News - PALB2 mutation

A Case Report: A Rare Casr Mutation Associated with HER2-Positive Breast Cancer. (PubMed, Exp Oncol)

The patient underwent neoadjuvant chemothera- py, right-sided mastectomy, and trastuzumab therapy, achieving complete pathological regression (pCR) with no recur- rence after ten months of follow-up. Although the CASR p.Glu755Asp variant's pathogenic role is unproven, emerging evidence links CASR overexpression with hER2-positive breast cancers, promoting tumor progression via calcium- dependent signaling pathways (PI3K/AKt, MAPK). This case highlights the potential role of CASR as a low-penetrance susceptibility gene in breast cancer and supports further functional and genomic studies to clarify its clinical impact.

3 days ago

Journal • BRCA Biomarker

HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • CASR (Calcium Sensing Receptor)

HER-2 positive • BRCA2 mutation • BRCA1 mutation • HER-2 overexpression • HER-2 mutation • PALB2 mutation • ER negative • CHEK2 mutation • HER-2 positive + HER-2 overexpression

Herceptin (trastuzumab)

Targeted Early Detection Program in Men at High Genetic Risk for Prostate Cancer (clinicaltrials.gov)

P=N/A, N=200, Recruiting, University of Michigan Rogel Cancer Center

6 days ago

New trial

BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease) • HOXB13 (Homeobox B13)

TP53 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BRCA mutation

NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)

P2, N=60, Active, not recruiting, National Cancer Institute (NCI) | Suspended --> Active, not recruiting

7 days ago

Enrollment closed • Tumor mutational burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)

PALB2 mutation • BRIP1 mutation

FoundationOne® CDx

Lynparza (olaparib)

20d

A Study of Olaparib and Pembrolizumab in People With Triple Negative Breast Cancer (TNBC) or Hormone Receptor-positive HER2-negative Breast Cancer (clinicaltrials.gov)

P2, N=6, Active, not recruiting, Memorial Sloan Kettering Cancer Center | N=23 --> 6

20 days ago

Enrollment change

HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)

BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • PALB2 mutation • RAD51C mutation • RAD51D mutation • HR positive + HER-2 negative • HER-2 negative + HR positive + BRCA mutation

Keytruda (pembrolizumab) • Lynparza (olaparib)

21d

A Study of Magnetic Resonance Imaging of the Pancreas for Cancer Screening (clinicaltrials.gov)

P=N/A, N=79, Recruiting, Memorial Sloan Kettering Cancer Center

21 days ago

New trial

TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule) • PRSS1 (Serine Protease 1) • CTRC (Chymotrypsin C)

TP53 mutation • BRCA1 mutation • ATM mutation • STK11 mutation • PALB2 mutation

29d

A Phase II Multicentric Study of Olaparib in PALB2-related Advanced Pancreatic Cancer (PALBOLA) (2024-516466-11-00)

P1/2, N=16, Recruiting, Azienda Ospedaliero Universitaria Di Modena | Not yet recruiting --> Recruiting

29 days ago

Enrollment open

PALB2 mutation

Lynparza (olaparib)

Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer (clinicaltrials.gov)

P2, N=83, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Mar 2026 --> Mar 2027

1 month ago

Trial completion date

BRCA1 (Breast cancer 1, early onset) • BRCA (Breast cancer early onset)

BRCA2 mutation • BRCA1 mutation • PALB2 mutation • BRCA mutation

cisplatin • gemcitabine • veliparib (ABT-888)

A Study of SYNC-T Therapy SV-102 in Participants With Metastatic Castration-Resistant Prostate Cancer (clinicaltrials.gov)

P2, N=91, Recruiting, Syncromune, Inc. | N=70 --> 91 | Trial completion date: Dec 2027 --> Apr 2028 | Trial primary completion date: Dec 2027 --> Apr 2028

1 month ago

Enrollment change • Trial completion date • Trial primary completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset)

BRCA2 mutation • BRCA1 mutation • PALB2 mutation

SV-102

FIMBRIMENOP-2402 trial: evaluating fimbriectomy with delayed oophorectomy in patients with high-risk tubo-ovarian cancer. (PubMed, Int J Gynecol Cancer)

Final analysis is planned when all patients reach age 70 (around 2071). NCT06726330.

1 month ago

Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)

BRCA1 mutation • PALB2 mutation • RAD51C mutation • RAD51D mutation

Olaparib in Treating Patients With Metastatic Biliary Tract Cancer With Aberrant DNA Repair Gene Mutations (clinicaltrials.gov)

P2, N=32, Active, not recruiting, Academic and Community Cancer Research United | Recruiting --> Active, not recruiting | Trial completion date: Mar 2025 --> Aug 2026

1 month ago

Enrollment closed • Trial completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • ATR (Ataxia telangiectasia and Rad3-related protein) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)

BRCA2 mutation • BRCA1 mutation • ATM mutation • PTEN mutation • ARID1A mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • BRCA mutation

Lynparza (olaparib)

Cabozantinib and Pamiparib for the Treatment of Advanced of Refractory Solid Tumors (clinicaltrials.gov)

P1, N=44, Completed, M.D. Anderson Cancer Center | Active, not recruiting --> Completed

1 month ago

Trial completion

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • CHEK1 (Checkpoint kinase 1) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)

BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • CHEK1 mutation

Cabometyx (cabozantinib tablet) • Partruvix (pamiparib)

Olaparib in Men With High-Risk Biochemically-Recurrent Prostate Cancer Following Radical Prostatectomy, With Integrated Biomarker Analysis (clinicaltrials.gov)

P2, N=51, Active, not recruiting, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins | Trial completion date: May 2026 --> May 2027

1 month ago

Trial completion date

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)

BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation

Lynparza (olaparib)