Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.T1100T
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PALB2

NM_024675.4:p.T1100T

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

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.

Tsyganov MM et al.

Genes, 2023

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

Chian JS et al.

International Journal of Molecular Sciences, 2023

37511102 (PubMed )
Supplement: ijms-24-11343-s001.zip › Table_S1_Human_PALB2_variants_identified_from_Clinvar_database.xlsx › BVs

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Cancers, 2020

32756499 (PubMed )
Supplement: cancers-12-02151-s001.pdf

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.

Rashid MU et al.

Cancer Research and Treatment, 2019

A PALB2 truncating mutation: Implication in cancer prevention and therapy of Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Breast (edinburgh, Scotland), 2019

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

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Kluska A et al.

Bmc Medical Genomics, 2017

Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.

Silvestri V et al.

Cancer, 2017

Analysis of PALB2 in a cohort of Italian breast cancer patients: identification of a novel PALB2 truncating mutation.

Vietri MT et al.

Familial Cancer, 2015

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

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.

Catucci I et al.

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

Assessment of PALB2 as a candidate melanoma susceptibility gene.

Aoude LG et al.

Plos One, 2014

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

Hartley T et al.

Hereditary Cancer in Clinical Practice, 2014

25225577 (PubMed )
Supplement: 1897-4287-12-19-S1.docx

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

Nguyen-Dumont T et al.

Bmc Medical Genomics, 2013

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

Teo ZL et al.

Breast Cancer Research : Bcr, 2013

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

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I et al.

Familial Cancer, 2012

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

BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.

Wong MW et al.

Breast Cancer Research and Treatment, 2011

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

PALB2 mutations in male breast cancer: a population-based study in Central Italy.

Silvestri V et al.

Breast Cancer Research and Treatment, 2010

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

Papi L et al.

Familial Cancer, 2010

Are PALB2 mutations associated with increased risk of male breast cancer?

Sauty de Chalon A et al.

Breast Cancer Research and Treatment, 2010

A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

Dansonka-Mieszkowska A et al.

Bmc Medical Genetics, 2010

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Pakkanen S et al.

Journal of Negative Results in Biomedicine, 2009

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

Tischkowitz MD et al.

Gastroenterology, 2009

PALB2 sequence variants in young South African breast cancer patients.

Sluiter M et al.

Familial Cancer, 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."