Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Y2215fs
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BRCA2

NM_000059.4:p.Y2215fs

Associated Papers

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

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-s010.xlsx › MNS_only

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B et al.

Haematologica, 2023

35417938 (PubMed )
Supplement: 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx › Table_S2

It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer.

Lee PWP et al.

Case Reports in Oncological Medicine, 2023

Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.

Goebel EA et al.

Genes, 2022

36011309 (PubMed )
Supplement: genes-13-01398-s001.zip › genes-1797999-supplementary.xlsx › Variants_Table

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA2

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.

Lovejoy LA et al.

Military Medicine, 2021

Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.

Lotan TL et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33462368 (PubMed )
Supplement: NIHMS1655161-supplement-1.pdf

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Manickam K et al.

Jama Network Open, 2018

30646163 (PubMed )
Supplement: jamanetwopen-1-e182140-s001.pdf

Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.

Isaacsson Velho P et al.

The Prostate, 2018

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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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."