Varaico: Literature-Extracted Genetic Variants

Gene:PALB2
Variant:p.Q460R
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PALB2

NM_024675.4:p.Q460R

Associated Papers

Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.

Boonen RACM et al.

Nature Communications, 2026

41554690 (PubMed )
Supplement: 41467_2025_67252_MOESM7_ESM.xlsx › Suppl._Table_5

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

Case Report: Genomic insights into prostate adenocarcinoma transdifferentiation to carcinosarcoma due to lineage plasticity.

Fukui T et al.

Frontiers in Oncology, 2025

Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.

Fortuno C et al.

European Journal of Human Genetics : Ejhg, 2024

39402389 (PubMed )
Supplement: 41431_2024_1705_MOESM2_ESM.xlsx › PALB2

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Zhang L et al.

Molecular Oncology, 2022

35971249 (PubMed )
Supplement: MOL2-16-3689-s005.xlsx › Table_S3

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S18

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Genetic heterogeneity during breast cancer progression in young patients.

Hagio K et al.

Breast (edinburgh, Scotland), 2021

Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.

Hata T et al.

Annals of Gastroenterological Surgery, 2021

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s003.xlsx › Table_S2

Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Suzuki A et al.

Science Advances, 2020

32426482 (PubMed )
Supplement: aav9778_SM.pdf

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Terashima T et al.

Oncotarget, 2019

31666926 (PubMed )
Supplement: oncotarget-10-5949-s002.xlsx › Table_S3

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

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

Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Nakagaki T et al.

Oncotarget, 2017

28938622 (PubMed )
Supplement: oncotarget-08-59113-s006.xlsx › Table_S5

Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer.

Nakagomi H et al.

International Journal of Clinical Oncology, 2016

Germline Variants of Prostate Cancer in Japanese Families.

Hayano T et al.

Plos One, 2016

27701467 (PubMed )
Supplement: pone.0164233.s005.xlsx › Table_S5
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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."