RESUMEN
Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations.
Asunto(s)
Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Enzimas Reparadoras del ADN/genética , Proteínas de Unión al ADN/genética , Hispánicos o Latinos/genética , Mutación , Adulto , Neoplasias Colorrectales Hereditarias sin Poliposis/etnología , Reparación de la Incompatibilidad de ADN , Femenino , Técnicas de Genotipaje , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
OBJECTIVE: To assess the frequency of vitamin D deficiency among men with prostate cancer, as considerable epidemiological, in vitro, in vivo and clinical data support an association between vitamin D deficiency and prostate cancer outcome. PATIENTS, SUBJECTS AND METHODS: The study included 120 ambulatory men with recurrent prostate cancer and 50 with clinically localized prostate cancer who were evaluated and serum samples assayed for 25-OH vitamin D levels. Then 100 controls (both sexes), matched for age and season of serum sample, were chosen from a prospective serum banking protocol. The relationship between age, body mass index, disease stage, Eastern Cooperative Oncology Group performance status, season and previous therapy on vitamin D status were evaluated using univariate and multivariate analyses. RESULTS: The mean 25-OH vitamin D level was 25.9 ng/mL in those with recurrent disease, 27.5 ng/mL in men with clinically localized prostate cancer and 24.5 ng/mL in controls. The frequency of vitamin D deficiency (<20 ng/mL) and insufficiency (20-31 ng/mL) was 40% and 32% in men with recurrent prostate; 28% had vitamin D levels that were normal (32-100 ng/mL). Among men with localized prostate cancer, 18% were deficient, 50% were insufficient and 32% were normal. Among controls, 31% were deficient, 40% were insufficient and 29% were normal. Metastatic disease (P = 0.005) and season of blood sampling (winter/spring; P = 0.01) were associated with vitamin D deficiency in patients with prostate cancer, while age, race, performance status and body mass index were not. CONCLUSIONS: Vitamin D deficiency and insufficiency were common among men with prostate cancer and apparently normal controls in the western New York region.
Asunto(s)
Neoplasias de la Próstata/complicaciones , Deficiencia de Vitamina D/etiología , Anciano , Anciano de 80 o más Años , Índice de Masa Corporal , Estudios de Casos y Controles , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias de la Próstata/sangre , Vitamina D/sangre , Deficiencia de Vitamina D/sangreRESUMEN
BACKGROUND: Preclinical and clinical evidence support an association between vitamin D deficiency and an increased risk of colorectal cancer. Normal vitamin D status has been linked to favorable health outcomes ranging from decreased risk of osteoporosis to improved cancer mortality. We performed a retrospective study to assess the impact of metastatic disease and chemotherapy treatment on vitamin D status in patients with colorectal cancer residing in Western New York. MATERIALS AND METHODS: Patients, 315, with colorectal cancer treated in a single institute were assayed for 25-OH vitamin D. The association of age, gender, primary disease site and stage, body mass index, and chemotherapy with vitamin D status was investigated. RESULTS: Vitamin D deficiency was common among participants with a median 25-OH vitamin D level of 21.3 ng/ml (optimal range 32-100 ng/ml). Primary site of disease and chemotherapy status were associated with very low 25-OH vitamin D levels (< or =15 ng/ml) on multivariate analysis. Patients receiving chemotherapy and patients with a rectal primary were 3.7 and 2.6-fold more likely to have severe vitamin D deficiency on multivariate analysis than nonchemotherapy patients and colon cancer primary patients, respectively. CONCLUSIONS: Chemotherapy is associated with a significant increase in the risk of severe vitamin D deficiency. Patients with colorectal cancer, especially those receiving chemotherapy, should be considered for aggressive vitamin D replacement strategies.
Asunto(s)
Neoplasias Colorrectales/complicaciones , Neoplasias Colorrectales/tratamiento farmacológico , Deficiencia de Vitamina D/etiología , Adulto , Anciano , Anciano de 80 o más Años , Demografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Vitamina D/metabolismoRESUMEN
A family history of certain malignancies, especially breast, ovarian, colorectal, and prostate cancers, can place persons at increased risk of developing these cancers. By constructing a pedigree that includes 3 generations, family physicians can identify patients at increased risk because of family cancer history. Persons at increased cancer risk because of family history warrant a surveillance strategy for early detection. Genetic professionals represent an important resource in assessing genetic risk and possible testing. Persons identified as being at increased risk of various cancers based on their family history should understand the surveillance plan that is recommended and the importance of maintaining a healthy lifestyle and remaining up to date on other cancer screening tests.
Asunto(s)
Predisposición Genética a la Enfermedad , Tamizaje Masivo/métodos , Neoplasias/diagnóstico , Estudios Epidemiológicos , Humanos , Neoplasias/epidemiología , Neoplasias/genética , Medición de Riesgo , Factores de RiesgoRESUMEN
Cancer survivors are at increased risk for recurrence of their original malignancy; development of second primary malignancies; and medical, developmental, and psychologic problems resulting from cancer therapy, genetic predisposition to cancer, and other risk factors. Surveillance following curative cancer treatment generally includes interval history and physical examinations every six months for five years. Thereafter, histories and examinations are recommended annually for breast cancer; every three months for two years, then every six months for three to five years for colorectal cancer; and every six months for five years, then annually for prostate cancer. Recommended laboratory tests and ancillary procedures include annual mammography of preserved breast tissue in breast cancer survivors, carcinoembryonic antigen level monitoring in conjunction with annual colonoscopy in colorectal cancer patients, and prostate-specific antigen measurements every six months for five years and then annually in prostate cancer survivors. In addition, family physicians should be attentive to concerns about altered body image or sexuality issues following curative surgical procedures. Continued emphasis on preventive health practices is encouraged. Physicians should remain alert to nonspecific symptoms or physical findings (e.g., mass, adenopathy) that can indicate cancer recurrence. In childhood cancer survivors, periodic evaluation that includes a plan for surveillance and prevention, incorporating risks based on previous cancer, therapy, genetic predispositions, personal behaviors, and comorbid health conditions, is recommended.