Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1841delFs
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BRCA1

NM_007294.4:p.S1841delFs

Associated Papers

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

Jiang Z et al.

Future Science Oa, 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

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

Application of clinical exome sequencing in sperm donor screening in China.

Huang J et al.

Journal of Assisted Reproduction and Genetics, 2025

Rapid development of acute monocytic leukemia (AML-M5b) with t(9;11)(p22;q23) after chemotherapy for T-cell lymphoblastic lymphoma: A case report.

Cai J et al.

Heliyon, 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

Characteristics of Chinese breast cancer patients with double heterozygosity for BRCA1 and BRCA2 germline pathogenic variants.

Wen S et al.

Breast Cancer Research and Treatment, 2024

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 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

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

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.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

BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Fu X et al.

Frontiers in Cell and Developmental Biology, 2022

35300412 (PubMed )
Supplement: DataSheet1.xlsx › Sheet1

Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.

Li A et al.

Journal of Oncology, 2022

Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.

Ji G et al.

Journal of Cancer Research and Clinical Oncology, 2021

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.

Dong H et al.

Journal of Medical Genetics, 2021

BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients.

Meng H et al.

International Journal of Cancer, 2020

Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.

Wen L et al.

The Journal of International Medical Research, 2020

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.

Huang X et al.

Frontiers in Oncology, 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

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-s004.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

The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

Lang GT et al.

International Journal of Cancer, 2017

Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.

Zhang J et al.

Breast Cancer Research and Treatment, 2016

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

Kim YC et al.

Oncotarget, 2016

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

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

Pan M et al.

Human Mutation, 2011

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