Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E13*
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BRCA2

NM_000059.4:p.E13*

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.

Bose M et al.

The Journal of Clinical Investigation, 2025

Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population.

Yu S et al.

Cancer Pathogenesis and Therapy, 2025

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 2024

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2

Prolonged response on olaparib maintenance in metastatic pancreatic acinar cell carcinoma associated with a germline BRCA 2 mutation, revealed by severe panniculitis.

Lelong M et al.

Clinical Case Reports, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.

Leitsalu L et al.

European Journal of Human Genetics : Ejhg, 2021

Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome.

Hollis RL et al.

Nature Communications, 2020

33020491 (PubMed )
Supplement: 41467_2020_18819_MOESM1_ESM.pdf

Prostate Cancer Risk by BRCA2 Genomic Regions.

Nyberg T et al.

European Urology, 2020

32532514 (PubMed )
Supplement: mmc1.pdf

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

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 › ENIGMA

Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.

Apessos A et al.

Cancer Genetics, 2018

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Muller E et al.

Oncotarget, 2016

27825131 (PubMed )
Supplement: oncotarget-07-79485-s002.pdf
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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."