Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E2175Q
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BRCA2

NM_000059.4:p.E2175Q

Associated Papers

CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.

Corso G et al.

Jama Network Open, 2024

38652475 (PubMed )
Supplement: jamanetwopen-e247862-s001.pdf

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

Turner NC et al.

Npj Breast Cancer, 2023

37803017 (PubMed )
Supplement: 41523_2023_561_MOESM1_ESM.pdf

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.

Tomaszowski KH et al.

Nature Communications, 2023

36906610 (PubMed )
Supplement: 41467_2023_36933_MOESM1_ESM.pdf

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3

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

G V et al.

Frontiers in Genetics, 2022

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM3_ESM.xlsx › Sheet1

Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Pasculli B et al.

Frontiers in Oncology, 2020

32903519 (PubMed )
Supplement: Table_1.xlsx › Supplemental_Table_7_

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families.

Slater EP et al.

Familial Cancer, 2010

Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy.

Lynch HT et al.

Cancer, 2008

Roles and responsibilities of a medical geneticist.

Rubinstein WS

Familial Cancer, 2008

Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer.

Chung DC et al.

The New England Journal of Medicine, 2007

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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."