks
July 19, 2026 at 11:11 PM
My husband of almost 50 years passed away a few days ago from prostate cancer. He tried infusion, oral chemo, hormonal chemo, & finally radiation. Found out he carried the PALB2 gene that made everything even harder for him to survive. Love you PSB. Our hearts are broken. Fuck cancer.
#CancerSucks
#CancerSucks
El Hospital Clínico de València logra un embarazo libre de la mutación PALB2 mediante el diagnóstico genético preimplantacional www.puntocomunica.com/el-hospital-...
July 18, 2026 at 3:19 PM
El Hospital Clínico de València logra un embarazo libre de la mutación PALB2 mediante el diagnóstico genético preimplantacional www.puntocomunica.com/el-hospital-...
Un diagnóstico genético del Hospital Clínico de València evita mutaciones en un embarazo
https://actualidadvalencia.com/un-diagnostico-genetico-del-hospital-clinico-de-valencia-evita-mutaciones-en-un-embarazo/
https://actualidadvalencia.com/un-diagnostico-genetico-del-hospital-clinico-de-valencia-evita-mutaciones-en-un-embarazo/
Un diagnóstico genético del Hospital Clínico de València evita mutaciones en un embarazo - Actualidad Valencia
La mutación genética PALB2 incrementa de forma significativa el riesgo de padecer determinados tipos de cáncer, especialmente el de mama
actualidadvalencia.com
July 18, 2026 at 12:15 PM
Un diagnóstico genético del Hospital Clínico de València evita mutaciones en un embarazo
https://actualidadvalencia.com/un-diagnostico-genetico-del-hospital-clinico-de-valencia-evita-mutaciones-en-un-embarazo/
https://actualidadvalencia.com/un-diagnostico-genetico-del-hospital-clinico-de-valencia-evita-mutaciones-en-un-embarazo/
L'Hospital Clínic de València aconsegueix un embaràs lliure de la mutació PALB2 mitjançant el diagnòstic genètic preimplantacional
noticiesdigitals.com/lhospital-cl...
noticiesdigitals.com/lhospital-cl...
L’Hospital Clínic de València aconsegueix un embaràs lliure de la mutació PALB2 mitjançant el diagnòstic genètic preimplantacional | Notícies Dígitals
noticiesdigitals.com
July 18, 2026 at 8:44 AM
L'Hospital Clínic de València aconsegueix un embaràs lliure de la mutació PALB2 mitjançant el diagnòstic genètic preimplantacional
noticiesdigitals.com/lhospital-cl...
noticiesdigitals.com/lhospital-cl...
La alteración hereditaria eleva el riesgo de cáncer de mama y puede transmitirse al 50 % de la descendencia
El Clínico de València logra un embarazo libre de la mutación PALB2 mediante diagnóstico genético preimplantacional
El Hospital Clínico Universitario de València ha conseguido un embarazo evolutivo a partir de un embrión libre de la mutación genética PALB2, tras aplicar diagnóstico genético preimplantacional en un....
www.lanocion.es
July 18, 2026 at 8:30 AM
La alteración hereditaria eleva el riesgo de cáncer de mama y puede transmitirse al 50 % de la descendencia
Carriers of protein-truncating variants in BRCA1, BRCA2, PALB2, and RAD51D showed higher CD163+ cell abundance, a marker of immunosuppressive, M2-like tumor-associated macrophages. These findings support a role for rare pathogenic germline variants in breast tumors immune composition.
July 7, 2026 at 4:45 PM
Carriers of protein-truncating variants in BRCA1, BRCA2, PALB2, and RAD51D showed higher CD163+ cell abundance, a marker of immunosuppressive, M2-like tumor-associated macrophages. These findings support a role for rare pathogenic germline variants in breast tumors immune composition.
This review highlights CXorf67 as an #Epigenetic regulator interacting with PRC2 and PALB2, altering chromatin states and #DNArepair across cancers, and underscoring its role in #oncogenesis and therapeutic potential. #glioma #FusionGenes
#OpenAccess: doi.org/10.1016/j.ge...
#OpenAccess: doi.org/10.1016/j.ge...
June 23, 2026 at 2:00 PM
This review highlights CXorf67 as an #Epigenetic regulator interacting with PRC2 and PALB2, altering chromatin states and #DNArepair across cancers, and underscoring its role in #oncogenesis and therapeutic potential. #glioma #FusionGenes
#OpenAccess: doi.org/10.1016/j.ge...
#OpenAccess: doi.org/10.1016/j.ge...
Cancer progression and formation is similar to many developmental processes. It is unsurprising that many genes are shared between these two processes, and one of which is BRCA1. BRCA1 regulates cell cycle and genome integrity during development. Check out the latest review: doi.org/10.1016/j.cd...
June 12, 2026 at 2:15 PM
Cancer progression and formation is similar to many developmental processes. It is unsurprising that many genes are shared between these two processes, and one of which is BRCA1. BRCA1 regulates cell cycle and genome integrity during development. Check out the latest review: doi.org/10.1016/j.cd...
