Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E730delFs
Back to variants list

BRCA1

NM_007294.4:p.E730delFs

Associated Papers

Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.

Youssef ASE et al.

Clinical and Experimental Medicine, 2023

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.

Chehade R et al.

Breast Cancer Research : Bcr, 2016

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.

Pal T et al.

Cancer, 2015

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

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

BRCA1 mRNA levels following a 4-6-week intervention with oral 3,3'-diindolylmethane.

Kotsopoulos J et al.

British Journal of Cancer, 2014

BRCA sequencing and large rearrangement testing in young Black women with breast cancer.

Pal T et al.

Journal of Community Genetics, 2014

The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas.

Akbari MR et al.

Clinical Genetics, 2014

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

Zhang S et al.

Gynecologic Oncology, 2011

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Ramus SJ et al.

Human Mutation, 2007

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA et al.

Journal of the National Cancer Institute, 2006

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T et al.

Cancer Research, 2005

Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer.

Jongsma AP et al.

Molecular Pathology : Mp, 2002

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

Risch HA et al.

American Journal of Human Genetics, 2001

The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

Gayther SA et al.

American Journal of Human Genetics, 1999

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."