Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1110insFs
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BRCA1

NM_007294.4:p.K1110insFs

Associated Papers

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

Mariya T et al.

Human Genome Variation, 2026

41565638 (PubMed )
Supplement: 41439_2026_335_MOESM1_ESM.xlsx › SupplementaryTable1

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

Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population.

Yu S et al.

Cancer Pathogenesis and Therapy, 2025

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

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

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

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

Combination ATR (ceralasertib) and PARP (olaparib) Inhibitor (CAPRI) Trial in Acquired PARP Inhibitor-Resistant Homologous Recombination-Deficient Ovarian Cancer.

Wethington SL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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

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

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

DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Liu J et al.

Genome Medicine, 2022

35209950 (PubMed )
Supplement: 13073_2022_1027_MOESM22_ESM.xls › Sheet1

Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.

Khailany RA et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2021

NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

Tomioka K et al.

Scientific Reports, 2021

Efficacy of platinum in advanced triple-negative breast cancer with germline BRCA mutation determined by next generation sequencing.

Wang N et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2020

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-s004.xlsx › BRCA1

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s002.xlsx › Sheet1

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Pan M et al.

Human Mutation, 2011

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

De Leeneer K et al.

Human Mutation, 2011

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