Personne :
Simard, Jacques

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Université Laval. Département de médecine moléculaire
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  • Publication
    Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations
    (Elsevier, 2004-08-16) Simard, Jacques; Morissette, Jean; Gaudet, Daniel; Vohl, Marie-Claude; Gagné, Claude; Després, Jean-Pierre; Couture, Patrick; Bergeron, Jean
    Familial hypercholesterolemia (FH) is one of the most common autosomal codominant diseases. FH is caused by mutations in the low-density lipoprotein receptor (LDLR) gene and is characterized by raised plasma LDL-cholesterol, tendon xanthomas, and premature coronary heart disease. The frequency of FH among French Canadians in northeastern Québec is higher than in most other populations, 1:154 vs. 1:500 due to high prevalence of few recurrent mutations in the LDLR gene. In the French Canadian population, 11 mutations in the LDLR gene have been found to occur in geographically diverse areas and account for >90% of cases. We have first constructed a high-resolution genetic map to locate several highly polymorphic markers close to LDLR locus, thus providing the necessary tools to study the origin of the four most common mutations which account for ≈80% of our FH patients. We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del>15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del>15kb/W66G; del>15kb/C646Y) and seven homozygotes (three del>15 kb; three W66G; one E207K) with FH unrelated to the first and second degree. We have found that patients bearing the same LDLR gene mutation carry a common haplotype at the LDLR locus although there is evidence for the early occurrence of a recombinational event between the LDLR and the D19S221 locus in the French Canadian patients bearing the W66G mutation. The fine mapping of LDLR gene close to several highly informative microsatellite markers provide fine mapping details of the LDLR region and additional tools for studies of association between plasma lipoprotein levels and LDLR gene.
  • Publication
    Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing heterozygous familial hypercholesterolemia among French Canadians
    (Oxford University Press, 1994-09-01) Simard, Jacques; Moorjani, Sital; Labrie, Fernand; Lupien, Paul-J.; Vohl, Marie-Claude; Torres, Ana Lucia; Després, Jean-Pierre; Gagné, Claude; Couture, Patrick
  • Publication
    Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians
    (Wiley-Liss, 1995-03-01) Simard, Jacques; Labrie, Fernand; Moorjani, Sital; Lupien, Paul-J.; Torres, Ana Lucia; Vohl, Marie-Claude; Gagné, Claude; Després, Jean-Pierre; Couture, Patrick
    Familial hypercholesterolemia (FH) has an estimated frequency of 1:154 among French Canadians in Northeastern Quebec, compared with 1:500 in most other populations. FH is caused by numerous mutations of the low-density lipoprotein (LDL) receptor gene, but only six well-characterized mutations are known to cause FH in French Canadians. High prevalence of the phenotype, along with a limited number of mutations in this population, provides a unique opportunity to study genotype-phenotype variation. Since the current methods for detection of point mutations in this population use complicated approaches, we report polymerase chain reaction (PCR)-based restriction fragment analysis to detect all four point mutations. This approach provides a rapid diagnosis and is suitable to screen large number of samples for studies in genetic epidemiology; it should be useful in identifying FH in other populations bearing the same mutations.
  • Publication
    Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
    (Wiley-Liss, 2011-04-28) Simard, Jacques; Labrie, Fernand; Gagné, Claude; Lupien, Paul-J.; Gaudet, Daniel; Torres, Ana Lucia; Vohl, Marie-Claude; Després, Jean-Pierre; Couture, Patrick; Moorjani, Sital
  • Publication
    Accès libre
    A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer : the C-MOnGene study
    (MDPI, 2021-05-31) Gekas, Jean; Simard, Jacques; Castonguay, Lysanne; Joly, Yann; Ruizmangas, Maria-Gabriela; Hébert, Johanne; Lapointe, Julie; Chiquette, Jocelyne; Roy, Marie-Claude; Pomey, Marie-Pascale; Desbiens, Christine; Cruz-Mariño, Tania; Dorval, Michel; Touhami, Omar; Brousseau, Claire; Guertin, Jason Robert; Gagnon, Sylvain; Fortier, Sylvain; Lachapelle, Philippe; Rhéaume, Josée.; Gosselin, Isabelle; Côté, Madeleine; Laberge, Maude; Nabi, Hermann; Boisvert, Karine; Poirier, Brigitte; Bouchard, Karine; Roy, Stéphane; Lavoie, Sabrina; Blanchet Saint-Pierre, Arnaud; Beaumont, Martin; Plante, Marie; Sebastianelli, Alexandra; Racine, Marie-Michelle; Renaud, Marie-Claude; Côté, Nathalie; Brisson, Carmen; Charette, Nelson; Faucher, Valérie; Leblanc, Josianne; Dubeau, Marie-Ève
    Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.