Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1471fs
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BRCA1

NM_007294.4:p.G1471fs

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.

El Ansari FZ et al.

Hereditary Cancer in Clinical Practice, 2022

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS et al.

Genome Medicine, 2019

31892343 (PubMed )
Supplement: 13073_2019_691_MOESM1_ESM.pdf

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

Copson ER et al.

The Lancet. Oncology, 2018

29337092 (PubMed )
Supplement: mmc1.pdf

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

Winter C et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

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