Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations.

Oral squamous cell carcinoma (OSCC) has a poor prognosis and the treatment employed generates significant physical deformity in patients. In recent years, an increase in the incidence of cases of OSCC has been observed in adult patients up to 45 years old in several genetic underrepresented and underserved countries. The increase in OSCC cases in young people is very relevant because it shows that OSCC does not make exceptions and hereditarily must play an important role. This fact has not been associated with an evident biological basis, and a large majority of these patients do not present the classic principal risk factors association. OSCC is the result of accumulation of genetic and epigenetic alterations and this information is still fragmented in the literature, mainly in the young group. Conducting studies with a comprehensive analysis of genetic and epigenetic data is crucial, to provide greater understanding of the underlying biology of OSCC, because this information can be decisive to determine targets for therapeutic treatment. We review the main germline and somatic aspects of genetic and genomic variation in OSCC considering the absence of genomic data from developing countries such as Chile and the rest of Hispano-America.

Cáncer hereditario de mama / Hereditary breast cancer

Hereditary breast cancer accounts for approximately 10 percent of the total breast cancer burden. A significant portion of hereditary cases, 30 percent, is attributed to the inheritance of mutations in the BRCA1 and BRCA2 genes characteristic of hereditary breast and ovarian syndrome. The purpose of this review is to provide the most relevant characteristics of families at high risk for hereditary disease, and to emphasize the fundamental contribution of genetic counseling. The latter provides family and personal risk assessment, thus aiding in decision-making regarding genetic testing, preventive measures, treatment, and implications to family members. The identification of high risk families will allow the appropriate referral to genetic counseling thus facilitating early detection of cancer.

En cáncer de mama, aproximadamente el 10 por ciento de los casos corresponde a síndromes hereditarios. Una porción significante de estos, un 30 por ciento, se atribuye a la herencia de mutaciones en genes BRCA1 y BRCA2 característico del síndrome de cáncer de mama y/u ovario. El propósito de esta revisión es dar a conocer las características más relevantes de las familias con alto riesgo hereditario y destacar el aporte fundamental del asesoramiento genético. Este último, en base a la historia familiar y personal, evalúa el riesgo de desarrollar cáncer para asistir en la toma de decisiones en cuanto a exámenes moleculares, medidas preventivas, manejo médico e implicancias a otros familiares. Identificar las familias de alto riesgo permitirá la derivación oportuna para asesoramiento genético, favoreciendo de esta forma la detección temprana.