Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.P3300_P3301insFs
Back to variants list

BRCA2

NM_000059.4:p.P3300_P3301insFs

Associated Papers

A phase Ib study of sapacitabine and olaparib in patients with BRCA1/2-mutated metastatic breast cancer.

Lynce F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

A practice changing paper: biallelic inactivation of BRCA2 in Fanconi anaemia.

Prepelita D et al.

Bjc Reports, 2024

Therapeutic disruption of RAD52-ssDNA complexation via novel drug-like inhibitors.

Bhat DS et al.

Nar Cancer, 2023

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Biswas K et al.

Npj Genomic Medicine, 2020

33293522 (PubMed )
Supplement: 41525_2020_158_MOESM1_ESM.pdf

Simultaneous Targeting of PARP1 and RAD52 Triggers Dual Synthetic Lethality in BRCA-Deficient Tumor Cells.

Sullivan-Reed K et al.

Cell Reports, 2018

29898385 (PubMed )
Supplement: NIHMS977847-supplement-1.pdf

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Colombo M et al.

Human Mutation, 2018

Single-molecule localization microscopy reveals molecular transactions during RAD51 filament assembly at cellular DNA damage sites.

Haas KT et al.

Nucleic Acids Research, 2018

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability.

Tan SLW et al.

Cell, 2017

A novel role for non-ubiquitinated FANCD2 in response to hydroxyurea-induced DNA damage.

Chen X et al.

Oncogene, 2016

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.

Godthelp BC et al.

Mutation Research, 2006

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia.

Barber LM et al.

British Journal of Haematology, 2005

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

Meyer S et al.

Genes, Chromosomes & Cancer, 2005

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

Reid S et al.

Journal of Medical Genetics, 2005

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Offit K et al.

Journal of the National Cancer Institute, 2003

Androgen pathway dysregulation in BRCA1-mutated breast tumors.

Berns EM et al.

Breast Cancer Research and Treatment, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."