Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.V398V
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PALB2

NM_024675.4:p.V398V

Associated Papers

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.

Infante M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Investigation on the Role of PALB2 Gene in CDH1-Negative Patients With Hereditary Diffuse Gastric Cancer.

Carreño M et al.

Clinical and Translational Gastroenterology, 2020

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Jarhelle E et al.

Scientific Reports, 2019

31882575 (PubMed )
Supplement: 41598_2019_55515_MOESM1_ESM.pdf

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.

Myszka A et al.

Familial Cancer, 2018

Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.

Cecener G et al.

Molecular Biology Reports, 2016

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

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

Assessment of PALB2 as a candidate melanoma susceptibility gene.

Aoude LG et al.

Plos One, 2014

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Blanco A et al.

Plos One, 2013

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.

Blanco A et al.

Breast Cancer Research and Treatment, 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

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Tischkowitz MD et al.

Gastroenterology, 2009

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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."