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Abstract(s)
O cancro da mama é o cancro mais frequente em mulheres. Do total de casos de cancro da
mama, 10 a 15% são hereditários, isto é, são causados por mutações em genes de
suscetibilidade que aumentam o risco de surgimento da doença. Essas mutações podem
ocorrer em vários genes, cada um deles associado a riscos diferentes de desenvolvimento da
patologia. No cancro hereditário da mama, os genes mais frequentemente alterados são o
BRCA1 e o BRCA2, estando as mutações destes genes associadas a um risco de
desenvolvimento de cancro da mama durante a vida entre 70 e 85%. Os indivíduos com cancro
hereditário, bem como os seus familiares, deverão ter um acompanhamento clínico distinto
do recomendado nos casos de cancro esporádico. É já hoje possível identificar, com base na
história pessoal e familiar, e com o auxílio de modelos de avaliação de risco recentes, os
indivíduos com formas provavelmente hereditárias de cancro da mama, com eventual
indicação para estudos genéticos. Uma vez identificada uma alteração genética patogénica
num doente, poderão ser realizados estudos genéticos preditivos nos familiares em risco.
Todo este processo traz grandes vantagens, uma vez que permite delinear, para os indivíduos
geneticamente predispostos, uma estratégia personalizada de redução de risco que inclua
uma vigilância mais intensiva e/ou cirurgia redutora de risco ou quimioprevenção.
Este trabalho faz uma revisão bibliográfica sobre os principais aspetos do cancro da mama
hereditário, com ênfase na epidemiologia, patologia, critérios de recrutamento para estudo
genético e atitudes face aos resultados do mesmo.
Breast cancer is the most frequent type of cancer in women. Of all breast cancer cases, 10 to 15% are hereditary. This means that they are caused by mutations in susceptibility genes which increase the risk of developing the disease. These mutations can occur in different genes, each of them associated with different risks of development of breast cancer. In hereditary breast cancer, the most frequently mutated genes are BRCA1 and BRCA2. Pathogenic mutations in BRCA1 or BRCA2 are associated with an estimated lifetime risk of breast cancer of 70 to 80%. Individuals with hereditary cancer, as well as their relatives, should have a distinct clinical guidance from the one recommended in sporadic cancer cases. It is now possible to identify individuals with probable hereditary breast cancer forms, based on their personal and family history and with the help of recent informatic tools of evaluation of risk, and if justified of with specific genetic studies. Once identified a pathogenic mutation in a relevant cancer susceptibility gene in a patient, predictive genetic studies may be carried out in at risk relatives. These procedures allow the identification of genetically predisposed individuals, thereby enabling the adoption of a personalised strategy of risk reduction, which can include more intensive screening, risk reduction surgery, chemoprevention or a combination of the aforementioned procedures. This work makes a bibliographical review focussed on the main aspects of hereditary breast cancer, with emphasis on epidemiology, pathology, recruitment criteria for genetic studies and implications thereof.
Breast cancer is the most frequent type of cancer in women. Of all breast cancer cases, 10 to 15% are hereditary. This means that they are caused by mutations in susceptibility genes which increase the risk of developing the disease. These mutations can occur in different genes, each of them associated with different risks of development of breast cancer. In hereditary breast cancer, the most frequently mutated genes are BRCA1 and BRCA2. Pathogenic mutations in BRCA1 or BRCA2 are associated with an estimated lifetime risk of breast cancer of 70 to 80%. Individuals with hereditary cancer, as well as their relatives, should have a distinct clinical guidance from the one recommended in sporadic cancer cases. It is now possible to identify individuals with probable hereditary breast cancer forms, based on their personal and family history and with the help of recent informatic tools of evaluation of risk, and if justified of with specific genetic studies. Once identified a pathogenic mutation in a relevant cancer susceptibility gene in a patient, predictive genetic studies may be carried out in at risk relatives. These procedures allow the identification of genetically predisposed individuals, thereby enabling the adoption of a personalised strategy of risk reduction, which can include more intensive screening, risk reduction surgery, chemoprevention or a combination of the aforementioned procedures. This work makes a bibliographical review focussed on the main aspects of hereditary breast cancer, with emphasis on epidemiology, pathology, recruitment criteria for genetic studies and implications thereof.
Description
Keywords
Cancro da Mama Diagnóstico Genes Hereditariedade Prevenção