Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.I379insFs
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BRCA1

NM_007294.4:p.I379insFs

Associated Papers

Prevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer.

Mortimer JE et al.

Jama Network Open, 2025

BRCA mutation testing and association with oncologic outcome and incidence of ovarian cancer in Norway.

Birgisdóttir A et al.

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2025

CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.

Fishchuk L et al.

Experimental Oncology, 2023

The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.

Oubaddou Y et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.

Yanus GA et al.

Familial Cancer, 2023

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 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

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

34298626 (PubMed )
Supplement: cancers-13-03406-s001.zip › cancers-1247507-supplementary › Supplementary_Tables_V12_18062021_REFs.xlsx › Supp_Table_2

Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Chen VL et al.

Nature Communications, 2021

33547301 (PubMed )
Supplement: 41467_2020_20870_MOESM1_ESM.pdf

Comprehensive molecular profiling broadens treatment options for breast cancer patients.

Kawaji H et al.

Cancer Medicine, 2021

Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family.

Liao Y et al.

Journal of Assisted Reproduction and Genetics, 2020

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.

Behl S et al.

Scientific Reports, 2020

Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.

Møller P et al.

Cancers, 2019

Candidate synthetic lethality partners to PARP inhibitors in the treatment of ovarian clear cell cancer.

Kawahara N et al.

Biomedical Reports, 2017

Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.

Wu H et al.

Gene Therapy, 2017

Expression of Nestin associates with BRCA1 mutations, a basal-like phenotype and aggressive breast cancer.

Krüger K et al.

Scientific Reports, 2017

28439082 (PubMed )
Supplement: 41598_2017_862_MOESM1_ESM.pdf

First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.

Meynard G et al.

Oncology Reports, 2017

Proliferation and ovarian hormone signaling are impaired in normal breast tissues from women with BRCA1 mutations: benefit of a progesterone receptor modulator treatment as a breast cancer preventive strategy in women with inherited BRCA1 mutations.

Communal L et al.

Oncotarget, 2016

The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.

Dutil J et al.

Breast Cancer Research and Treatment, 2015

26564481 (PubMed )
Supplement: 10549_2015_3629_MOESM2_ESM.xlsx › Nomenclature_of_variants

Effect of BRCA1 and XPG mutations on treatment response to trabectedin and pegylated liposomal doxorubicin in patients with advanced ovarian cancer: exploratory analysis of the phase 3 OVA-301 study.

Monk BJ et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015

A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

Belanger MH et al.

Journal of Ovarian Research, 2015

Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

Torres-Mejía G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

BRCA1 haploinsufficiency for replication stress suppression in primary cells.

Pathania S et al.

Nature Communications, 2014

BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.

Cecener G et al.

Cancer Investigation, 2014

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Pennington KP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.

Møller P et al.

Clinical Genetics, 2013

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

Shanmughapriya S et al.

Oncology, 2013

Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.

Kooshyar MM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2013

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

Karami F et al.

Biomed Research International, 2013

Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.

Mahfoudh W et al.

Molecular Biology Reports, 2012

BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?

Weghofer A et al.

Plos One, 2012

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.

Thomassen M et al.

Breast Cancer Research and Treatment, 2011

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R

The Epma Journal, 2010

Presymptomatic breast cancer in Egypt: role of BRCA1 and BRCA2 tumor suppressor genes mutations detection.

Ibrahim SS et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2010

BRCA1 gene mutations may explain more than 80% of excess number of ovarian cancer cases after breast cancer - a population based study from the Western Sweden Health Care region.

Einbeigi Z et al.

Acta Oncologica (stockholm, Sweden), 2010

High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series.

Møller P et al.

Hereditary Cancer in Clinical Practice, 2010

A common Greenlandic Inuit BRCA1 RING domain founder mutation.

Hansen TV et al.

Breast Cancer Research and Treatment, 2009

High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations.

de Juan I et al.

Breast Cancer Research and Treatment, 2009

Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.

Lynch HT et al.

Molecular Oncology, 2009

The contribution of BRCA1 and BRCA2 to ovarian cancer.

Ramus SJ et al.

Molecular Oncology, 2009

Hereditary ovarian cancer.

Russo A et al.

Critical Reviews in Oncology/hematology, 2009

Evidence for an ancient BRCA1 mutation in breast cancer patients of Yoruban ancestry.

Zhang B et al.

Familial Cancer, 2009

Methylation not a frequent "second hit" in tumors with germline BRCA mutations.

Dworkin AM et al.

Familial Cancer, 2009

Helene Hudson Memorial Lectureship CANO 2008.

Benjaminson P

Canadian Oncology Nursing Journal = Revue Canadienne De Nursing Oncologique, 2009

The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

Palma MD et al.

Cancer Research, 2008

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

Anagnostopoulos T et al.

Breast Cancer Research and Treatment, 2008

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E et al.

Bmc Cancer, 2008

Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers.

Møller P et al.

European Journal of Cancer (oxford, England : 1990), 2007

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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."