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Familial Cancer

Published in:

01-09-2010

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

Authors: E. Beristain, I. Guerra, N. Vidaurrazaga, J. Burgos-Bretones, M. I. Tejada

Published in: Familial Cancer | Issue 3/2010

Excerpt

Dear editor, …

Dworkin AM, Spearman AD, Stephanie YT et al. (2009) Methylation not a frequent “second hit” in tumors with germline BRCA mutations. Fam Cancer doi:10.1007/s10689-009-9240-1 (in press)

Osorio A, de la Hoya M, Rodriguez-Lopez R et al (2002) Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. Int J Cancer 99:305–309CrossRefPubMed

Chenevix-Trench G, Healey S, Lakhani S et al (2006) Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 66:2019–2027CrossRefPubMed

Osorio A, Milne RL, Honrado E et al (2007) Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information. Hum Mutat 28:477–485CrossRefPubMed

Beristain E, Martínez-Bouzas C, Guerra I et al (2007) Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counseling. Breast Cancer Res Treat 106(2):255–262CrossRefPubMed

Beristain E, Martínez-Bouzas C, Mallabiabarrena G et al (2009) Is early onset breast cancer with no family history a good criterion for testing BRCA1 and BRCA2 genes?: a small population-based study. Clin Genet 75(6):576–578CrossRefPubMed

Human Genome Variation Society (HGVS): http://www.hgvs.org

Breast Cancer Information Core (BIC): http://www.research.nhgri.nih.gov/bic/

Spurdle AB, Lakhani SR, Healey S et al (2008) Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis—a report from the kConFab Investigators. J Clin Oncol 26(10):1657–1663CrossRefPubMed

Title: LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not
Authors: E. Beristain
I. Guerra
N. Vidaurrazaga
J. Burgos-Bretones
M. I. Tejada
Publication date: 01-09-2010
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 3/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9318-9

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