Partnering in Oncogenetic Research – The INHERIT BRCAs Experience: Opportunities and Challenges

Avard, Denise; Bridge, Peter J.; Bucci, Lucie M.; Chiquette, Jocelyne; Dorval, Michel; Durocher, Francine; Easton, Doug; Godard, Béatrice; Goldgar, David E.; Knoppers, Bartha Maria; Laframboise, Rachel; Bernard, Loris; Plante, Marie; Tavtigian, Sean V.; Vézina, Hélène; Wilson, Brenda J.; BRCAs, Inherit; Simard, Jacques

doi:10.1007/s10689-005-2570-8

Cited by 14 publications

(12 citation statements)

References 46 publications

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“…After obtaining a signed informed consent from each participant, genomic DNA was extracted from blood samples using standard procedures at the Cancer Genomics Laboratory at CHUQ/CHUL Research Center, Quebec City. More details about experimental and clinical procedures as well as the INHERIT BRCAs research program have been described elsewhere (5,(13)(14)(15). Overall, f1 hour was spent with each participant for genetic counseling per se.…”

Section: Methodsmentioning

confidence: 99%

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Dorval

Gauthier²,

Maunsell³

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured. Methods: Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using selfadministered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life.

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Section: Methodsmentioning

confidence: 99%

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Dorval

Gauthier²,

Maunsell³

et al. 2005

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…[37][38][39] The recruitment of index cases was made possible by a network of referring clinicians across the province of Quebec. Potential participants were first approached by their clinicians who explained to them the nature and objectives of the research project.…”

Section: Ascertainment Of Familiesmentioning

confidence: 99%

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Dumont

Moisan

Gaborieau

et al. 2006

Journal of Medical Genetics

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Background and objective:In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. Results: 8 of the 15 distinct mutations found in 62 BRCA1/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in >2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores >18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p,0.001). A threshold of Manchester Score >18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores >18, represents an efficient test in terms of overall cost and sensitivity.

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“…This study is part of the multidisciplinary research program, Interdisciplinary Health Research International Team on Breast Cancer Susceptibility, which provided BRCA1/2 genetic testing to French-Canadian individuals in the province of Quebec (6). In accordance with genetic testing practice standards (7), pretest education and result disclosure sessions were offered to BRCA1/2 test candidates (women >18 years of age with an extensive family history of breast cancer or ovarian cancer, i.e., three first-degree relatives or a combined total of four first-or second-degree relatives with breast or ovarian cancer).…”

Section: Methodsmentioning

confidence: 99%

Effect of the Women's Health Initiative Study Publication on Hormone Replacement Therapy Use among Women Who Have Undergone BRCA1/2 Testing

Dorval¹,

Vallée²,

Plante³

et al. 2007

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Since the publication, in July 2002, of the Women's Health Initiative (WHI) study, use of hormone replacement therapy (HRT) has decreased substantially in the general population. However, little is known about the effect of WHI study results on HRT use among women at high risk of breast cancer. The purpose of this study is to compare HRT use, prepublication versus postpublication of the WHI study, among women tested for BRCA1/2 mutations. Methods: Participants were >35 years of age and had received their result of genetic testing (delivered within the interdisciplinary research program Interdisciplinary Health Research International Team on Breast Cancer Susceptibility), no later than February 28, 2005. HRT use was reported in self-administered questionnaires, 1 year after result disclosure. Women returning their questionnaire before July 17, 2002 were classified as pre-WHI, whereas those

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Partnering in Oncogenetic Research – The INHERIT BRCAs Experience: Opportunities and Challenges

Cited by 14 publications

References 46 publications

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Effect of the Women's Health Initiative Study Publication on Hormone Replacement Therapy Use among Women Who Have Undergone BRCA1/2 Testing

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