Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1676delFs
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BRCA1

NM_007294.4:p.L1676delFs

Associated Papers

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM3_ESM.xlsx › PrimaryRecurrent_cohort_tumors

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.

Wang Y et al.

Nature Communications, 2019

Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells.

Dev H et al.

Nature Cell Biology, 2018

30022119 (PubMed )
Supplement: NIHMS78112-supplement-Supplementary_table_5.xlsx › Fig_7b

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O et al.

Familial Cancer, 2010

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families of Eastern Spain.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2008

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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."