Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.G796*
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PALB2

NM_024675.4:p.G796*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › PALB2

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.

Li N et al.

Journal of Medical Genetics, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.

Espinel W et al.

Cancers, 2022

35626031 (PubMed )
Supplement: cancers-14-02426-s001.zip › cancers-1700686-supplementary.pdf

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.

Woodward ER et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.

Janssen B et al.

Journal of Human Genetics, 2020

Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer.

Wu J et al.

International Journal of Genomics, 2020

32724790 (PubMed )
Supplement: 2641370.f1.zip › mat.2641370.v2 › Table_SG.xlsx › Sheet2

Deconvolution of the Genomic and Epigenomic Interaction Landscape of Triple-Negative Breast Cancer.

Wu J et al.

Cancers, 2019

31683572 (PubMed )
Supplement: cancers-11-01692-s001.zip › cancers-602527-supplementary_publish › Table_S1.xlsx › Sheet2

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Molecular analysis of PALB2-associated breast cancers.

Lee JEA et al.

The Journal of Pathology, 2018

Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.

Zhang K et al.

Breast Cancer Research and Treatment, 2017

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

Li YT et al.

European Journal of Medical Research, 2015

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L et al.

European Journal of Human Genetics : Ejhg, 2014

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H et al.

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

24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC et al.

The New England Journal of Medicine, 2014

Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.

Pauty J et al.

The Biochemical Journal, 2014

Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

Fernandes PH et al.

Cancer, 2014

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

Novel germline PALB2 truncating mutations in African American breast cancer patients.

Zheng Y et al.

Cancer, 2012

Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.

Hellebrand H et al.

Human Mutation, 2011

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Casadei S et al.

Cancer Research, 2011

PALB2/FANCN: recombining cancer and Fanconi anemia.

Tischkowitz M et al.

Cancer Research, 2010

A PALB2 germline mutation associated with hereditary breast cancer in Italy.

Papi L et al.

Familial Cancer, 2010

Discovering moderate-risk breast cancer susceptibility genes.

Hollestelle A et al.

Current Opinion in Genetics & Development, 2010

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.

McInerney NM et al.

Breast Cancer Research and Treatment, 2010

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Rahman N et al.

Nature Genetics, 2007

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Foulkes WD et al.

Breast Cancer Research : Bcr, 2007

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