Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1396R
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BRCA1

NM_007294.4:p.Q1396R

Associated Papers

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Brahim SM et al.

Bmc Cancer, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S3

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 › BRCA2_ethnic_sources_

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

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

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

Caux-Moncoutier V et al.

European Journal of Human Genetics : Ejhg, 2009

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
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