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Your search keyword '"Singlepoint LOD score"' showing total 3 results
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3 results on '"Singlepoint LOD score"'

1. A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer.

Author

Rosa-Rosa, Juan, Pita, Guillermo, González-Neira, Anna, Milne, Roger, Fernandez, Victoria, Ruivenkamp, Claudia, Asperen, Christi, Devilee, Peter, and Benitez, Javier

Abstract

Familial breast cancer represents up to 5% of all breast cancer cases. Recently, our group has performed a new SNP-based linkage study in 19 non-BRCA1/2 families. We found that a single family was linked to regions in two different chromosomes (11q13 and 14q21), and observed a non-parametric LOD score of 11.5 in both regions. In the present study, we ruled out any possible translocation between the chromosomes. We also used both a panel of STRs and an indirect approach based on HapMap data to narrow down these regions from 28 to 7 Mb in chromosome 11 and from 14.5 to 8.5 Mb in chromosome 14. We performed a mutational screening on candidate genes in 11q13 ( NUMA1, FGF3, CCND1, RAD9A, RNF121, FADD and hsa-mir-192), and on FOXA1 in 14q21. Although we have not found any deleterious mutations in the coding region of these genes, data from STR markers confirm 11q13 as a candidate region to contain a breast cancer susceptibility gene. [ABSTRACT FROM AUTHOR]

Published
2010
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3. A 7 Mb region within 11q13 may contain a high penetrance gene for breast cancer

Author

Javier Benitez, Christi J. van Asperen, Peter Devilee, Roger L. Milne, Victoria Fernández, Claudia A. L. Ruivenkamp, Juan Manuel Rosa-Rosa, Guillermo Pita, Anna González-Neira, Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Center (CNIO), Genotyping Unit (CeGen), Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Department of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC), Department of Clinical Genetics, Department of Genetic Epidemiology, Centro de Investigaciones de Enfermedades Raras (CIBERER), and CIBER de Enfermedades Raras (CIBERER)

Subjects
Cancer Research, Candidate gene, Chromosomal translocation, Breast Neoplasms, Penetrance, Biology, Polymorphism, Single Nucleotide, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, medicine, Haplotype, Coding region, Humans, Genetic Predisposition to Disease, Alleles, In Situ Hybridization, Fluorescence, 030304 developmental biology, Linkage study, Genetics, Chromosomes, Human, Pair 14, 0303 health sciences, Chromosomes, Human, Pair 11, Cancer, Singlepoint LOD score, Sequence Analysis, DNA, medicine.disease, 3. Good health, Pedigree, Oncology, Haplotypes, 030220 oncology & carcinogenesis, Female, Breast disease, Lod Score, Genes, Neoplasm, Microsatellite Repeats
Abstract

Familial breast cancer represents up to 5% of all breast cancer cases. Recently, our group has performed a new SNP-based linkage study in 19 non-BRCA1/2 families. We found that a single family was linked to regions in two different chromosomes (11q13 and 14q21), and observed a non-parametric LOD score of 11.5 in both regions. In the present study, we ruled out any possible translocation between the chromosomes. We also used both a panel of STRs and an indirect approach based on HapMap data to narrow down these regions from 28 to 7 Mb in chromosome 11 and from 14.5 to 8.5 Mb in chromosome 14. We performed a mutational screening on candidate genes in 11q13 (NUMA1, FGF3, CCND1, RAD9A, RNF121, FADD and hsa-mir-192), and on FOXA1 in 14q21. Although we have not found any deleterious mutations in the coding region of these genes, data from STR markers confirm 11q13 as a candidate region to contain a breast cancer susceptibility gene.

Published
2008
Full Text
View/download PDF

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