Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.C77delFs
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PALB2

NM_024675.4:p.C77delFs

Associated Papers

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 › PVs

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2017

Exome sequencing in a breast cancer family without BRCA mutation.

Noh JM et al.

Radiation Oncology Journal, 2015

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC et al.

The New England Journal of Medicine, 2014

Exploring the roles of PALB2 at the crossroads of DNA repair and cancer.

Pauty J et al.

The Biochemical Journal, 2014

Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

Wark L et al.

Genes, Chromosomes & Cancer, 2013

PALB2 and breast cancer: ready for clinical translation!

Southey MC et al.

The Application of Clinical Genetics, 2013

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

Catucci I et al.

Familial Cancer, 2012

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

Bogdanova N et al.

Breast Cancer Research and Treatment, 2011

Germline mutations in PALB2 in African-American breast cancer cases.

Ding YC et al.

Breast Cancer Research and Treatment, 2011

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

Balia C et al.

Familial Cancer, 2010

PALB2/FANCN: recombining cancer and Fanconi anemia.

Tischkowitz M et al.

Cancer Research, 2010

PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations.

Kim JH 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

Discovering moderate-risk breast cancer susceptibility genes.

Hollestelle A et al.

Current Opinion in Genetics & Development, 2010

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.

McInerney NM 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

Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.

García MJ et al.

Breast Cancer Research and Treatment, 2009

PALB2 sequence variants in young South African breast cancer patients.

Sluiter M et al.

Familial Cancer, 2009

Penetrance analysis of the PALB2 c.1592delT founder mutation.

Erkko H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

DNA damage and repair: from molecular mechanisms to health implications.

Altieri F et al.

Antioxidants & Redox Signaling, 2008

Analysis of PALB2/FANCN-associated breast cancer families.

Tischkowitz M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

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