Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients
Breast cancer (BC) is one of the most frequent cancer types in women worldwide. About 7% is diagnosed in young women (YBC) less than 40 years old. In Mexico, however, YBC reaches 15% suggesting a higher genetic susceptibility. There have been some reports of germline variants in YBC across the world...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/14/7/1647 |
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| author | Liliana Gómez-Flores-Ramos Angélica Leticia Barraza-Arellano Alejandro Mohar Miguel Trujillo-Martínez Lizbeth Grimaldo Rocío Ortiz-Lopez Víctor Treviño |
| author_facet | Liliana Gómez-Flores-Ramos Angélica Leticia Barraza-Arellano Alejandro Mohar Miguel Trujillo-Martínez Lizbeth Grimaldo Rocío Ortiz-Lopez Víctor Treviño |
| author_sort | Liliana Gómez-Flores-Ramos |
| collection | DOAJ |
| description | Breast cancer (BC) is one of the most frequent cancer types in women worldwide. About 7% is diagnosed in young women (YBC) less than 40 years old. In Mexico, however, YBC reaches 15% suggesting a higher genetic susceptibility. There have been some reports of germline variants in YBC across the world. However, there is only one report from a Mexican population, which is not restricted by age and limited to a panel of 143 genes resulting in 15% of patients carrying putatively pathogenic variants. Nevertheless, expanding the analysis to whole exome involves using more complex tools to determine which genes and variants could be pathogenic. We used germline whole exome sequencing combined with the PeCanPie tool to analyze exome variants in 115 YBC patients. Our results showed that we were able to identify 49 high likely pathogenic variants involving 40 genes on 34% of patients. We noted many genes already reported in BC and YBC worldwide, such as <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, <i>PALB2</i>, and <i>POLQ</i>, but also others not commonly reported in YBC in Latin America, such as <i>CLTCL1</i>, <i>DDX3X</i>, <i>ERCC6</i>, <i>FANCE</i>, and <i>NFKBIE</i>. We show further supporting and controversial evidence for some of these genes. We conclude that exome sequencing combined with robust annotation tools and further analysis, can identify more genes and more patients affected by germline mutations in cancer. |
| first_indexed | 2024-03-09T12:04:51Z |
| format | Article |
| id | doaj.art-9056d22c55b1479685b7cf553929995f |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T12:04:51Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-9056d22c55b1479685b7cf553929995f2023-11-30T23:00:02ZengMDPI AGCancers2072-66942022-03-01147164710.3390/cancers14071647Germline Variants in Cancer Genes from Young Breast Cancer Mexican PatientsLiliana Gómez-Flores-Ramos0Angélica Leticia Barraza-Arellano1Alejandro Mohar2Miguel Trujillo-Martínez3Lizbeth Grimaldo4Rocío Ortiz-Lopez5Víctor Treviño6CONACYT/Center for Population Health Research, National Institute of Public Health, Universidad No. 655, Cuernavaca 62100, Morelos, MexicoSchool of Medicine, Tecnologico de Monterrey, Morones Prieto Av 3000, Los Doctores, Monterrey 64710, Nuevo Leon, MexicoUnidad de Investigación Biomédica en Cáncer, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Dirección de Investigación, Instituto Nacional de Cancerología, Av. San Fernando #22, Col. Sección XVI, Delegación Tlalpan, Mexico City 14080, MexicoInstituto Mexicano del Seguro Social, Hospital General de Zona con Medicina Familiar No. 7, Cuautla 62780, Morelos, MexicoCONACYT/Center for Population Health Research, National Institute of Public Health, Universidad No. 655, Cuernavaca 62100, Morelos, MexicoSchool of Medicine, Tecnologico de Monterrey, Morones Prieto Av 3000, Los Doctores, Monterrey 64710, Nuevo Leon, MexicoSchool of Medicine, Tecnologico de Monterrey, Morones Prieto Av 3000, Los Doctores, Monterrey 64710, Nuevo Leon, MexicoBreast cancer (BC) is one of the most frequent cancer types in women worldwide. About 7% is diagnosed in young women (YBC) less than 40 years old. In Mexico, however, YBC reaches 15% suggesting a higher genetic susceptibility. There have been some reports of germline variants in YBC across the world. However, there is only one report from a Mexican population, which is not restricted by age and limited to a panel of 143 genes resulting in 15% of patients carrying putatively pathogenic variants. Nevertheless, expanding the analysis to whole exome involves using more complex tools to determine which genes and variants could be pathogenic. We used germline whole exome sequencing combined with the PeCanPie tool to analyze exome variants in 115 YBC patients. Our results showed that we were able to identify 49 high likely pathogenic variants involving 40 genes on 34% of patients. We noted many genes already reported in BC and YBC worldwide, such as <i>BRCA1</i>, <i>BRCA2</i>, <i>ATM</i>, <i>CHEK2</i>, <i>PALB2</i>, and <i>POLQ</i>, but also others not commonly reported in YBC in Latin America, such as <i>CLTCL1</i>, <i>DDX3X</i>, <i>ERCC6</i>, <i>FANCE</i>, and <i>NFKBIE</i>. We show further supporting and controversial evidence for some of these genes. We conclude that exome sequencing combined with robust annotation tools and further analysis, can identify more genes and more patients affected by germline mutations in cancer.https://www.mdpi.com/2072-6694/14/7/1647breast cancervariant annotationvariant pathogenicitycancer predispositionbioinformatic pipelinecancer genes |
| spellingShingle | Liliana Gómez-Flores-Ramos Angélica Leticia Barraza-Arellano Alejandro Mohar Miguel Trujillo-Martínez Lizbeth Grimaldo Rocío Ortiz-Lopez Víctor Treviño Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients Cancers breast cancer variant annotation variant pathogenicity cancer predisposition bioinformatic pipeline cancer genes |
| title | Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients |
| title_full | Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients |
| title_fullStr | Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients |
| title_full_unstemmed | Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients |
| title_short | Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients |
| title_sort | germline variants in cancer genes from young breast cancer mexican patients |
| topic | breast cancer variant annotation variant pathogenicity cancer predisposition bioinformatic pipeline cancer genes |
| url | https://www.mdpi.com/2072-6694/14/7/1647 |
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