Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L147_Q148Splc
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BRCA1

NM_007294.4:p.L147_Q148Splc

Associated Papers

Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.

Handoko et al.

Scientific Reports, 2025

40594369 (PubMed )
Supplement: 41598_2025_6096_MOESM8_ESM.zip › Supp_Data_6 › S6_SNV.xlsx › BRCA1

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM3_ESM.xlsx › Sheet1

Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.

Wu Z et al.

Bmc Cancer, 2024

38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification

Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.

Muhammad N et al.

Hereditary Cancer in Clinical Practice, 2023

CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.

Fishchuk L et al.

Experimental Oncology, 2023

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-s002.xlsx › BRCA1

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Hovland HN et al.

Familial Cancer, 2022

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-2-imr-10.1177_03000605211070757.pdf

Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Ebner S et al.

Oncotarget, 2022

Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Salmi F et al.

Plos One, 2021

Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer.

Yildiz Tacar S et al.

Life Sciences, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC36

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 › ARUP

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Urbina-Jara LK et al.

Genes, 2019

BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

Cifuentes-C L et al.

Colombia Medica (cali, Colombia), 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 › BRCA1_ethnic_source_

Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Zayas-Villanueva OA et al.

Bmc Cancer, 2019

31331294 (PubMed )
Supplement: 12885_2019_5950_MOESM1_ESM.xlsx › Healthy

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Fernández-Lopez JC et al.

Human Genomics, 2019

30630528 (PubMed )
Supplement: 40246_2018_188_MOESM2_ESM.xlsx › Hoja1

Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.

Geredeli C et al.

International Journal of Breast Cancer, 2019

Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Buleje J et al.

Molecular Genetics & Genomic Medicine, 2017

Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.

Buzolin AL et al.

Human Genomics, 2017

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Meisel C et al.

Archives of Gynecology and Obstetrics, 2017

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

Zanella I et al.

Experimental and Molecular Pathology, 2017

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD et al.

Human Mutation, 2017

27767231 (PubMed )
Supplement: HUMU-38-226-s002.xlsx › SupplementaryTable4

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Castellanos E et al.

Scientific Reports, 2017

28051113 (PubMed )
Supplement: srep39348-s1.pdf

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

Maistro S et al.

Bmc Cancer, 2016

27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › TableS2

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Palmero EI et al.

Genetics and Molecular Biology, 2016

Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.

de Oliveira ES et al.

Familial Cancer, 2016

Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Dodova RI et al.

Bmc Cancer, 2015

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A et al.

Bmc Medical Genomics, 2015

25948282 (PubMed )
Supplement: 12920_2015_92_MOESM1_ESM.xlsx › Table_S1

Massive Parallel Sequencing for Diagnostic Genetic Testing of BRCA Genes--a Single Center Experience.

Ermolenko NA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.

Biunno I et al.

Familial Cancer, 2014

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Ruiz A et al.

Biomed Research International, 2014

25136594 (PubMed )
Supplement: 542541.f1.pdf

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.

Ahmad J et al.

Clinical Genetics, 2012

BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

Tazzite A et al.

Gynecologic Oncology, 2012

Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

Levanat S et al.

Gene, 2012

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F et al.

Disease Markers, 2012

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

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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."