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Germline DNA copy number variation in familial and early-onset breast cancer
INTRODUCTION: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblas...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496142/ https://www.ncbi.nlm.nih.gov/pubmed/22314128 http://dx.doi.org/10.1186/bcr3109 |
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author | Krepischi, Ana CV Achatz, Maria Isabel W Santos, Erika MM Costa, Silvia S Lisboa, Bianca CG Brentani, Helena Santos, Tiago M Gonçalves, Amanda Nóbrega, Amanda F Pearson, Peter L Vianna-Morgante, Angela M Carraro, Dirce M Brentani, Ricardo R Rosenberg, Carla |
author_facet | Krepischi, Ana CV Achatz, Maria Isabel W Santos, Erika MM Costa, Silvia S Lisboa, Bianca CG Brentani, Helena Santos, Tiago M Gonçalves, Amanda Nóbrega, Amanda F Pearson, Peter L Vianna-Morgante, Angela M Carraro, Dirce M Brentani, Ricardo R Rosenberg, Carla |
author_sort | Krepischi, Ana CV |
collection | PubMed |
description | INTRODUCTION: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease." METHODS: Using whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations. RESULTS: The median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer. CONCLUSIONS: This study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples. |
format | Online Article Text |
id | pubmed-3496142 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-34961422012-11-14 Germline DNA copy number variation in familial and early-onset breast cancer Krepischi, Ana CV Achatz, Maria Isabel W Santos, Erika MM Costa, Silvia S Lisboa, Bianca CG Brentani, Helena Santos, Tiago M Gonçalves, Amanda Nóbrega, Amanda F Pearson, Peter L Vianna-Morgante, Angela M Carraro, Dirce M Brentani, Ricardo R Rosenberg, Carla Breast Cancer Res Research Article INTRODUCTION: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease." METHODS: Using whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations. RESULTS: The median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer. CONCLUSIONS: This study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples. BioMed Central 2012 2012-02-07 /pmc/articles/PMC3496142/ /pubmed/22314128 http://dx.doi.org/10.1186/bcr3109 Text en Copyright ©2012 Krepischi et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Krepischi, Ana CV Achatz, Maria Isabel W Santos, Erika MM Costa, Silvia S Lisboa, Bianca CG Brentani, Helena Santos, Tiago M Gonçalves, Amanda Nóbrega, Amanda F Pearson, Peter L Vianna-Morgante, Angela M Carraro, Dirce M Brentani, Ricardo R Rosenberg, Carla Germline DNA copy number variation in familial and early-onset breast cancer |
title | Germline DNA copy number variation in familial and early-onset breast cancer |
title_full | Germline DNA copy number variation in familial and early-onset breast cancer |
title_fullStr | Germline DNA copy number variation in familial and early-onset breast cancer |
title_full_unstemmed | Germline DNA copy number variation in familial and early-onset breast cancer |
title_short | Germline DNA copy number variation in familial and early-onset breast cancer |
title_sort | germline dna copy number variation in familial and early-onset breast cancer |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496142/ https://www.ncbi.nlm.nih.gov/pubmed/22314128 http://dx.doi.org/10.1186/bcr3109 |
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