Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L1143H
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PALB2

NM_024675.4:p.L1143H

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › PALB2

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Rawashdeh RR et al.

Jco Global Oncology, 2024

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Co-evolution of AR gene copy number and structural complexity in endocrine therapy resistant prostate cancer.

Zivanovic A et al.

Nar Cancer, 2023

37636316 (PubMed )
Supplement: zcad045_supplemental_files.zip › SupplementaryDataS12.xlsx › Sheet_1

Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.

Subaşıoğlu A et al.

European Journal of Breast Health, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Multi-gene panel testing and association analysis in Cypriot breast cancer cases and controls.

Zanti M et al.

Frontiers in Genetics, 2023

37790698 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2022

When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives.

Apostolou P et al.

Cancer Genetics, 2021

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.

Zanti M et al.

Cancers, 2020

33120919 (PubMed )
Supplement: cancers-12-03140-s001.pdf

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S1.2_Overall_SNV_small_indels

Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.

Kwong A et al.

American Journal of Cancer Research, 2020

Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Boonen RACM et al.

Frontiers in Molecular Biosciences, 2020

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Boonen RACM et al.

Nature Communications, 2019

The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.

Ebrahimi E et al.

Cancer Prevention Research (philadelphia, Pa.), 2019

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

PALB2: research reaching to clinical outcomes for women with breast cancer.

Southey MC et al.

Hereditary Cancer in Clinical Practice, 2016

Mutation analysis of PALB2 gene in French breast cancer families.

Damiola F et al.

Breast Cancer Research and Treatment, 2015

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

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6

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

Catucci I et al.

Familial Cancer, 2012

PALB2: a novel inactivating mutation in a Italian breast cancer family.

Balia C et al.

Familial Cancer, 2010

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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."