Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D369del1
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BRCA1

NM_007294.4:p.D369del1

Associated Papers

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3

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 › Total_BRCA1___BRCA2

Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.

Yost S et al.

Jnci Cancer Spectrum, 2019

31360904 (PubMed )
Supplement: supplementary_table_pkz028.zip › 20181104_Supplementary_Tables.xlsx › Supplementary_Table_2

A guide for functional analysis of BRCA1 variants of uncertain significance.

Millot GA et al.

Human Mutation, 2012

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

Schroeder C et al.

Breast Cancer Research and Treatment, 2010

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G et al.

Cancer Research, 2006

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

Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.

Unknown Author

British Journal of Cancer, 2000

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