Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q350*
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PALB2

NM_024675.4:p.Q350*

Associated Papers

PALB2 germline pathogenic variants: frequency, clinical features, and functional analysis of c.3350+5G>A variant in 3987 Korean cancer patients.

Kang MC et al.

Esmo Open, 2025

Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.

Sae-Lim C et al.

Journal of Breast Cancer, 2024

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

Park JE et al.

Cancers, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).

Kim JW et al.

Journal for Immunotherapy of Cancer, 2024

38485184 (PubMed )
Supplement: jitc-2023-008638supp001.pdf

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

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

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

Kwong A et al.

Cancers, 2021

Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Ryu JS et al.

Cancer Science, 2020

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

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

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