Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1379delFs
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BRCA1

NM_007294.4:p.S1379delFs

Associated Papers

From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.

Al Bader SB et al.

Biomedicines, 2025

41463058 (PubMed )
Supplement: biomedicines-13-03047-s001.zip › biomedicines-4005941-supplementary.pdf

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Ekram SN et al.

Discover Oncology, 2025

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A et al.

European Journal of Human Genetics : Ejhg, 2024

39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

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

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC et al.

Breast Cancer Research and Treatment, 2022

Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Momozawa Y et al.

Jama Oncology, 2022

35420638 (PubMed )
Supplement: jamaoncol-e220476-s001.pdf

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

Luo Y et al.

International Journal of General Medicine, 2022

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-s004.xlsx › BRCA1

Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.

Siraj AK et al.

Human Mutation, 2019

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Al-Dewik N et al.

American Journal of Medical Genetics. Part A, 2019

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.

Kemp Z et al.

Jama Network Open, 2019

31125106 (PubMed )
Supplement: jamanetwopen-2-e194428-s001.pdf

BRCA mutation screening and patterns among high-risk Lebanese subjects.

Farra C et al.

Hereditary Cancer in Clinical Practice, 2019

Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.

Rahman S et al.

Gene, 2018

Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.

Abulkhair O et al.

Journal of Global Oncology, 2018

High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.

Alhuqail AJ et al.

Breast Cancer Research and Treatment, 2018

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Lesueur F et al.

Frontiers in Oncology, 2018

30430080 (PubMed )
Supplement: Table_2.XLSX › Supplementary_Table_2

Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.

Bu R et al.

International Journal of Cancer, 2016

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s002.xlsx › Sheet1

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

Peixoto A et al.

Clinical Genetics, 2015

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

Trujillano D et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Spectrum of BRCA1/2 pathogenic variants in Southern and Western Asia-a systematic review.

Khan S et al.

Mutation Research. Reviews in Mutation Research, 0

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