Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S767_L771del5
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BRCA2

NM_000059.4:p.S767_L771del5

Associated Papers

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

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

Inhibition of Aberrantly Overexpressed Polo-like Kinase 4 Is a Potential Effective Treatment for DNA Damage Repair-Deficient Uterine Leiomyosarcoma.

Lee HHY et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38848043 (PubMed )
Supplement: ccr-23-3720_supplementary_data_s1_suppsd1.xlsx › Small_Variants

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

Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.

Vidarsdottir L et al.

Npj Breast Cancer, 2023

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGABreast_gBRCA

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

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-s005.xlsx › dbBRCA2

Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Wei H et al.

Oncology Letters, 2018

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM2_ESM.xlsx › Supplementary_Data_1
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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."