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GeneGender: genetic target testing in neoplasia predisposition syndromes: analysis of sex ratio in probands and relatives
Mémoire de Master / Thèse d'exercice   Open Access

GeneGender: genetic target testing in neoplasia predisposition syndromes: analysis of sex ratio in probands and relatives

Ana Maria Afonso de Matos Soares De Azevedo
Masters , Université de Montpellier
19/06/2024

Résumé

Gender ratio Hereditary Cancer Probands At-risk relatives Dépistage génétique Cancer -- Prévention Hérédité Parenté Tumeurs -- prévention et contrôle Techniques de diagnostic moléculaire Syndromes néoplasiques héréditaires
Several reports suggest that women may be more concerned by precision medicine. Gender norms related to perception of own health and the protective role towards descendants have been mentioned as an important element in the complex approach to cancer prevention strategies, in what was defined as “gendered embodiment of genetic information”. We propose a systematic database analysis, from January 2004 to January 2024, of genetic counselling consultation attendance in probands. We also aim to determine gender differences, when at risk relatives are informed of an identified pathogenic variant in the family, and factors determining those differences in the uptake of presymptomatic genetic testing in gender unbiased cancers. Part 1 of our study showed that, as expected, women are more prone to attend genetic counselling and uptake presymptomatic testing. Also, genetic cascade testing numbers, (stable since 2013) indicate that this process is underutilized, despite its clear health care advantages. By identifying the modifying factors contributing to the uptake of genetic counselling and testing in families on part 2, and by understanding the different motivators between men and women, we will be able to encourage genetic counsellors and geneticists to take the elements into account in order to increase motivation for hereditary predisposition diagnosis in patients and family members, regardless of gender.

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