Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple ... more Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple cancers. However, current screening strategies have limited ability to screen for all cancer risks. Circulating tumour DNA (ctDNA) detects DNA fragments shed by tumour cells in the bloodstream and can potentially detect cancers early. This study aimed to explore patients’ perspectives on ctDNA’s utility to help inform its clinical adoption and implementation. We conducted a qualitative interpretive description study using semi-structured phone interviews. Participants were purposively sampled adult HCS patients recruited from a Canadian HCS research consortium. Thirty HCS patients were interviewed (n=19 women, age range 20s-70s, n=25 were white). Participants were highly concerned about developing cancers, particularly those without reliable screening options for early detection. They “just wanted more” than their current screening strategies. Participants were enthusiastic about ctDNA’s...
... S. Panchal Department of Medicine, The University of Toronto, Toronto, Ontario, Canada ... He... more ... S. Panchal Department of Medicine, The University of Toronto, Toronto, Ontario, Canada ... He has been better than I have at putting his cancer diagnosis and treatment behind him—tucked away in a corner of his mind, not to be forgotten, but not to be recalled too often, either. ...
Schnyder&... more Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp.
Breast Cancer Research and Treatment, Sep 30, 2009
The purpose of the study is to review the clinical studies relevant to the prognosis and prognost... more The purpose of the study is to review the clinical studies relevant to the prognosis and prognostic associations of BRCA1- and BRCA2-associated breast cancers. Reports of relevant studies obtained from a MEDLINE search and references from these articles were critically reviewed. A number of methodologic limitations have been identified in the early studies. More recent studies have failed to demonstrate, for the most part, a significant overall survival difference between BRCA-associated breast cancers and sporadic breast cancers. The risk of in-breast tumor recurrence also appears to be similar in the first 5 years following a breast cancer diagnosis with apparent increase in the risk after 5 years in one study. Many in-breast tumor recurrences are now considered to be second primary breast cancers. There is a significant increase in the risk of contralateral breast cancers in BRCA mutation carriers with an estimated 10-year risk ranging from 20-40%. The prognosis of BRCA-associated breast cancers appears to be similar to that of sporadic breast cancers based on the current literature. Future data from large prospective cohort studies will be of interest.
PURPOSE Alternative models of genetic counseling are needed to meet the rising demand for genomic... more PURPOSE Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment traditional counseling and reduce burden on professionals; however, their role in delivery of genetic counseling is not established. This study explored the role of the Genomics ADvISER, a digital decision aid, in delivery of genomic counseling. METHODS We performed secondary analysis of 52 pretest genetic counseling sessions that were conducted over the course of a randomized controlled trial evaluating the effectiveness of the Genomics ADvISER. As part of the trial, participants were randomized to receive standard counseling or use the tool and then speak with a counselor. A qualitative interpretive description approach using thematic analysis and constant comparison was used for analysis. RESULTS In the delivery of genomic counseling, the Genomics ADvISER contributed to enhancing counseling by (1) promoting informed dialogue, (2) facilitating preference-sensitive deliberation, and (3) deepening personalization of decisions, all of which represent fundamental principles of patient-centered care: providing clear high-quality information, respecting patients' values, preferences, and expressed needs, and providing emotional support. CONCLUSION This study demonstrates that our digital tool contributed to enhancing patient-centered care in the delivery of genomic counseling.
22051 Background: Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary b... more 22051 Background: Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancer. Various risk assessment models are available to calculate the risk of a BRCA mutation, and a greater than 10% risk is often used to identify an eligible candidate for genetic testing. Of these models, the Penn II (http://www.afcri.upenn.edu/itacc/penn2/) and BOADICEA (https://pluto.srl.cam.ac.uk/cgi-bin/bd1/v1/bd.cgi) are the only models available on the internet. Here, we compare these models to determine their utility in patients from a large breast cancer program in our tertiary referral center. Methods: Risk assessments were done using the Penn II and BOADICEA models for 200 consecutively tested non-BRCA carriers, and 100 consecutively tested BRCA carriers from Mount Sinai Hospital, Toronto (Canada) from August 1995 and March 2006. Sensitivity and specificity were calculated at the 10% testing threshold. Receiver operating curves were constructed by plotting sensitivity over the f...
