Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L1164insFs
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BRCA2

NM_000059.4:p.L1164insFs

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

Fanconi Anaemia, Childhood Cancer and the BRCA Genes.

Woodward ER et al.

Genes, 2021

Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.

Laish I et al.

Breast Cancer Research and Treatment, 2021

BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.

Lynce F et al.

Journal of Genetic Counseling, 2021

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Millan Catalan O et al.

Cancers, 2019

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.

Torres D et al.

Scientific Reports, 2017

Genomic Disparities in Breast Cancer Among Latinas.

Lynce F et al.

Cancer Control : Journal of the Moffitt Cancer Center, 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

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

Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

Nahleh Z et al.

American Journal of Cancer Research, 2015

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.

Meyer S et al.

Journal of Medical Genetics, 2014

Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

Weitzel JN et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013

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

Karami F et al.

Biomed Research International, 2013

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

Myers K et al.

Pediatric Blood & Cancer, 2012

Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.

de Juan Jiménez I et al.

Familial Cancer, 2012

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.

Gutiérrez-Enríquez S et al.

Breast Cancer Research and Treatment, 2011

Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes.

de Juan Jiménez I et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O et al.

Familial Cancer, 2010

A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family.

Salgado J et al.

Breast Cancer Research and Treatment, 2010

Broad BRCA1 and BRCA2 mutational spectrum and high incidence of recurrent and novel mutations in the eastern Spain population.

Esteban Cardeñosa E et al.

Breast Cancer Research and Treatment, 2010

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A et al.

Human Mutation, 2010

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.

Dewire MD et al.

Pediatric Blood & Cancer, 2009

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

Hall MJ et al.

Cancer, 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

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD et al.

Breast Cancer Research and Treatment, 2008

Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Lee E et al.

Breast Cancer Research : Bcr, 2008

18284688 (PubMed )
Supplement: bcr1865-S3.doc

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

Weitzel JN et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

Velasco E et al.

Electrophoresis, 2005

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.

Esteban-Cardeñosa E et al.

Clinical Chemistry, 2004

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

de Sanjosé S et al.

International Journal of Cancer, 2003

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations.

Duran M et al.

Human Mutation, 2003

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

Llort G et al.

Human Mutation, 2002

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.

de la Hoya M et al.

International Journal of Cancer, 2002

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

Campos B et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2001

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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."