Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L1813_V1814insA
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BRCA2

NM_000059.4:p.L1813_V1814insA

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

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.

Rosner G et al.

Clinical and Translational Gastroenterology, 2024

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Abu Shtaya A et al.

Cancers, 2023

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.

Bernstein-Molho R et al.

Cancer, 2021

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Sekine M et al.

Genes, 2021

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp002.pdf

The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.

Ebrahimi E et al.

Cancer Prevention Research (philadelphia, Pa.), 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 › BRCA2_ethnic_sources_

Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.

Palmirotta R et al.

International Journal of Molecular Sciences, 2018

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

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.

Holeckova K et al.

In Vivo (athens, Greece), 0

Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.

Köpp A et al.

Neuro-oncology Advances, 0

41664825 (PubMed )
Supplement: vdaf270_supplementary_data.zip › Table_S2.xlsx › Variants_Blood_and_CSF
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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."