BackgroundThe objective of this study was to evaluate the impact of various surgical, hormonal, a... more BackgroundThe objective of this study was to evaluate the impact of various surgical, hormonal, and lifestyle factors on memory and attention in women with a BRCA1 or BRCA2 mutation.MethodsBRCA mutation carriers enrolled in a longitudinal study were invited to complete an online brain health assessment tool designed to screen for cognitive deficits. Four measures of memory and executive attention were assessed individually, and an overall score was compiled adjusting for age. Exposures, including preventive surgery, hormone use, and lifestyle factors, were captured by questionnaire. Performance on each of the 5 subtasks was analyzed according to various exposures. Analysis of covariance was used to compare overall scores.ResultsIn total, 880 women completed the online cognitive assessment. The average age of the participants was 54 years (range, 23‐86 years). The mean overall test score was 54.4 (range, 0‐93). The individual subtask scores declined with age at test completion (P < .0001) and increased with level of education (P ≤ .01). Women who underwent a preventive oophorectomy had a significantly higher overall score compared with women who did not undergo this surgery (55.5 vs 50.5; P = .01). Reconstructive breast surgery was also associated with a higher overall score (56.5 vs 52.3; P = .005). Chemotherapy and hormone‐replacement therapy were not predictive of the overall score.ConclusionsThese findings are reassuring to high‐risk women who undergo early surgical menopause for their cancer predisposition. Further studies are needed to evaluate cognitive function over time when memory deficits become more prevalent.
Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple ... more Hereditary cancer syndromes (HCS) predispose individuals to a higher risk of developing multiple cancers. However, current screening strategies have limited ability to screen for all cancer risks. Circulating tumour DNA (ctDNA) detects DNA fragments shed by tumour cells in the bloodstream and can potentially detect cancers early. This study aimed to explore patients’ perspectives on ctDNA’s utility to help inform its clinical adoption and implementation. We conducted a qualitative interpretive description study using semi-structured phone interviews. Participants were purposively sampled adult HCS patients recruited from a Canadian HCS research consortium. Thirty HCS patients were interviewed (n=19 women, age range 20s-70s, n=25 were white). Participants were highly concerned about developing cancers, particularly those without reliable screening options for early detection. They “just wanted more” than their current screening strategies. Participants were enthusiastic about ctDNA’s...
... S. Panchal Department of Medicine, The University of Toronto, Toronto, Ontario, Canada ... He... more ... S. Panchal Department of Medicine, The University of Toronto, Toronto, Ontario, Canada ... He has been better than I have at putting his cancer diagnosis and treatment behind him—tucked away in a corner of his mind, not to be forgotten, but not to be recalled too often, either. ...
Schnyder&... more Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp.
Breast Cancer Research and Treatment, Sep 30, 2009
The purpose of the study is to review the clinical studies relevant to the prognosis and prognost... more The purpose of the study is to review the clinical studies relevant to the prognosis and prognostic associations of BRCA1- and BRCA2-associated breast cancers. Reports of relevant studies obtained from a MEDLINE search and references from these articles were critically reviewed. A number of methodologic limitations have been identified in the early studies. More recent studies have failed to demonstrate, for the most part, a significant overall survival difference between BRCA-associated breast cancers and sporadic breast cancers. The risk of in-breast tumor recurrence also appears to be similar in the first 5 years following a breast cancer diagnosis with apparent increase in the risk after 5 years in one study. Many in-breast tumor recurrences are now considered to be second primary breast cancers. There is a significant increase in the risk of contralateral breast cancers in BRCA mutation carriers with an estimated 10-year risk ranging from 20-40%. The prognosis of BRCA-associated breast cancers appears to be similar to that of sporadic breast cancers based on the current literature. Future data from large prospective cohort studies will be of interest.
