Combined PGT for Breast Cancer and Other Inherited Conditions

Svetlana Rechitsky,Maria Prokhorovich,Anver Kuliev,Tatiana Pakhalchuk

doi:10.31579/2578-8965/112

Abstract

Inherited cancer predisposition is presently one of the major indications for preimplantation genetic testing (PGT), providing an option for couplers at risk to avoid the birth of an offspring with predisposition to cancer. We present here our experience of 35 of 874 PGT cycles for cancer, in which in addition to BRCA1/2 the couples were at risk to another genetic conditions as well, for which PGT was performed together with PGT for breast cancer. This resulted in in birth of 20 mutation free children with not only unaffected for the tested genetic condition, but also without risk of developing cancer. This is a part of our overall PGT series of 6,204 PGT cases for monogenic disorders (PGT-M), with 2,517 resulting births, free of genetic disorder. The accumulated experience, demonstrates considerable progress in using PGT for avoiding the birth of affected children together with avoiding predisposition to cancer.

Highlights

Preimplantation genetic testing (PGT) was shown to be an attractive option for couples at risk, allowing to avoid the inheritance of cancer predisposing genes to their offspring [1,2,3,4,5,6]
As there is no sufficient progress in developing effective approaches to prevent the development of cancer in carries of cancer predisposing mutations, the number of referrals for preimplantation genetic testing (PGT) of cancer has increased significantly during the last few years, especially after introduction of an expanding carrier screening, which picks up genetic risk for having an affected child caused by additional monogenic disorders
This paper will describe our experience of PGT for breast cancer predisposition, which was performed together with testing for additional single gene disorders, resulting in avoiding the birth of affected child with monogenic disorder, as well as without BRCA genes predisposing to developing breast cancer

Summary

Introduction

Preimplantation genetic testing (PGT) was shown to be an attractive option for couples at risk, allowing to avoid the inheritance of cancer predisposing genes to their offspring [1,2,3,4,5,6]. This paper will describe our experience of PGT for breast cancer predisposition, which was performed together with testing for additional single gene disorders, resulting in avoiding the birth of affected child with monogenic disorder, as well as without BRCA genes predisposing to developing breast cancer.

Results

Conclusion