Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.S1169_H1170delFs
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PALB2

NM_024675.4:p.S1169_H1170delFs

Associated Papers

Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants.

O'Reilly RL et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.

van der Merwe NC et al.

Frontiers in Oncology, 2022

Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.

Kwong A et al.

Cancers, 2021

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

33350171 (PubMed )
Supplement: CAM4-10-933-s001.xlsx › SNV

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

Brandão A et al.

International Journal of Molecular Sciences, 2020

32708810 (PubMed )
Supplement: ijms-21-05036-s001.pdf

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Yadav S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.

Lang SH et al.

International Journal of Oncology, 2019

31322208 (PubMed )
Supplement: Supplementary_Data.pdf

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J et al.

Cancer Medicine, 2019

30982232 (PubMed )
Supplement: CAM4-8-2074-s004.xlsx › Sheet1

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.

Rowley SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A et al.

Npj Breast Cancer, 2019

Molecular analysis of PALB2-associated breast cancers.

Lee JEA et al.

The Journal of Pathology, 2018

Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.

Zhang K et al.

Breast Cancer Research and Treatment, 2017

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

Thompson ER et al.

Breast Cancer Research : Bcr, 2015

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC et al.

The New England Journal of Medicine, 2014

Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

Leongamornlert D et al.

British Journal of Cancer, 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

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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."