Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K739*
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BRCA1

NM_007294.4:p.K739*

Associated Papers

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_S2

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

Incidental Serous Tubal Intraepithelial Carcinoma Finding in a Nepalese Patient Undergoing Opportunistic Salpingectomy and the Discovery of a BRCA1 Pathogenic Variant.

Tischer KM et al.

O&g Open, 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

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM6_ESM.xlsx › BRCA1

Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System.

de Oliveira Ferreira C et al.

Bmc Cancer, 2024

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

Comparison of genomic profiling of circulating tumor DNA in pancreaticobiliary malignancies in plasma and bile.

Ohyama H et al.

Cancer, 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-s005.xlsx › Chinese

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Rao ND et al.

Plos One, 2023

36753473 (PubMed )
Supplement: pone.0278010.s002.xlsx › Table_S1

Landscape of germline BRCA1/BRCA2 variants in breast and ovarian cancer in Peru.

Ferreyra Y et al.

Frontiers in Oncology, 2023

Founder BRCA1 mutations in Nepalese population.

Mehta A et al.

Journal of Pathology and Translational Medicine, 2022

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

The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.

Tone AA et al.

Gynecologic Oncology, 2021

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.

Mehta A et al.

Cancer Management and Research, 2018

Detection of false positive mutations in BRCA gene by next generation sequencing.

Suryavanshi M et al.

Familial Cancer, 2017

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

Maistro S et al.

Bmc Cancer, 2016

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

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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."