Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A806delFs
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BRCA1

NM_007294.4:p.A806delFs

Associated Papers

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S2

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

Prevalence of tumor BRCA1 and BRCA2 dysfunction in unselected patients with ovarian cancer.

Kalachand RD et al.

Obstetrics & Gynecology Science, 2020

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

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-s004.xlsx › BRCA1

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

Pinto P et al.

Breast Cancer Research and Treatment, 2016

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s002.xlsx › Sheet1

Deleterious BRCA1/2 mutations in an urban population of Black women.

Lynce F et al.

Breast Cancer Research and Treatment, 2015

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Peixoto A et al.

Clinical Genetics, 2015

Hereditary breast cancer in the Han Chinese population.

Cao W et al.

Journal of Epidemiology, 2013

23318652 (PubMed )
Supplement: je-23-075-s001.pdf

Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.

Zhang J et al.

Breast Cancer Research and Treatment, 2012

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

Breast cancer genetics in African Americans.

Olopade OI et al.

Cancer, 2003

Classification of IVS1-10T-->C as a polymorphism of BRCA1.

Fetzer S et al.

Cancer Genetics and Cytogenetics, 1999

Mutation analysis of BRCA1, TP53, and KRAS2 in ovarian and related pelvic tumors.

Tworek H et al.

Cancer Genetics and Cytogenetics, 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."