Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q350_T351delFs
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PALB2

NM_024675.4:p.Q350_T351delFs

Associated Papers

Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.

Park JE et al.

Cancers, 2024

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s002.xlsx › Sheet1

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_2

Combining rare and common genetic variants improves population risk stratification for breast cancer.

Bolze A et al.

Genetics in Medicine Open, 2024

39669587 (PubMed )
Supplement: mmc1.xlsx › Table_S2

Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.

Anaclerio F et al.

Frontiers in Genetics, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3B

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.

Ng PS et al.

Journal of Medical Genetics, 2022

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.

Bono M et al.

Esmo Open, 2021

Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Fanale D et al.

Cancers, 2020

Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

Isaacsson Velho P et al.

The Prostate, 2018

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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."