Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S308Fs
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BRCA1

NM_007294.4:p.S308Fs

Associated Papers

Exploring the effect of BRCA1/2 status on chemotherapy-induced hematologic toxicity in patients with ovarian cancer.

Lee IH et al.

Cancer Chemotherapy and Pharmacology, 2024

Pathological findings and long-term prognosis in Korean BRCA1/2 mutation carriers undergoing risk-reducing salpingo-oophorectomy.

Kang OJ et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 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

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Zhang Y et al.

Bmc Cancer, 2022

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

Bang YJ et al.

Cancer Research and Treatment, 2022

Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

Lavoro A et al.

International Journal of Oncology, 2022

Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.

Lee J et al.

Scientific Reports, 2022

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.

Yoshida R

Breast Cancer (tokyo, Japan), 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

Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

Jung Y et al.

Journal of Gynecologic Oncology, 2021

33470065 (PubMed )
Supplement: jgo-32-e23-s001.xls › jgo-32-e23-s001

Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.

Park K et al.

Journal of Clinical Laboratory Analysis, 2020

Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Ha HI et al.

Journal of Gynecologic Oncology, 2020

33078592 (PubMed )
Supplement: jgo-31-e83-s007.xls › jgo-31-e83-s007

Germline and Somatic BRCA1/2 Gene Mutational Status and Clinical Outcomes in Epithelial Peritoneal, Ovarian, and Fallopian Tube Cancer: Over a Decade of Experience in a Single Institution in Korea.

Kim SI et al.

Cancer Research and Treatment, 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Clinical Characteristics of Korean Breast Cancer Patients Who Carry Pathogenic Germline Mutations in Both BRCA1 and BRCA2: A Single-Center Experience.

Hur JY et al.

Cancers, 2020

Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma.

Choi MC et al.

Cancer Research and Treatment, 2020

Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Eoh KJ et al.

Bmc Cancer, 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-s007.xlsx › Asian

The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers.

Mandelker D et al.

Jnci Cancer Spectrum, 2019

31360903 (PubMed )
Supplement: supplementary_data_pkz027.pdf

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

Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Choi MC et al.

Journal of Gynecologic Oncology, 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR et al.

Human Mutation, 2018

Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.

Choi MC et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2018

Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Hwang SM et al.

Cancer Research and Treatment, 2018

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

Park JS et al.

Cancer Research and Treatment, 2017

28111427 (PubMed )
Supplement: crt-2016-433-supple1.xlsx › S1_Table

Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.

Jeong HM et al.

Oncotarget, 2017

Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.

Shin S 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

Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.

Shin S et al.

Breast Cancer Research and Treatment, 2016

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_20.Germline.Analysis.11052015.v2.xlsx › Sheet1

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H et al.

Breast Cancer Research and Treatment, 2012

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

Jang JH et al.

Journal of Human Genetics, 2012

BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

Ahn SH et al.

Cancer Letters, 2007

BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

Seo JH et al.

Human Mutation, 2004

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