Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S956_Q957delFs
Back to variants list

BRCA1

NM_007294.4:p.S956_Q957delFs

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.

Kulikowska B et al.

Cancers, 2026

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S2

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s005.xlsx › Chinese

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Hakkaart C et al.

Communications Biology, 2022

36203093 (PubMed )
Supplement: 42003_2022_3978_MOESM4_ESM.xlsx › Supplementary_Data_13

Increased gene expression variability in BRCA1-associated and basal-like breast tumours.

Wiggins GAR et al.

Breast Cancer Research and Treatment, 2021

34287743 (PubMed )
Supplement: 10549_2021_6328_MOESM3_ESM.xlsx › Sheet1

Targeted Next-generation Sequencing for Reliable Detection of Genetic Status in Breast Cancer.

Tariq H et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021

Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.

Tariq H et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.

Su Y et al.

Frontiers in Genetics, 2021

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Using next-generation sequencing (NGS) platform to diagnose pathogenic germline BRCA1/2 mutations from archival tumor specimens.

Ong PY et al.

Gynecologic Oncology, 2019

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

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

Wojcik P et al.

Hereditary Cancer in Clinical Practice, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."