Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L1260delFs
Back to variants list

BRCA1

NM_007294.4:p.L1260delFs

Associated Papers

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

Kulikowska B et al.

Cancers, 2026

Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.

Livshun S et al.

Scientific Reports, 2025

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.

Shaw CA et al.

American Journal of Human Genetics, 2025

40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.NON-SNP_all_variants

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-s010.xlsx › MNS_only

The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.

Mroczek M et al.

Frontiers in Oncology, 2023

36845707 (PubMed )
Supplement: Table_3.xls › Tabelle1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Evans DG et al.

Journal of Medical Genetics, 2022

33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf

Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.

Ostrowska M et al.

Journal of Genomics, 2022

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 › BRCA1_ethnic_source_

PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Kluska A et al.

Bmc Medical Genomics, 2017

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

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

High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

Konstantopoulou I et al.

Clinical Genetics, 2014

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

Stavropoulou AV et al.

Plos One, 2013

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."