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BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

News alerts, weekly reports and conference planners

17d

LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)

P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026

17 days ago

Trial initiation date

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)

TP53 mutation • PTEN deletion

18d

Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes (clinicaltrials.gov)

P=N/A, N=77, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Feb 2026 --> Feb 2027 | Trial primary completion date: Feb 2026 --> Feb 2027

18 days ago

Trial completion date • Trial primary completion date

STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

19d

Machine learning framework for mRNA alternative splicing analysis identifies a signature of progression in colorectal adenocarcinoma. (PubMed, Sci Rep)

Comparison to other markers and methods further confirmed the independent predictive value of the AS-PFS risk signature. We propose that this signature could be utilized in clinical settings to enhance patient stratification at diagnosis and further inform personalized treatment strategies.

19 days ago

Journal

BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience. (PubMed, Cancers (Basel))

Early access to genomic analyses, routine germline assessment, and broad gene panels would help in identifying possible targeted drugs with sufficient evidence of activity beneficial to each patient. In the clinical management of advanced sarcoma patients, when analyzing cost-effectiveness and sustainability, the role of the Molecular Tumor Board in the governance of the complexity introduced by mutational oncology should be considered.

1 month ago

Journal

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PMS2 (PMS1 protein homolog 2) • MUC16 (Mucin 16, Cell Surface Associated) • NOTCH4 (Notch 4) • RHOA (Ras homolog family member A) • BARD1 (BRCA1 Associated RING Domain 1) • CCND3 (Cyclin D3) • DDR2 (Discoidin domain receptor 2) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

Archer® VariantPlex® Solid Tumor Kit

3ms

Identification of a Mosaic BMPR1A Pathogenic Variant in Juvenile Polyposis Syndrome: A Case Study and Its Impact on Cancer Screening. (PubMed, Case Rep Genet)

This diagnosis affects cancer screening recommendations for our patient and his relatives. Our case highlights the need for recognition and workup of potentially mosaic cases and for universal germline genetic testing for patients with colorectal cancer.

3 months ago

Journal

SMAD4 (SMAD family member 4) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

3ms

An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results (clinicaltrials.gov)

P=N/A, N=1000, Recruiting, Memorial Sloan Kettering Cancer Center | N=2060 --> 1000

3 months ago

Enrollment change

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

4ms

Transcriptomic profiling reveals the role of Hedgehog signaling as a biomarker and in the pathogenesis of Ménétrier's disease. (PubMed, J Pathol)

Furthermore, Hh signaling was shown to play an important role in the pathogenesis of MD and may serve as a potential therapeutic target.

4 months ago

Journal

EGFR (Epidermal growth factor receptor) • ER (Estrogen receptor) • SMAD4 (SMAD family member 4) • GLI1 (GLI Family Zinc Finger 1) • TGFA (Transforming Growth Factor Alpha) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

EGFR expression

4ms

The use of whole genome sequencing to study young patients with 100+ adenomas of the colon. (PubMed, Front Oncol)

Using standard NGS panels or whole exome sequencing (WES) would not have detected these variants. Our results demonstrate that WGS is a useful genetic testing method for young patients with over 100 adenomatous colonic polyps, when routine DNA diagnostic methods fail to establish the genetic cause of the disease.

4 months ago

Journal

SMAD4 (SMAD family member 4) • APC (APC Regulator Of WNT Signaling Pathway) • MUTYH (MutY homolog) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)

4ms

BMP2 Pan-Cancer Analysis in Multiple Tumor Types of TCGA Datasets. (PubMed, Cancer Invest)

BMP2 expressions and alterations have tissue-specific prognostic implications. BMP2 may serve as a biomarker and therapeutic target in specific tumors via TGF-β signaling modulation.

4 months ago

Journal • Pan tumor

TGFB1 (Transforming Growth Factor Beta 1) • CALR (Calreticulin) • HSPA5 (Heat Shock Protein Family A (Hsp70) Member 5) • ACVR2A (Activin A Receptor Type 2A) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • BMP2 (Bone Morphogenetic Protein 2) • BMP4 (Bone Morphogenetic Protein 4)

5ms

Identification of novel gene fusions in high-grade serous ovarian carcinoma: implications for tumorigenesis and targeted therapy. (PubMed, Cancer Genet)

This study identified candidate driver fusion genes and suggested new therapeutic targets for HGSOCs.

5 months ago

Journal

ER (Estrogen receptor) • TP53 (Tumor protein P53) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • AXL (AXL Receptor Tyrosine Kinase) • HDAC1 (Histone Deacetylase 1) • CAMK2D (Calcium/Calmodulin Dependent Protein Kinase II Delta) • LATS1 (Large Tumor Suppressor Kinase 1) • PSMD1 (Proteasome 26S Subunit Non-ATPase 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • CAMKK1 (Calcium/Calmodulin Dependent Protein Kinase Kinase 1) • HNRNPUL1 (Heterogeneous Nuclear Ribonucleoprotein U Like 1) • SH3PXD2A (SH3 And PX Domains 2A) • YY1 (YY1 Transcription Factor) • ZNF143 (Zinc Finger Protein 143)

TP53 mutation

5ms

Molecular Heterogeneity in Early-Onset Colorectal Cancer: Pathway-Specific Insights in High-Risk Populations. (PubMed, medRxiv)

However, in NHW EOCRC patients, the presence of WNT pathway alterations was associated with improved survival. These findings emphasize the necessity for further research to clarify the molecular mechanisms driving EOCRC disparities in high-risk populations and to inform precision medicine strategies for underrepresented groups.

5 months ago

Journal

BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • RNF43 (Ring Finger Protein 43) • TGFB1 (Transforming Growth Factor Beta 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • MAPK3 (Mitogen-Activated Protein Kinase 3)

KRAS mutation • BRAF mutation • CBL mutation

5ms

Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps. (PubMed, BMC Cancer)

Our findings support the notion that the clinical phenotype of BMPR1A variants may extend beyond classical JPS. Genotype-phenotype correlations are complex, since molecular comparison of constitutional and tumor features of our families to those published from JPS families in the literature show a significant overlap. The variety of clinical phenotypes warrants recognition in the clinical management of BMPR1A carriers and their family members.

5 months ago

Journal

BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)