Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q804*
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BRCA1

NM_007294.4:p.Q804*

Associated Papers

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

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-s005.xlsx › Chinese

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

Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.

Azzollini J et al.

Frontiers in Oncology, 2022

35463374 (PubMed )
Supplement: Table_2.xlsx › BRCA_PVs

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA1_ethnic_source_

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.

Vaclová T et al.

Human Molecular Genetics, 2016

Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.

Benitez-Buelga C et al.

Oncotarget, 2016

27015555 (PubMed )
Supplement: oncotarget-07-25815-s001.pdf

DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.

Vaclová T et al.

Breast Cancer Research and Treatment, 2015

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Ruiz A et al.

Biomed Research International, 2014

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

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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."