Please use this identifier to cite or link to this item: http://hdl.handle.net/10316/89520
Title: BRCA MUTATIONS: REPRODUCTIVE POTENCIAL OF CARRIERS
Other Titles: MUTAÇÕES BRCA: POTENCIAL REPRODUTIVO DE MULHERES PORTADORAS
Authors: Silva, José Pedro Barbado
Orientador: Ferreira, Ana Filipa Rodrigues
Santos, Ana Teresa Moreira Almeida
Keywords: FERTILIDADE; BRCA1; BRCA2; BRCA; FERTILITY; BRCA1; BRCA2; BRCA
Issue Date: 24-May-2019
Serial title, monograph or event: BRCA MUTATIONS: REPRODUCTIVE POTENCIAL OF CARRIERS
Place of publication or event: Não Aplicável
Abstract: OS genes BRCA1 e BRCA2 são genes supressores tumorais que codificam proteínas vitais para a integridade genómica. Mutações germline são a causa conhecida mais relevante de susceptibilidade hereditária para o cancro ovárico e da mama. A descoberta da mutação patológica BRCA originou um processo difícil de decisão por parte dos doentes, com múltiplas opções a tomar. Considerando a possibilidade de resultados permanentes que poderão afetar drásticamente a qualidade de vida do doente, o aconselhamento dos doentes portadores de BRCA tem que integrar o conhecimento mais atual na sua prática. Uma das principais preocupações é o plano individual de formação familiar.Esta revisão propõe-se a contribuir para clarificar a possível associação entre mutações BRCA e potencial reprodutivo. .
BRCA1 and BRCA2 genes are tumour suppressor genes encoding proteins vital to the maintenance of genomic integrity. Germline mutations in these genes are the most relevant known causes of inherited susceptibility to breast and ovarian cancers, and also, to a minor degree, other forms of cancer. The disclosure of a BRCA pathological mutation leads to a difficult decision-making progress on the patient's behalf as they are given multiple options regarding both screening and therapeutic approach. Considering the possible life-changing and permanent results from these decisions, the counselling of BRCA carriers must integrate the most current knowledge in its practice. When facing this process, one main concern of these women is their individual family formation plan, thus the importance of providing specific information having in account their BRCA status.This review aims to contribute to clarifying the possible association between BRCA1/BRCA2 pathological variant carrier status and the modification in the reproductive potential through the evaluation of the impact of such mutations on ovarian reserve, gravidity and parity, and menopause onset age.A literature search was conducted on the databases PUBMED, Up-To-Date and Cochrane Library, using combinations of the Mesh Terms and keywords “fertility” and “BRCA1 gene” or “BRCA2 gene” or “BRCA”, selecting relevant articles published over the last decade.The available clinical data on this matter has presented conflicting results, although there is a trend supporting the consideration of fertility impairment as an additional consequence and outcome of BRCA mutations, bringing up the need to include fertility preservation strategies in the management of these patients.
Description: Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina
URI: http://hdl.handle.net/10316/89520
Rights: openAccess
Appears in Collections:UC - Dissertações de Mestrado

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