Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.N1355fs
Back to variants list

BRCA1

NM_007294.4:p.N1355fs

Associated Papers

Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.

Samigatova A et al.

Scientific Reports, 2026

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

Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.

Cardona DS et al.

Cancer Epidemiology, 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

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S11

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

Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.

Han L et al.

Cancer Science, 2025

40022542 (PubMed )
Supplement: CAS-116-1449-s007.xlsx › NG2022_n_110_

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

40257527 (PubMed )
Supplement: 432_2025_6188_MOESM1_ESM.xlsx › Cancer_Cohort

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.

Reiner AS et al.

Jama Network Open, 2024

39786405 (PubMed )
Supplement: jamanetwopen-e2452158-s001.pdf

Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.

Manirakiza AV et al.

Npj Genomic Medicine, 2024

Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.

Helbling-Leclerc A et al.

International Journal of Molecular Sciences, 2024

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

Rawashdeh RR et al.

Jco Global Oncology, 2024

Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

Pitiot AS et al.

Clinical Genetics, 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

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

Zhao B et al.

Bmc Cancer, 2024

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.

Kansuttiviwat C et al.

Npj Genomic Medicine, 2024

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

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

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s002.xls › Supplementary_Table_4

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

Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.

Öfverholm A et al.

Bmc Cancer, 2023

37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1

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

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I et al.

European Journal of Breast Health, 2023

High-grade serous ovarian carcinoma organoids as models of chromosomal instability.

Vias M et al.

Elife, 2023

37166279 (PubMed )
Supplement: elife-83867-supp2.xlsx › Mutation_analysis

Older age should not be a barrier to testing for somatic variants in homologous recombination DNA repair-related genes in patients with high-grade serous ovarian carcinoma.

Pitiyarachchi O et al.

Translational Oncology, 2023

36805919 (PubMed )
Supplement: mmc1.docx

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-s006.xlsx › BRCA1

Characterization of BRCA Deficiency in Ovarian Cancer.

Barbero G et al.

Cancers, 2023

A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report.

Scherz A et al.

The Application of Clinical Genetics, 2023

The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations.

Hughes T et al.

Frontiers in Oncology, 2023

A MALDI-TOF mass spectrometry-based method for detection of copy number variations in BRCA1 and BRCA2 genes.

Zhou H et al.

Frontiers in Molecular Biosciences, 2023

38274092 (PubMed )
Supplement: Table3.XLSX › 2b

Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.

Borlin PR et al.

Pediatric Blood & Cancer, 2022

Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A et al.

Breast (edinburgh, Scotland), 2022

Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.

Goebel EA et al.

Genes, 2022

36011309 (PubMed )
Supplement: genes-13-01398-s001.zip › genes-1797999-supplementary.xlsx › Variants_Table

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

Zhang Y et al.

Bmc Cancer, 2022

Chasing the origin of 23 recurrent BRCA1 mutations in Pakistani breast and ovarian cancer patients.

Rashid MU et al.

International Journal of Cancer, 2022

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Bang YJ et al.

Cancer Research and Treatment, 2022

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.

Akbar F et al.

Hereditary Cancer in Clinical Practice, 2022

Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Wen H et al.

Bmc Cancer, 2022

35578198 (PubMed )
Supplement: 12885_2022_9602_MOESM9_ESM.xlsx › Table_S6
1–50 of 108 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."