Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1099fs
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BRCA1

NM_007294.4:p.P1099fs

Associated Papers

Genomic Landscape Features of Minimally Invasive Adenocarcinoma and Invasive Lung Adenocarcinoma.

Zhang W et al.

Global Medical Genetics, 2024

Endometrioid ovarian carcinoma landscape: pathological and molecular characterization.

de Nonneville A et al.

Molecular Oncology, 2024

38923749 (PubMed )
Supplement: MOL2-18-2586-s001.zip › mol213679-sup-0010-TableS7.xlsx › SupTable7

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

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

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

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

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

Bang YJ et al.

Cancer Research and Treatment, 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

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

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

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S3

Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

Ji G et al.

Annals of Translational Medicine, 2021

Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.

Park S et al.

Molecular Cancer Research : Mcr, 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

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

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Cao WM et al.

Bmc Cancer, 2019

Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.

Kim SI et al.

Journal of Ovarian Research, 2019

31064392 (PubMed )
Supplement: 13048_2019_511_MOESM1_ESM.zip › New_Supplementary_Files.pdf

Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Koczkowska M et al.

Cancers, 2018

BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.

Kim DH et al.

Journal of Gynecologic Oncology, 2018

Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Ratajska M et al.

Oncotarget, 2017

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Park B et al.

Breast Cancer Research and Treatment, 2017

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

Kim YC et al.

Oncotarget, 2016

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

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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."