Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.F994_A995insFs
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PALB2

NM_024675.4:p.F994_A995insFs

Associated Papers

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

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants

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

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

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

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J et al.

Journal of Medical Genetics, 2016

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

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.

Nguyen-Dumont T et al.

Analytical Biochemistry, 2015

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

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Nguyen-Dumont T et al.

Bmc Medical Genomics, 2013

Tumour morphology predicts PALB2 germline mutation status.

Teo ZL et al.

British Journal of Cancer, 2013

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Teo ZL et al.

Breast Cancer Research : Bcr, 2013

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

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 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

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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."