Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C328fs
Back to variants list

BRCA1

NM_007294.4:p.C328fs

Associated Papers

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

Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.

Dong L et al.

Cells, 2022

36428992 (PubMed )
Supplement: cells-11-03563-s001.zip › cells-2008746-supplementary.pdf

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

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

Combination ATR and PARP Inhibitor (CAPRI): A phase 2 study of ceralasertib plus olaparib in patients with recurrent, platinum-resistant epithelial ovarian cancer.

Shah PD et al.

Gynecologic Oncology, 2021

Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.

Bernstein-Molho R et al.

Cancer, 2021

Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.

Liu Y et al.

Journal of Hematology & Oncology, 2021

Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.

Li J et al.

Frontiers in Oncology, 2021

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Shen L et al.

Frontiers in Oncology, 2021

Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.

Deng H et al.

Molecular Genetics & Genomic Medicine, 2019

Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Wang J et al.

Cancer Medicine, 2019

30982232 (PubMed )
Supplement: CAM4-8-2074-s007.xlsx › Sheet1

Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Liang Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

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."