Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q60fs
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PALB2

NM_024675.4:p.Q60fs

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

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

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

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M et al.

Breast Cancer Research and Treatment, 2021

34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3

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

Łukomska A et al.

Cancers, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

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

Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.

Zhou J et al.

Cancer, 2020

Germline genetic variants in men with prostate cancer and one or more additional cancers.

Pilié PG et al.

Cancer, 2017

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

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

Cybulski C et al.

Clinical Genetics, 2015

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Nguyen-Dumont T et al.

Breast Cancer Research and Treatment, 2015

Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Churi CR et al.

Plos One, 2014

25536104 (PubMed )
Supplement: pone.0115383.s001.xlsx › Sheet_1
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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."