Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I3312V
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BRCA2

NM_000059.4:p.I3312V

Associated Papers

Reclassification of BRCA1 and BRCA2 Variants of Unknown Significance in a Turkish Cohort; A Single-Center, Retrospective Study.

Özer L et al.

European Journal of Breast Health, 2025

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.

Wu Z et al.

Bmc Cancer, 2024

38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

The relationship between mutation carriage of BRCA1/2 and clinicopathological characteristics in women with breast cancer - experience from a diagnostic centre in Turkey.

Duzkale N et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2024

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

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-s002.xlsx › BRCA2

Germline variants associated with breast cancer in Khakass women of North Asia.

Gervas P et al.

Molecular Biology Reports, 2023

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

G V et al.

Frontiers in Genetics, 2022

36561320 (PubMed )
Supplement: Table2.xlsx › BRCA2

Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.

Tariq H et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.

Gervas P et al.

Molecular Biology Reports, 2020

New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.

Gervas P et al.

Molecular Biology Reports, 2019

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Shin S et al.

Oncotarget, 2017

28422718 (PubMed )
Supplement: oncotarget-08-34858-s002.xlsx › Table_1

A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans.

Goebel K et al.

Veterinary Medicine and Science, 2017

BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.

Yılmaz NK et al.

Journal of the Turkish German Gynecological Association, 2016

Clinical assessment incorporating a personal genome.

Ashley EA et al.

Lancet (london, England), 2010

Insertion/deletion polymorphism in the BRCA2 nuclear localization signal.

Yoshikawa Y et al.

Biomedical Research (tokyo, Japan), 2005

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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."