Browsing by Author "Lagos, Marcela"

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    Early detection of cervical cancer in Chile: time for change
    (SOC MEDICA SANTIAGO, 2014) Leniz Martelli, Javiera; Van De Wyngard, Vanessa; Lagos, Marcela; Isabel Barriga, Maria; Puschel Illanes, Klaus; Ferreccio Readi, Catterina
    Mortality rates for cervical cancer (CC) in Chile are higher than those of developed countries and it has an unequal socioeconomic distribution. The recognition of human papilloma virus (HPV) as the causal agent of cervical cancer in the early 80's changed the prevention paradigms. Current goals are to prevent HPV infection by vaccination before the onset of sexual activity and to detect HPV infection in women older than 30 years. This article reviews CC prevention and early detection methods, discusses relevant evidence to support a change in Chile and presents an innovation proposal. A strategy of primary screening based on HPV detection followed by triage of HPV-positive women by colposcopy in primary care or by cytological or molecular reflex testing is proposed. Due to the existence in Chile of a well-organized nationwide CC prevention program, the replacement of a low-sensitivity screening test such as the Papanicolau test with a highly sensitive one such as HPV detection, could quickly improve the effectiveness of the program. The program also has a network of personnel qualified to conduct naked-eye inspections of the cervix, who could easily be trained to perform triage colposcopy. The incorporation of new prevention strategies could reduce the deaths of Chilean women and correct inequities.
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    Examen de detección de virus papiloma humano en el tamizaje de cáncer cervicouterino en un Servicio de Salud de Santiago, Chile
    (2015) Terrazas, Solana; Ibáñez Cáceres, Carolina; Lagos, Marcela; Poggi, Helena; Brañes, Jorge; Barriga Cosmelli, María Isabel; Cartagena, Jaime; Núñez, Felipe; González, Francisca; Cook, María Paz; Van De Wyngard, Vanesa; Ferreccio Readi, Catterina; Terrazas, Solana; Ibáñez Cáceres, Carolina; Lagos, Marcela; Poggi, Helena; Brañes, Jorge; Barriga, María I.; Cartagena, Jaime; Núñez, Felipe; González, Francisca; Cook, María Paz; Van De Wyngard, Vanesa; Ferreccio Readi, Catterina
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    HLA-B*5701 frequency in Chilean HIV-infected patients and in general population
    (CONTEXTO, 2010) Poggi, Helena; Vera, Alejandra; Lagos, Marcela; Solari, Sandra; Rodriguez P, Luis; Perez, Carlos M.
    It has been demonstrated that HLA-B*5701 screening reduces the risk for hypersensitivity reaction to abacavir in HIV-infected patients. Since B*5701 prevalence varies among different populations, it is important to determine the carrier frequency prior to its use for the screening of HIV-infected patients. The aim of this study was to determine HLA-B*5701 carrier frequency in Chilean general population and HIV-infected patients referred for B*5701 typing. For that purpose 300 blood bank donors and 492 abacavir-naive HIV-infected patients from Chile were screened for B*5701 by a sequence specific primer PCR. We detected 14/300 (4.7%) B*57-positive individuals in the Chilean general population, 11 (3.7%) were B*5701 positive, and 3 (1%) had another subtype. All were heterozygous, thus a B*5701 allele frequency of 2% was determined. Eleven of 492 (2.2 %) HIV-patients carried a B*5701 allele. The difference between these frequencies is probably due to slow progression of HIV infection in HLA-B*5701 carriers, thus less patients would require antiretroviral therapy and B*5701 typing. Considering the usefulness of B*5701 screening, its prevalence in the Chilean general population, and the availability of a validated method, we conclude that HLA-B*5701 typing in Chilean HIV-infected patients about to initiate abacavir treatment is strongly recommended.
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    Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer
    (2019) Norero Muñoz, Enrique Eduardo; Alarcón Alarcón, María Alejandra; Hakkaart, Cristopher; de Mayo, Tomás; Mellado Sagredo, Cecilia Ximena; Garrido Salvo, Marcelo Adán; Aguayo Bonniard, Gloria Alejandra; Lagos, Marcela; Torres, Javiera; Calvo, Alfonso; Guilford, Parry; Corvalan, Alejandro H
    Germline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a country with one of the highest incidence and mortality rates in the world for gastric cancer (GC). Here, we prospectively include probands with family history/early onset of diffuse-type of GC. The whole coding sequence of the CDH1 gene was sequenced from genomic DNA in all patients, and a multidisciplinary team managed each family member with a pathogenic sequence variant. Thirty-six cases were included (median age 44 years/male 50%). Twenty-seven (75%) patients had diffuse-type GC at <= 50 years of age and 19 (53%) had first or second-degree family members with a history of HDGC. Two cases (5.5%) carried a non-synonymous germline sequence variant in the CDH1 gene: (a) The c.88C>A missense variant was found in a family with three diffuse-type GC cases; and (b) c.1531C>T a nonsense pathogenic variant was identified in a 22-year-old proband with no previous family history of HDGC. Of note, six family members carry the same nonsense pathogenic variant. Prophylactic gastrectomy in the proband's sister revealed stage I signet-ring cell carcinoma. The finding of 1531C>T pathogenic variant in the CDH1 in proband with no previous family history of HDGC warrants further study to uncover familial clustering of disease in CDH1 negative patients. This finding may be particularly relevant in high incidence countries, such as the case in this report.