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Ana Cv Krepischi - One of the best experts on this subject based on the ideXlab platform.

  • Germline DNA copy number Variation in familial and early-onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Erika Mm Santos, Silvia S Costa, Bianca Cg Lisboa, Helena Brentani, Tiago M Santos, Amanda Gonçalves, Amanda F Nóbrega, Peter L Pearson
    Abstract:

    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.

  • germline dna copy number Variation in familial and early onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Silvia S Costa, Helena Brentani, Tiago M Santos, Erika Maria Monteiro Santos, Bianca Lisboa, Amanda Gonçalves
    Abstract:

    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." 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. 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. 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.

Amanda Gonçalves - One of the best experts on this subject based on the ideXlab platform.

  • Germline DNA copy number Variation in familial and early-onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Erika Mm Santos, Silvia S Costa, Bianca Cg Lisboa, Helena Brentani, Tiago M Santos, Amanda Gonçalves, Amanda F Nóbrega, Peter L Pearson
    Abstract:

    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.

  • germline dna copy number Variation in familial and early onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Silvia S Costa, Helena Brentani, Tiago M Santos, Erika Maria Monteiro Santos, Bianca Lisboa, Amanda Gonçalves
    Abstract:

    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." 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. 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. 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.

Maria Isabel W Achatz - One of the best experts on this subject based on the ideXlab platform.

  • Germline DNA copy number Variation in familial and early-onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Erika Mm Santos, Silvia S Costa, Bianca Cg Lisboa, Helena Brentani, Tiago M Santos, Amanda Gonçalves, Amanda F Nóbrega, Peter L Pearson
    Abstract:

    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.

  • germline dna copy number Variation in familial and early onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Silvia S Costa, Helena Brentani, Tiago M Santos, Erika Maria Monteiro Santos, Bianca Lisboa, Amanda Gonçalves
    Abstract:

    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." 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. 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. 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.

James R Priest - One of the best experts on this subject based on the ideXlab platform.

  • phenome wide burden of copy number Variation in the uk biobank
    American Journal of Human Genetics, 2019
    Co-Authors: Matthew Aguirre, Manuel A Rivas, James R Priest
    Abstract:

    Copy-Number Variations (CNVs) represent a significant proportion of the genetic differences between individuals and many CNVs associate causally with syndromic disease and clinical outcomes. Here, we characterize the landscape of Copy-Number Variation and their phenome-wide effects in a sample of 472,228 array-genotyped individuals from the UK Biobank. In addition to population-level selection effects against genic loci conferring high mortality, we describe genetic burden from potentially pathogenic and previously uncharacterized CNV loci across more than 3,000 quantitative and dichotomous traits, with separate analyses for common and rare classes of Variation. Specifically, we highlight the effects of CNVs at two well-known syndromic loci 16p11.2 and 22q11.2, previously uncharacterized Variation at 9p23, and several genic associations in the context of acute coronary artery disease and high body mass index. Our data constitute a deeply contextualized portrait of population-wide burden of Copy-Number Variation, as well as a series of dosage-mediated genic associations across the medical phenome.

  • phenome wide burden of copy number Variation in uk biobank
    bioRxiv, 2019
    Co-Authors: Matthew Aguirre, Manuel A Rivas, James R Priest
    Abstract:

    Abstract Copy number Variations (CNV) represent a significant proportion of the genetic differences between individuals and many CNVs associate causally with syndromic disease and clinical outcomes. Here, we characterize the landscape of copy number Variation and their phenome-wide effects in a sample of 472,228 array-genotyped individuals from the UK Biobank. In addition to population-level selection effects against genic loci conferring high-mortality, we describe genetic burden from syndromic and previously uncharacterized CNV loci across nearly 2,000 quantitative and dichotomous traits, with separate analyses for common and rare classes of Variation. Specifically, we highlight the effects of CNVs at two well-known syndromic loci 16p11.2 and 22q11.2, as well as novel associations at 9p23, in the context of acute coronary artery disease and high body mass index. Our data constitute a deeply contextualized portrait of population-wide burden of copy number Variation, as well as a series of known and novel dosage-mediated genic associations across the medical phenome.

Peter L Pearson - One of the best experts on this subject based on the ideXlab platform.

  • Germline DNA copy number Variation in familial and early-onset breast cancer
    Breast Cancer Research, 2012
    Co-Authors: Ana Cv Krepischi, Maria Isabel W Achatz, Erika Mm Santos, Silvia S Costa, Bianca Cg Lisboa, Helena Brentani, Tiago M Santos, Amanda Gonçalves, Amanda F Nóbrega, Peter L Pearson
    Abstract:

    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.