Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L440_T441delFs
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BRCA2

NM_000059.4:p.L440_T441delFs

Associated Papers

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Whole-genome landscapes of 1,364 breast cancers.

Kim R et al.

Nature, 2026

41339552 (PubMed )
Supplement: 41586_2025_9812_MOESM3_ESM.xlsx › ST2

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

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-s005.xlsx › Chinese

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

Classification of High-Grade Serous Ovarian Carcinoma by Epithelial-to-Mesenchymal Transition Signature and Homologous Recombination Repair Genes.

Sohn MH et al.

Genes, 2021

34356119 (PubMed )
Supplement: genes-12-01103-s001.zip › Table_S3.xlsx › Sheet1

Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study.

Lertkhachonsuk AA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › Total_BRCA1___BRCA2

Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.

Ryu JM et al.

Breast Cancer Research and Treatment, 2019

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K et al.

Jama Network Open, 2018

30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf

Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Wojcik P et al.

Hereditary Cancer in Clinical Practice, 2016

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.

Meyer S et al.

Journal of Medical Genetics, 2014

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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."