Differential causative effects of germline pathogenic variants in MUTYH and PALB2 in a patient with colorectal polyposis and breast cancer https://www.medrxiv.org/content/10.64898/2026.05.15.26352890v1
May 25, 2026 at 10:40 PM
Differential causative effects of germline pathogenic variants in MUTYH and PALB2 in a patient with colorectal polyposis and breast cancer https://www.medrxiv.org/content/10.64898/2026.05.15.26352890v1
Parts 1-2/2 — EFTA01140252.jpg
#epsteinweb #efta01140252
https://epsteinweb.org
Available in the iOS app store now!
https://apps.apple.com/us/app/epstein-web/id6758880661
#epsteinweb #efta01140252
https://epsteinweb.org
Available in the iOS app store now!
https://apps.apple.com/us/app/epstein-web/id6758880661
May 10, 2026 at 3:38 PM
Parts 1-2/2 — EFTA01140252.jpg
#epsteinweb #efta01140252
https://epsteinweb.org
Available in the iOS app store now!
https://apps.apple.com/us/app/epstein-web/id6758880661
#epsteinweb #efta01140252
https://epsteinweb.org
Available in the iOS app store now!
https://apps.apple.com/us/app/epstein-web/id6758880661
Maintenance rucaparib provided >5-year progression-free survival for 16% of patients with #PancreaticCancer and BRCA/PALB2 variants; resistance mechanisms were detected in half of those with disease progression. ja.ma/4d0xt83
May 4, 2026 at 2:00 PM
Maintenance rucaparib provided >5-year progression-free survival for 16% of patients with #PancreaticCancer and BRCA/PALB2 variants; resistance mechanisms were detected in half of those with disease progression. ja.ma/4d0xt83
In breast cancer, for example, rare mutations such as BRCA1/2, PALB2, BARD1, CDH1, etc. explain just a small fraction of familial breast cancers, ~6%.
More than 30% of these familial cases are explained by the combined effects of many common variants across the genome. They aren't part of screening.
More than 30% of these familial cases are explained by the combined effects of many common variants across the genome. They aren't part of screening.
April 20, 2026 at 9:08 PM
In breast cancer, for example, rare mutations such as BRCA1/2, PALB2, BARD1, CDH1, etc. explain just a small fraction of familial breast cancers, ~6%.
More than 30% of these familial cases are explained by the combined effects of many common variants across the genome. They aren't part of screening.
More than 30% of these familial cases are explained by the combined effects of many common variants across the genome. They aren't part of screening.
More on germline mutations in patients with NETs
453 patients with NETs, 11.5% with a germline pathogenic or likely pathogenic variant, most commonly in MEN1 (3.5%). Other alterations noted were PALB2, SDHB, BRIP1 and MUTYH.
A nice addition to the lit.
onlinelibrary.wiley.com/doi/full/10....
453 patients with NETs, 11.5% with a germline pathogenic or likely pathogenic variant, most commonly in MEN1 (3.5%). Other alterations noted were PALB2, SDHB, BRIP1 and MUTYH.
A nice addition to the lit.
onlinelibrary.wiley.com/doi/full/10....
Germline Mutation Landscape of Neuroendocrine Tumors in the Chinese Population
Hereditary syndromes account for roughly 5 to 10 percent of neuroendocrine tumors (NETs). However, most studies of germline mutations in NET have involved Caucasian populations. This retrospective st...
onlinelibrary.wiley.com
April 10, 2026 at 5:28 PM
More on germline mutations in patients with NETs
453 patients with NETs, 11.5% with a germline pathogenic or likely pathogenic variant, most commonly in MEN1 (3.5%). Other alterations noted were PALB2, SDHB, BRIP1 and MUTYH.
A nice addition to the lit.
onlinelibrary.wiley.com/doi/full/10....
453 patients with NETs, 11.5% with a germline pathogenic or likely pathogenic variant, most commonly in MEN1 (3.5%). Other alterations noted were PALB2, SDHB, BRIP1 and MUTYH.
A nice addition to the lit.
onlinelibrary.wiley.com/doi/full/10....
Genomic ascertainment of PALB2-related cancer predisposition https://www.medrxiv.org/content/10.64898/2026.04.03.26349984v1
April 4, 2026 at 2:40 PM
Genomic ascertainment of PALB2-related cancer predisposition https://www.medrxiv.org/content/10.64898/2026.04.03.26349984v1
That's incredible value. Comprehensive cancer risk panels now cover dozens of genes beyond BRCA — PALB2, CHEK2, ATM and more. The research component matters too: population-scale data helps improve risk models for everyone. Hope the results bring useful clarity.
March 28, 2026 at 6:40 PM
That's incredible value. Comprehensive cancer risk panels now cover dozens of genes beyond BRCA — PALB2, CHEK2, ATM and more. The research component matters too: population-scale data helps improve risk models for everyone. Hope the results bring useful clarity.
Feed: "Inside Precision Medicine"
By: Jonathan D. Grinstein, PhD on Thursday, March 26, 2026
By: Jonathan D. Grinstein, PhD on Thursday, March 26, 2026
Metastatic Pancreatic Cancer HRD Biomarkers Guide Precision Immunotherapy
PARP inhibitors and immune checkpoint inhibitors prolong benefit for HRD pancreatic cancer patients with BRCA1, BRCA2, and PALB2 mutations.
www.insideprecisionmedicine.com
March 26, 2026 at 8:10 PM
Feed: "Inside Precision Medicine"
By: Jonathan D. Grinstein, PhD on Thursday, March 26, 2026
By: Jonathan D. Grinstein, PhD on Thursday, March 26, 2026
Q35. A 53 y.o. female was found to have low grade epithelial cancer in ovary and gastric caner with signet ring cells. Which gene is involved?
A. BARD1
B. PALB2
C. CDH1
D. APC
A. BARD1
B. PALB2
C. CDH1
D. APC
March 24, 2026 at 2:04 PM
Q35. A 53 y.o. female was found to have low grade epithelial cancer in ovary and gastric caner with signet ring cells. Which gene is involved?
A. BARD1
B. PALB2
C. CDH1
D. APC
A. BARD1
B. PALB2
C. CDH1
D. APC