TY  - BOOK
AU  - Heddar,Abdelkader
AU  -  Misrahi,Micheline
TI  - The discovery of the involvement of the Fanconi anemia DNA repair pathway in isolated primary ovarian insufficiency: Toward personalized and preventive medicine
PY  - 2022///.
							
N1  - 99
N2  - Primary ovarian insufficiency (POI) affects 1–3.7% of women before the age of 40. It is a public health problem. Despite an exhaustive assessment, approximately 60–70% of POI cases remain without an identified cause. Next-generation sequencing, in particular exome sequencing, has enabled the identification of several genes responsible for POI. To date, there are more than 80 POI-causing genes with a very high genetic heterogeneity. These recent advances in genetics have shown that the meiosis and DNA repair gene families are major families responsible for POI. The consequences are abnormal antenatal meiosis, with a very early alteration of the ovarian reserve, whose impact varies according to the gene responsible. Genetics can in fact predict a fertility prognosis. However, these genes are also tumor/cancer susceptibility genes, and identifying the genetic cause is also an opportunity to prevent or treat these comorbidities. Epidemiological studies have indeed shown a link between infertility and reduced lifespan. By identifying the molecular mechanism involved in POI, genetics allows personalized medicine to i) predict the impact of the molecular defect on the quality of the residual ovarian reserve, leading, if necessary, to early preservation of preventive fertility in the family; ii) identify the patients likely to develop comorbidities, and implement long-term treatment or prevention by working as a multidisciplinary team; and iii) identify new therapeutic targets that will lead to the development of innovative treatments in POI. This article focuses on the discovery of the involvement of genes in the double-stranded “Fanconi anemia” DNA repair pathway in POI and on the impact that this discovery has had on the management of patient treatment and genetic counseling
UR  - https://shs.cairn.info/journal-medecine-de-la-reproduction-2022-2-page-159?lang=en
ER  -