Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q380insFs
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BRCA1

NM_007294.4:p.Q380insFs

Associated Papers

Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.

Bu R et al.

International Journal of Molecular Sciences, 2026

41751868 (PubMed )
Supplement: ijms-27-01732-s001.zip › ijms-4074002-supplementary-updated.pdf

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

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

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

Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.

Al Ali AAAA et al.

Journal of Cancer Research and Clinical Oncology, 2025

Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.

Rawashdeh RR et al.

Jco Global Oncology, 2024

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

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._

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

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

Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Agha N 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

Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.

Azribi F et al.

Bmc Cancer, 2021

Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.

Roberts ME et al.

Journal of Genetic Counseling, 2020

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

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 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-s006.xlsx › Total_BRCA1___BRCA2

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

Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.

Ashour M et al.

Cancer Management and Research, 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

Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.

Yang XR et al.

Breast Cancer Research and Treatment, 2017

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

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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