Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1469Q
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BRCA1

NM_007294.4:p.P1469Q

Associated Papers

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

Nagy G et al.

Plos One, 2023

37917606 (PubMed )
Supplement: pone.0293422.s008.xlsx › Table_S2.Compiled_Results

Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Jara L et al.

Biological Research, 2017

28985766 (PubMed )
Supplement: 40659_2017_139_MOESM1_ESM.xlsx › TABLE_I

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Silva FC et al.

Bmc Medical Genetics, 2014

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2010

Advantages of the high resolution melting in the detection of BRCA1 or BRCA2 mutation carriers.

Jiménez Ide J et al.

Clinical Biochemistry, 2009

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

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."