Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L22insFs
Back to variants list

BRCA1

NM_007294.4:p.L22insFs

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

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.

Jiang Z et al.

Future Science Oa, 2025

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.

Rashid MU et al.

International Journal of Cancer, 2025

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.

Wu J et al.

Journal of Translational Medicine, 2025

41188832 (PubMed )
Supplement: 12967_2025_7068_MOESM2_ESM.xlsx › Sheet1

Cancer Incidence Rates Between BRCA1/2 Pathogenic Variant Carriers and Non-Carriers in Real-World Clinical Practice.

Ebata A et al.

The Tohoku Journal of Experimental Medicine, 2025

Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.

Deng Z et al.

Translational Oncology, 2025

40738016 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Whole Exome Sequencing-identified Germline Variants Underlie High Familial Risk and Early-onset Colorectal Cancer in Taiwan.

Huang YC et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.

Osler TS et al.

Cancer Medicine, 2025

40042150 (PubMed )
Supplement: CAM4-14-e70743-s001.docx

Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.

Sarmadi A et al.

Advanced Biomedical Research, 2025

Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.

Moukadem HA et al.

World Journal of Clinical Oncology, 2024

Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

Elze L et al.

Journal of the National Cancer Institute, 2024

38960732 (PubMed )
Supplement: djae160_supplementary_data.zip › djae160_Supplementary_Data › JNCI-24-0169_supplementaryTables_revised.xlsx › Supplementary_Table_S1

Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.

Lila K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

39733403 (PubMed )
Supplement: APJCP-25-4145-s001.xlsx › Supplementry_Table_1

Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.

Faria JP et al.

Breast Cancer Research and Treatment, 2024

Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.

Abdel-Razeq H et al.

World Journal of Oncology, 2024

39328331 (PubMed )
Supplement: wjon-15-777-s002.pdf

Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.

Kwong A et al.

Cancers, 2024

39272924 (PubMed )
Supplement: cancers-16-03066-s001.zip › cancers-3162067-SI.pdf

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.

Gervas P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.

Makhetha M et al.

Journal of Genetic Counseling, 2024

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

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

Zhao B et al.

Bmc Cancer, 2024

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

38504328 (PubMed )
Supplement: 40001_2024_1767_MOESM1_ESM.xlsx › BRCA1

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Tuncer SB et al.

Pathology, Research and Practice, 2024

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s001.xlsx › Supp_Table_6

Next-generation sequencing-based analysis of homologous recombination repair gene variant in ovarian cancer.

Song Y et al.

Heliyon, 2024

Long-term outcomes of young, node-negative, chemotherapy-naïve, triple-negative breast cancer patients according to BRCA1 status.

Wang Y et al.

Bmc Medicine, 2024

38191387 (PubMed )
Supplement: 12916_2023_3233_MOESM3_ESM.docx

Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.

Sokolenko AP et al.

Breast Cancer Research and Treatment, 2024

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer.

Eras N et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2024

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.

Corso G et al.

European Journal of Human Genetics : Ejhg, 2023

Differential Sensitivity of Germline and Somatic BRCA Variants to PARP Inhibitor in High-Grade Serous Ovarian Cancer.

Vendrell JA et al.

International Journal of Molecular Sciences, 2023

37762485 (PubMed )
Supplement: ijms-24-14181-s001.zip › Table_S2.xlsx › Supplementary_Table_2

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.

Ahmad O et al.

Hereditary Cancer in Clinical Practice, 2023

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

Wen H et al.

Jama Network Open, 2023

37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf

HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?

Kekeeva T et al.

International Journal of Molecular Sciences, 2023

Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication.

Okunola AO et al.

Expert Review of Molecular Diagnostics, 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
1–50 of 142 papers
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."