The most common neoplasm found in young to middle-aged men is testicular cancer (TCa). This disease not only poses a risk of early death, but can also affect a male's fertility and testosterone levels and can diminish one's mental health and/or quality of life. One particular line of research that is emerging in the field is a possible genetic association of TCa with female reproductive cancers. We employed a systematic review to assess the methodological quality of articles that met the inclusionary criteria. To be selected for this review, articles had to go through a primary, secondary, and tertiary screening procedure using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement guidelines. Four studies were selected, and the Newcastle-Ottawa Scale (NOS) was used to measure the quality of each nonrandomized, case-control or cohort study. Two articles received perfect scores, one case-control study received a near-perfect score of 8 out of 9 stars, and only one out of the four included studies received 5 out of 9 stars. Upon organizing and analyzing the data, we found a significantly increased risk (20%) of female reproductive cancer among women who had a father with TCa. Also, we found that men were 12% more likely to develop TCa if they had a sister with female reproductive cancer, and 16% more likely if their mother had ovarian, endometrial, breast or cervical cancer. The goal of this review was to assess the overall strength of association, or lack thereof, between TCa and female reproductive cancers. Findings of this review suggest that an association exists between these discordant forms of cancer. There were significant risks found between mothers and sons, backed by substantial evidence of an X-linked inheritance pattern. This information has the potential to improve our knowledge of cancer etiology and treatment.

La lèpre est une maladie tropicale négligée qui atteint près de 200 000 personnes chaque année et dont l’agent causal est Mycobacterium leprae. La susceptibilité génétique de l’hôte à la maladie est bien établie, et a permis de comprendre certains mécanismes de la physiopathologie de la maladie. Il existe par ailleurs une grande variabilité inter-individuelle des manifestions cliniquesde la maladie, qui s’étendent d’un pôle dit tuberculoïde à un pôle dit lépromateux. Nous avons cherché à identifier les facteurs de susceptibilité génétique à cette polarisation de la maladie. Nous avons tout d’abord décrit que le sexe et l’âge sont des facteurs non-génétiques associés à ce phénotype.Notre travail s’est ensuite appuyé sur les outils classiques de l’épidémiologie génétique, c’est à dire les études de liaison et d’association, pour identifier des variants génétiques qui influencent la polarisation de la lèpre. Nous avons utilisé une puce à ADN pangénomique avec plus de 500 000 marqueurs pour génotyper un échantillon de familles vietnamiennes comprenant 939 malades, dont 692 enfants. Nous avons identifié une liaison de la région 19p12 avec la polarisation de la lèpre. L’étude d’association n’a pas permis d’identifier de signal significatif à l’échelle du génome. Nous avons développé un nouveau test d’association pour des données familiales qui a permis d’améliorer les résultats sans atteindre la significativité. Notre travail sera prolongé par des études d’association dans deux populations cas-témoins du Vietnam et du Brésil. Nous chercherons à identifier les marqueurs causaux au sein de la région de liaison 19p12 d’une part, et à découvrir de nouveaux variants d’autre part. L’identification de marqueurs associés à la polarisation de la lèpre permettra de mieux prévoir l’évolution de la maladie et de proposer des traitements plus ciblés selon le risque génétique individuel. / Leprosy is a neglected tropical disease that affects nearly 200,000 people each year and caused byMycobacterium leprae. Genetic host susceptibility to the disease is well established, and helped to understand some of the mechanisms of the disease’s physiopathology. There is also a wide inter-individual variability of the clinical manifestations of the disease, which runs from a so-said tuberculoid to a so-said lepromatous pole. We sought to identify genetic susceptibility factors for this polarization of the disease. We initially described gender and age as non-genetic factors associated with this phenotype. We then based our analysis on the classical tools from thefield of genetic epidemiology, namely linkage and association studies, to identify genetic variants that influence leprosy polarization. We used a DNA-microarray with 500,000 markers spanning over the whole genome to genotype a sample of Vietnamese families including 939 patients, of which 692 were children. We have found a region linked to leprosy polarization on chromosome 19p12. The association study could not identify a significant signal across the genome. We developed a new test for association designed for familial data that improved the results without reaching significance. Our work will be pursued by association studies in two case-control populations from Vietnam and Brazil. We will try to identify the causal markers within the 19p12 linkage region on the one hand, and to discover new variants on theother hand. The identification of markers associated with leprosy polarization could help us to better predict the evolution of the disease, and to offer more targeted treatments to patients, based on their individual genetic risk.