Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D427fs
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BRCA2

NM_000059.4:p.D427fs

Associated Papers

Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.

Sudo K et al.

British Journal of Cancer, 2024

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Treatment-related neuroendocrine prostate cancer with BRCA2 germline mutation treated with olaparib.

Ikeda R et al.

Iju Case Reports, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_6

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.

Mori T et al.

Cancer Medicine, 2023

36345163 (PubMed )
Supplement: CAM4-12-6594-s002.xlsx › Supp_Table1

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Akamatsu S et al.

Jnci Cancer Spectrum, 2022

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Arai_et_al.

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_MOESM5_ESM.xlsx › SD2

Germline BRCA2 mutations detected in pediatric sequencing studies impact parents' evaluation and care.

Walsh MF et al.

Cold Spring Harbor Molecular Case Studies, 2017

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW et al.

Jama Oncology, 2016

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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."