Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E673fs
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BRCA1

NM_007294.4:p.E673fs

Associated Papers

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Tuncer SB et al.

Pathology, Research and Practice, 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-s010.xlsx › Asian_MNS_both

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

35753294 (PubMed )
Supplement: mmc1.pdf

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 › BRCA1

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.

Kwong A et al.

Cancers, 2021

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

BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.

Heramb C et al.

Hereditary Cancer in Clinical Practice, 2018

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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."