Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.R170fs
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PALB2

NM_024675.4:p.R170fs

Associated Papers

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_1

Analytical validation of a homologous recombination deficiency signature (HRDsig) in pan-tumor tissue samples.

Li W et al.

Plos One, 2025

41248118 (PubMed )
Supplement: pone.0336940.s006.xlsx › Sheet1

Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.

Rezoug Z et al.

Jama Network Open, 2024

39226054 (PubMed )
Supplement: jamanetwopen-e2431427-s001.pdf

Phase II study of talazoparib in advanced cancers with BRCA1/2, DNA repair, and PTEN alterations.

Piha-Paul SA et al.

Npj Precision Oncology, 2024

Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.

Tsyganov MM et al.

Genes, 2023

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.

Astiazaran-Symonds E et al.

Cancers, 2022

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Kostecka A et al.

Npj Breast Cancer, 2022

35768433 (PubMed )
Supplement: 41523_2022_443_MOESM4_ESM.xlsx › Truncating_variants

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.

Ogrodniczak A et al.

Hereditary Cancer in Clinical Practice, 2022

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM2_ESM.xlsx › Sheet1

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Emelyanova M et al.

Therapeutic Advances in Medical Oncology, 2022

35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1

Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis.

Liegmann AS et al.

Cancers, 2021

34282768 (PubMed )
Supplement: cancers-13-03366-s001.zip › cancers-1245840-SI › Supplementary_Files › Supplemental_Tables › S10_Supplemental_Table.xlsx › all

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s002.xlsx › Table_S1B

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.

Łukomska A et al.

Cancers, 2021

Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.

Preobrazhenskaya EV et al.

International Journal of Cancer, 2021

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Stolarova L et al.

Biomedicines, 2020

33050356 (PubMed )
Supplement: biomedicines-08-00404-s001.zip › Supplementary_Tables.xlsx › TabS3

Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets.

Paul MR et al.

The Journal of Clinical Investigation, 2020

A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Rotunno M et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Suzuki A et al.

Science Advances, 2020

32426482 (PubMed )
Supplement: aav9778_SM.pdf

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Wu S et al.

Frontiers in Oncology, 2020

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM11_ESM.xlsx › Sheet1

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.

Petridis C et al.

Breast Cancer Research : Bcr, 2019

31060593 (PubMed )
Supplement: 13058_2019_1143_MOESM2_ESM.xlsx › Sheet1

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A et al.

Npj Breast Cancer, 2019

Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.

Lorentzian A et al.

Jnci Cancer Spectrum, 2018

30976750 (PubMed )
Supplement: pky079_supp.pdf

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.

Annala M et al.

European Urology, 2017

Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.

Pauty J et al.

Nucleic Acids Research, 2017

Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic.

Borecka M et al.

Cancer Genetics, 2016

PALB2: research reaching to clinical outcomes for women with breast cancer.

Southey MC et al.

Hereditary Cancer in Clinical Practice, 2016

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10

PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

Li YT et al.

European Journal of Medical Research, 2015

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

Cybulski C et al.

Clinical Genetics, 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

Couch FJ et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

Catucci I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I et al.

Familial Cancer, 2012

PALB2 mutations in German and Russian patients with bilateral breast cancer.

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."