Division of Radiotherapy and Medical Oncology, University Hospital for Tumors, University Hospital Center Sestre Milosrdnice, Zagreb, 10000, Croatia.
Fertility and Procreation Unit, Gynecologic Oncology Program, IEO European Institute of Oncology IRCCS, Milan, 20125, Italy.
Crit Rev Oncol Hematol. 2021 Jan;157:103201. doi: 10.1016/j.critrevonc.2020.103201. Epub 2020 Dec 29.
The detection of germline BRCA1/2 pathogenic variant has relevant implications for the patients and their family members. Family planning, prophylactic surgery and the possibility of preimplantation genetic testing for monogenic disorders (PGT-M) to avoid transmittance of pathogenic variants to the offspring are relevant topics in this setting. PGT-M is valuable option for BRCA carriers, but it remains a controversial and underdiscussed topic. Although the advances in PGT technologies have improved pregnancy rate, there are still several important challenges associated with its use. The purpose of this review is to report the current evidence on PGT-M for BRCA1/2 carriers, ethical concerns and controversy associated with its use, reproductive implications of BRCA pathogenic variants, underlying areas in which an educational effort would be beneficial as well as possibilities for future research efforts in the field.
胚系 BRCA1/2 致病性变异的检测与患者及其家庭成员密切相关。在此背景下，相关主题包括生育规划、预防性手术以及避免将致病性变异传递给后代的单基因疾病的胚胎植入前遗传学检测（PGT-M）的可能性。PGT-M 对于 BRCA 携带者是一个有价值的选择，但它仍然是一个有争议且讨论不足的话题。尽管 PGT 技术的进步提高了妊娠率，但它的使用仍然存在一些重要的挑战。本综述的目的是报告关于 BRCA1/2 携带者 PGT-M 的当前证据、与其使用相关的伦理问题和争议、BRCA 致病性变异的生殖影响、在哪些领域需要进行教育以及该领域未来研究工作的可能性。
