Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T150insFs
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BRCA1

NM_007294.4:p.T150insFs

Associated Papers

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

Makhetha M et al.

Journal of Genetic Counseling, 2024

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

Genetics of breast cancer in African populations: a literature review.

Abbad A et al.

Global Health, Epidemiology and Genomics, 2018

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

Reeves MD et al.

International Journal of Cancer, 2004

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A

International Journal of Cancer, 2002

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T et al.

Genomics, 1999

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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."