scholarly journals Analysis of GADD45A sequence variations in French Canadian families with high risk of breast cancer

2008 ◽  
Vol 53 (6) ◽  
pp. 490-498 ◽  
Author(s):  
Sylvie Desjardins ◽  
◽  
Geneviève Ouellette ◽  
Yvan Labrie ◽  
Jacques Simard ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
French Canadian ◽  
Sequence Variations

scholarly journals Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer

2009 ◽  
Vol 54 (3) ◽  
pp. 152-161 ◽  
Author(s):  
Frédéric Guénard ◽  
◽  
Yvan Labrie ◽  
Geneviève Ouellette ◽  
Charles Joly Beauparlant ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
French Canadian ◽  
Genetic Sequence ◽  
Sequence Variations

scholarly journals Genetic sequence variations and ADPRT haplotype analysis in French Canadian families with high risk of breast cancer

2007 ◽  
Vol 52 (12) ◽  
pp. 963-977 ◽  
Author(s):  
Francine Durocher ◽  
◽  
Yvan Labrie ◽  
Geneviève Ouellette ◽  
Jacques Simard
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Haplotype Analysis ◽  
French Canadian ◽  
Genetic Sequence ◽  
Sequence Variations

scholarly journals Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

BMC Cancer ◽  
2006 ◽  
Vol 6 (1) ◽  
Author(s):  
Francine Durocher ◽  
Yvan Labrie ◽  
Penny Soucy ◽  
Olga Sinilnikova ◽  
Damian Labuda ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Mutation Analysis ◽  
Sequence Variants ◽  
French Canadian

scholarly journals Polymorphic variations in theFANCAgene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population

2012 ◽  
Vol 7 (1) ◽  
pp. 85-100 ◽  
Author(s):  
Nadhir Litim ◽  
Yvan Labrie ◽  
Sylvie Desjardins ◽  
Geneviève Ouellette ◽  
Karine Plourde ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
French Canadian ◽  
Canadian Population

Effectiveness of Risk-Reducing Salpingo-Oophorectomy in Preventing Ovarian Cancer in a High-Risk French Canadian Population

2012 ◽  
Vol 22 (6) ◽  
pp. 974-978 ◽  
Author(s):  
Omar Moreira Bacha ◽  
Jean Gregoire ◽  
Katherine Grondin ◽  
Maria Isabel Edelweiss ◽  
Rachel Laframboise ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Fallopian Tube ◽  
French Canadian ◽  
Breast And Ovarian Cancer ◽  
Surgical Morbidity ◽  
Canadian Population ◽  
Increased Risk ◽  
Risk Reducing

BackgroundWomen with germ line BRCA1 or BRCA2 mutations have a marked increased risk of breast and ovarian cancer compared with the general population, whereas risk-reducing salpingo-oophorectomy (RRSO) significantly lowers the incidence of these cancers. The objective of this study was to review the clinical and pathological characteristics of a French Canadian population undergoing RRSO. Surgical morbidity was also evaluated.Materials and MethodsFrom December 1999 to December 2009, all women who underwent RRSO at our institution were identified. Medical records were retrospectively reviewed. Descriptive statistics, the Fischer exact test, and the Student t test were used for analysis.ResultsDuring the study period, RRSO was performed on 119 women. Mean age at surgery was 49 years (35–72 years), and 63 patients (53%) were premenopausal. Sixty-two women (52%) had a history of in situ or invasive breast cancer. BRCA1 and BRCA2 mutations were present in 34 patients (29%) and 42 patients (35%), respectively, whereas 43 patients (36%) were considered to have an increased risk of breast and ovarian cancer, despite a personal genetic test, which was either negative (n = 23) or unknown because the patient declined genetic testing (n = 20). Most patients with a uterus in place had a complementary hysterectomy (65%). Six complications occurred (3 hematomas, 2 cardiac arrhythmias, and 1 cystotomy). In one patient (0.8%), a high-grade stage II ovarian cancer was discovered at the time of surgery. Fallopian tube atypias were identified on final pathology in 8 cases (6.7%). After a median follow-up of 22 months, 4 women (3.4%) developed breast cancer and one woman (0.8%) developed peritoneal cancer.ConclusionsRisk-reducing salpingo-oophorectomy is highly effective in preventing ovarian, fallopian tube, and breast cancers in a high-risk French Canadian population; and the surgical morbidity is low.

scholarly journals Mutation analysis and characterization of HSD17B2 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer

2008 ◽  
Vol 40 (4) ◽  
pp. 161-172 ◽  
Author(s):  
Marie Plourde ◽  
Caroline Manhes ◽  
Gilles Leblanc ◽  
Francine Durocher ◽  
Martine Dumont ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Germline Mutations ◽  
Breast Cancer Susceptibility Gene ◽  
Sequence Variants ◽  
Sequencing Analysis ◽  
French Canadian ◽  
Estrogen Exposure

Estrogen exposure is a risk factor for breast cancer. Given that HSD17B2 gene encodes an enzyme that catalyses estradiol inactivation, it appears as a good candidate breast cancer susceptibility gene. This study was designed to screen for HSD17B2 germline mutations potentially involved in breast cancer predisposition. Our re-sequencing analysis did not identify any deleterious germline mutations, and therefore mutations in HSD17B2 do not explain the clustering of breast cancer cases in non-BRCA1/2 high-risk French Canadian families. However, six sequence variants were identified, including two novel missense variants. Expression assays revealed that p.Ala111Asp and p.Gly160Arg did not alter the catalytic properties of 17β-hydroxysteroid dehydrogenase type 2 enzyme, although p.Ala111Asp appears to affect protein stability resulting in significant decreases in the protein levels, providing valuable information on structure–function relationship.

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