PURPOSE Alternative models of genetic counseling are needed to meet the rising demand for genomic... more PURPOSE Alternative models of genetic counseling are needed to meet the rising demand for genomic sequencing. Digital tools have been proposed as a method to augment traditional counseling and reduce burden on professionals; however, their role in delivery of genetic counseling is not established. This study explored the role of the Genomics ADvISER, a digital decision aid, in delivery of genomic counseling. METHODS We performed secondary analysis of 52 pretest genetic counseling sessions that were conducted over the course of a randomized controlled trial evaluating the effectiveness of the Genomics ADvISER. As part of the trial, participants were randomized to receive standard counseling or use the tool and then speak with a counselor. A qualitative interpretive description approach using thematic analysis and constant comparison was used for analysis. RESULTS In the delivery of genomic counseling, the Genomics ADvISER contributed to enhancing counseling by (1) promoting informed dialogue, (2) facilitating preference-sensitive deliberation, and (3) deepening personalization of decisions, all of which represent fundamental principles of patient-centered care: providing clear high-quality information, respecting patients' values, preferences, and expressed needs, and providing emotional support. CONCLUSION This study demonstrates that our digital tool contributed to enhancing patient-centered care in the delivery of genomic counseling.
22051 Background: Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary b... more 22051 Background: Mutations in the BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancer. Various risk assessment models are available to calculate the risk of a BRCA mutation, and a greater than 10% risk is often used to identify an eligible candidate for genetic testing. Of these models, the Penn II (http://www.afcri.upenn.edu/itacc/penn2/) and BOADICEA (https://pluto.srl.cam.ac.uk/cgi-bin/bd1/v1/bd.cgi) are the only models available on the internet. Here, we compare these models to determine their utility in patients from a large breast cancer program in our tertiary referral center. Methods: Risk assessments were done using the Penn II and BOADICEA models for 200 consecutively tested non-BRCA carriers, and 100 consecutively tested BRCA carriers from Mount Sinai Hospital, Toronto (Canada) from August 1995 and March 2006. Sensitivity and specificity were calculated at the 10% testing threshold. Receiver operating curves were constructed by plotting sensitivity over the f...
BackgroundThe objective of this study was to evaluate the impact of various surgical, hormonal, a... more BackgroundThe objective of this study was to evaluate the impact of various surgical, hormonal, and lifestyle factors on memory and attention in women with a BRCA1 or BRCA2 mutation.MethodsBRCA mutation carriers enrolled in a longitudinal study were invited to complete an online brain health assessment tool designed to screen for cognitive deficits. Four measures of memory and executive attention were assessed individually, and an overall score was compiled adjusting for age. Exposures, including preventive surgery, hormone use, and lifestyle factors, were captured by questionnaire. Performance on each of the 5 subtasks was analyzed according to various exposures. Analysis of covariance was used to compare overall scores.ResultsIn total, 880 women completed the online cognitive assessment. The average age of the participants was 54 years (range, 23‐86 years). The mean overall test score was 54.4 (range, 0‐93). The individual subtask scores declined with age at test completion (P < .0001) and increased with level of education (P ≤ .01). Women who underwent a preventive oophorectomy had a significantly higher overall score compared with women who did not undergo this surgery (55.5 vs 50.5; P = .01). Reconstructive breast surgery was also associated with a higher overall score (56.5 vs 52.3; P = .005). Chemotherapy and hormone‐replacement therapy were not predictive of the overall score.ConclusionsThese findings are reassuring to high‐risk women who undergo early surgical menopause for their cancer predisposition. Further studies are needed to evaluate cognitive function over time when memory deficits become more prevalent.
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