Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.N1039fs
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PALB2

NM_024675.4:p.N1039fs

Associated Papers

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

Pantaleo A et al.

Cancers, 2023

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

35805029 (PubMed )
Supplement: cancers-14-03257-s001.zip › cancers-1784616-supplementary.pdf

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J et al.

American Journal of Human Genetics, 2018

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 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

PALB2 mutations in European familial pancreatic cancer families.

Slater EP et al.

Clinical Genetics, 2010

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

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

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

Reid S 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

Inherited pancreatic cancer syndromes.

Solomon S et al.

Cancer Journal (sudbury, Mass.), 0

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