Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases
Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cance...
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| Format: | Online |
| Language: | English |
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Public Library of Science
2012
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3285620/ |
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pubmed-3285620 |
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oai_dc |
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pubmed-32856202012-03-01 Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases Catucci, Irene Colombo, Mara Verderio, Paolo Bernard, Loris Ficarazzi, Filomena Mariette, Frederique Barile, Monica Peissel, Bernard Cattaneo, Elisa Manoukian, Siranoush Radice, Paolo Peterlongo, Paolo Research Article Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer. Very recently, SLX4 has been established as a new FA gene raising the question of its implication in breast cancer risk. This study aimed at answering this question sequencing the entire coding region of SLX4 in 526 familial breast cancer cases from Italy. We found 81 different germline variants and none of these were clearly pathogenic. The statistical power of our sample size allows concluding that in Italy the frequency of carriers of truncating mutations of SLX4 may not exceed 0.6%. Our results indicate that testing for SLX4 germline mutations is unlikely to be relevant for the identification of individuals at risk of breast cancer, at least in the Italian population. Public Library of Science 2012-02-23 /pmc/articles/PMC3285620/ /pubmed/22383991 http://dx.doi.org/10.1371/journal.pone.0031038 Text en Catucci et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Catucci, Irene Colombo, Mara Verderio, Paolo Bernard, Loris Ficarazzi, Filomena Mariette, Frederique Barile, Monica Peissel, Bernard Cattaneo, Elisa Manoukian, Siranoush Radice, Paolo Peterlongo, Paolo |
| spellingShingle |
Catucci, Irene Colombo, Mara Verderio, Paolo Bernard, Loris Ficarazzi, Filomena Mariette, Frederique Barile, Monica Peissel, Bernard Cattaneo, Elisa Manoukian, Siranoush Radice, Paolo Peterlongo, Paolo Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| author_facet |
Catucci, Irene Colombo, Mara Verderio, Paolo Bernard, Loris Ficarazzi, Filomena Mariette, Frederique Barile, Monica Peissel, Bernard Cattaneo, Elisa Manoukian, Siranoush Radice, Paolo Peterlongo, Paolo |
| author_sort |
Catucci, Irene |
| title |
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| title_short |
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| title_full |
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| title_fullStr |
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| title_full_unstemmed |
Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases |
| title_sort |
sequencing analysis of slx4/fancp gene in italian familial breast cancer cases |
| description |
Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer. Very recently, SLX4 has been established as a new FA gene raising the question of its implication in breast cancer risk. This study aimed at answering this question sequencing the entire coding region of SLX4 in 526 familial breast cancer cases from Italy. We found 81 different germline variants and none of these were clearly pathogenic. The statistical power of our sample size allows concluding that in Italy the frequency of carriers of truncating mutations of SLX4 may not exceed 0.6%. Our results indicate that testing for SLX4 germline mutations is unlikely to be relevant for the identification of individuals at risk of breast cancer, at least in the Italian population. |
| publisher |
Public Library of Science |
| publishDate |
2012 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3285620/ |
| _version_ |
1611508063377817600 |