Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S573L
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BRCA1

NM_007294.4:p.S573L

Associated Papers

NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.

Verzè M et al.

The Journal of Liquid Biopsy, 2024

RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.

Wang Q et al.

Frontiers in Oncology, 2023

37441425 (PubMed )
Supplement: Table_3.xlsx › mutations

Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.

de Witte CJ et al.

Cancers, 2022

35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS8_CHORD_result

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › Momozawa_et_al.

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › 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-s006.xlsx › Total_BRCA1___BRCA2
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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."