Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E456delFs
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BRCA2

NM_000059.4:p.E456delFs

Associated Papers

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

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-s010.xlsx › Asian_only

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

Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.

Ho PJ et al.

Bmc Medicine, 2022

35468796 (PubMed )
Supplement: 12916_2022_2334_MOESM2_ESM.xlsx › sT2

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

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

Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.

Manchana T et al.

World Journal of Clinical Oncology, 2019

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

BRCA mutation in high grade epithelial ovarian cancers.

Manchana T et al.

Gynecologic Oncology Reports, 2019

Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

de Juan Jiménez I et al.

Familial Cancer, 2013

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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."