Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T1691T
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BRCA1

NM_007294.4:p.T1691T

Associated Papers

Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes.

Schwartz CJ et al.

Npj Breast Cancer, 2025

40691172 (PubMed )
Supplement: 41523_2025_794_MOESM1_ESM.xlsx › Sheet1

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_2.

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker LC et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.

Wessman S et al.

Cancers, 2021

Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.

Santonocito C et al.

Cancers, 2020

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.

Coppa A et al.

Cancer Medicine, 2018

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.

Minucci A et al.

Human Genome Variation, 2018

[Ovarian cancer is in many ways a heterogeneous disease].

Malander S et al.

Lakartidningen, 2015

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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."