ArticleAmerican journal of human genetics2009
Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- Refining the genetic risk of breast cancer with rare haplotypes and pattern mining.Life science alliance · 2023Article
- Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka.BMC research notes · 2022Article
- The Prognostic Value of the Expression ofDisease markers · 2019Article
- Article
- Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.Biological research · 2017Review
- RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families.BMC medical genomics · 2014Article
- Hereditary breast cancer: clinical, pathological and molecular characteristics.Breast cancer : basic and clinical research · 2014Review
- The complex genetic landscape of familial breast cancer.Human genetics · 2013Review
- Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies.BMC medical genetics · 2013Article
- Article
- The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.BMC cancer · 2012Article
- Review
- Cancer evolution and individual susceptibility.Integrative biology : quantitative biosciences from nano to macro · 2011Review
- Breast cancer predisposition and brain hemispheric laterality specification likely share a common genetic cause.Breast disease · 2011Article
- [Genes beyond BRCA1 and BRCA2 for hereditary breast cancer].Wiener medizinische Wochenschrift (1946) · 2010Review
- Undetectable and Decreased Expression of KIAA1949 (Phostensin) Encoded on Chromosome 6p21.33 in Human Breast Cancers Revealed by Transcriptome Analysis.Journal of Cancer · 2010Article
- Deep sequencing of target linkage assay-identified regions in familial breast cancer: methods, analysis pipeline and troubleshooting.PloS one · 2010Article
- Beyond genome-wide association studies: genetic heterogeneity and individual predisposition to cancer.Trends in genetics : TIG · 2010Review
- Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families.Breast cancer research : BCR · 2010Article
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Authors and funding
14 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite all the research efforts made during the last few decades, most of the cases of families with breast cancer remain unexplained. Mutations in BRCA1 and BRCA2, and in other breast-cancer-susceptibility genes, account for about 25% of familial breast cancer. Linkage studies have failed to identify other breast-cancer-susceptibility genes. The selection criteria of the families, differences in the population background, or clinical and genetic heterogeneity, among other factors, might determine the power to detect the linkage signal. We have performed a SNP-based linkage scan with a total of 6000 SNP markers across the genome in 41 breast-cancer Spanish families, with an average of four breast-cancer cases per family not associated with BRCA1 or BRCA2 germline mutations. In addition, we have included three BRCA-positive families to test the power in linkage detection from a low-complexity family in which a high-penetrance mutation segregates. We have identified three regions of interest, located on 3q25, 6q24, and 21q22. The two former regions showed a suggestive linkage signal (HLOD scores 3.01 and 2.26, respectively), and the latter region showed a significant linkage signal (HLOD score 3.55). Moreover, we found that a subset of 13 families with bilateral breast cancer presented a HLOD of 3.13 on the 3q25 region. Our results suggest that several variables must be taken into account before performing a linkage study in familial breast cancer because of the high heterogeneity within non-BRCA1/2 families. Phenotypic and geographic homogeneity could be the most important factors.
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