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

Familial Cancer

Volumn 9, Issue 3, 2010, Pages 289-290

  Beristain, E ^a   Guerra, I ^b   Vidaurrazaga, N ^a   Burgos Bretones, J ^a   Tejada, M I ^a  

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL TXAGORRITXU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; COMPLEMENTARY DNA; DNA;

BREAST CANCER; CANCER PATIENT; CANCER TISSUE; DNA EXTRACTION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTRON; LETTER; OVARY CANCER; PATHOGENESIS; PRIORITY JOURNAL; RNA SPLICING; WILD TYPE;

BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF HETEROZYGOSITY; OVARIAN NEOPLASMS;

EID: 78650188589     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-009-9318-9     Document Type: Letter

References (9)

1. 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)
2. 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 99:305-309
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5. 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):255-262
6. 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):576-578
7. Human Genome Variation Society (HGVS): http://www.hgvs.org
8. Breast Cancer Information Core (BIC): http://www.research. nhgri.nih.gov/bic/
9. 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):1657-1663