Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Y101Splc
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BRCA1

NM_007294.4:p.Y101Splc

Associated Papers

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

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

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

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

The role of BRCA1 and BRCA2 in prostate cancer.

Li D et al.

Frontiers in Bioscience (landmark Edition), 2013

Germline BRCA1 mutations increase prostate cancer risk.

Leongamornlert D et al.

British Journal of Cancer, 2012

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Wappenschmidt B et al.

Plos One, 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
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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."