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No. de sistema: 000038123

LDR _ _ 00000nab^^22^^^^^za^4500
008 _ _ 181009m20189999xx^^r^p^^^^^^z0^^^a0eng^d
040 _ _ a| ECO
c| ECO
043 _ _ a| n-mx---
044 _ _ a| xx
245 0 0 a| Comprehensive analysis of germline variants in mexican patients with hereditary breast and ovarian cancer susceptibility
520 1 _ a| Hereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels.
533 _ _ a| Reproducción electrónica en formato PDF
538 _ _ a| Adobe Acrobat profesional 6.0 o superior
650 _ 4 a| Síndrome de cáncer de mama y ovario hereditario
650 _ 4 a| Genes
650 _ 4 a| Análisis genético
651 _ 4 a| México
700 1 _ a| Quezada Urban, Rosalía
700 1 _ a| Díaz Velásquez, Clara Estela
e| coaut.
700 1 _ a| Gitler, Rina
e| coaut.
700 1 _ a| Rojo Castillo, María Patricia
e| coaut.
700 1 _ a| Sirota Toporek, Max
e| coaut.
700 1 _ a| Figueroa Morales, Andrea
e| coaut.
700 1 _ a| Moreno García, Oscar
e| coaut.
700 1 _ a| García Esquivel, Lizbeth
e| coaut.
700 1 _ a| Torres Mejía, Gabriela
e| coaut.
700 1 _ a| Dean, Michael
e| coaut.
700 1 _ a| Delgado Enciso, Iván
c| Doctor
e| coaut.
700 1 _ a| Ochoa Díaz López, Héctor
c| Doctor
e| coaut.
700 1 _ a| Rodríguez León, Fernando
e| coaut.
700 1 _ a| Jan, Virginia
e| coaut.
700 1 _ a| Garzón Barrientos, Víctor Hugo
e| coaut.
700 1 _ a| Ruiz Flores, Pablo
e| coaut.
700 1 _ a| Espino Silva, Perla Karina
e| coaut.
700 1 _ a| Haro Santa Cruz, Jorge
e| coaut.
700 1 _ a| Martínez Gregorio, Héctor
e| coaut.
700 1 _ a| Rojas Jiménez, Ernesto Arturo
e| coaut.
700 1 _ a| Romero Cruz, Luis Enrique
e| coaut.
700 1 _ a| Méndez Catalá, Claudia Fabiola
e| coaut.
700 1 _ a| Álvarez Gómez, Rosa María
e| coaut.
700 1 _ a| Fragoso Ontiveros, Verónica
e| coaut.
700 1 _ a| Herrera Montalvo, Luis Alonso
e| coaut.
700 1 _ a| Romieu, Isabelle
e| coaut.
700 1 _ a| Terrazas Valdés, Luis Ignacio
e| coaut.
700 1 _ a| Chirino López, Yolanda Irasema
e| coaut.
700 1 _ a| Frecha, Cecilia
e| coaut.
700 1 _ a| Oliver, Javier
e| coaut.
700 1 _ a| Perdomo, Sandra
e| coaut.
700 1 _ a| Vaca Paniagua, Felipe
e| coaut.
773 0 _
t| Cancers
g| Vol. 10, no. 361 (Sep. 2018), p. 1-19
x| 2072-6694
856 4 1 u| https://www.mdpi.com/2072-6694/10/10/361
z| Artículo electrónico
856 _ _ u| http://aleph.ecosur.mx:8991/F?func=service&doc_library=CFS01&local_base=CFS01&doc_number=000038123&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
y| Artículo electrónico
901 _ _ a| Artículo con arbitraje
902 _ _ a| GOG / MM
904 _ _ a| Octubre 2018
905 _ _ a| Artecosur
905 _ _ a| Giasar
905 _ _ a| Biblioelectrónica
LNG eng
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Inglés

"Hereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels."


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