Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.L531fs
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PALB2

NM_024675.4:p.L531fs

Associated Papers

Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

Tervasmäki A et al.

Breast Cancer Research and Treatment, 2025

Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.

Zhou N et al.

Journal of Translational Medicine, 2025

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Valkna A et al.

Human Reproduction Open, 2025

Exome sequencing reveals biallelic inactivation of KMT2C in cutaneous apocrine carcinoma: A case report and review of the literature.

Hirano-Lotman Y et al.

Jaad Case Reports, 2024

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Emelyanova M et al.

Therapeutic Advances in Medical Oncology, 2022

35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1

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

Kwong A et al.

Cancers, 2021

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Tischkowitz M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Genetic Landscape of Male Breast Cancer.

Campos FAB et al.

Cancers, 2021

Ex vivo analysis of DNA repair targeting in extreme rare cutaneous apocrine sweat gland carcinoma.

Mäkelä R et al.

Oncotarget, 2021

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Song H et al.

Journal of Medical Genetics, 2021

32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3

Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.

Preobrazhenskaya EV et al.

International Journal of Cancer, 2021

Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.

Wu Y et al.

Breast Cancer Research and Treatment, 2020

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Wu S et al.

Frontiers in Oncology, 2020

Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.

Pauty J et al.

Nucleic Acids Research, 2017

Frequency of germline PALB2 mutations among women with epithelial ovarian cancer.

Kotsopoulos J et al.

Familial Cancer, 2017

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.

Cybulski C et al.

The Lancet. Oncology, 2015

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 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

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 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

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

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

The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.

Cao AY et al.

Breast Cancer Research and Treatment, 2009

[Analysis of BRCA1 gene mutations in patients with early-onset breast cancer and their affected relatives in Guangdong province].

Zhou J et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2009

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H et al.

Nature, 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

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