Genetic counselling for familial breast and ovarian cancer in Ontario

Andermann, Anne

doi:10.1136/jmg.39.9.695

Cited by 5 publications

(7 citation statements)

References 3 publications

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“…Presently, issues of genetic counseling for cancer have come to the forefront. Data from Ontario illustrate this trend, with breast cancer consultations surpassing the number of consultations for all other reasons, including pediatric conditions and fertility issues (43). Many important problems surface about the determination of individual risk of cancer when incomplete penetrance and frequent phenocopies confuse the picture, as is the case with BRCA1.…”

Section: Discussionmentioning

confidence: 98%

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

et al. 2007

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Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear. Determination of which variants are causally associated with cancer is important for assessment of individual risk. We used a functional assay that measures the transactivation activity of BRCA1 in combination with analysis of protein modeling based on the structure of BRCA1 BRCT domains. In addition, the information generated was interpreted in light of genetic data. We determined the predicted cancer association of 22 BRCA1 variants and verified that the common polymorphism S1613G has no effect on BRCA1 function, even when combined with other rare variants. We estimated the specificity and sensitivity of the assay, and by meta-analysis of 47 variants, we show that variants with <45% of wild-type activity can be classified as deleterious whereas variants with >50% can be classified as neutral. In conclusion, we did functional and structure-based analyses on a large series of BRCA1 missense variants and defined a tentative threshold activity for the classification missense variants. By interpreting the validated functional data in light of additional clinical and structural evidence, we conclude that it is possible to classify all missense variants in the BRCA1 COOH-terminal region. These results bring functional assays for BRCA1 closer to clinical applicability.

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Section: Discussionmentioning

confidence: 98%

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

et al. 2007

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“…Identifying mutations in these genes in women who are at risk of breast/ovarian cancer, or who already developed a cancer, is now part of routine clinical cancer genetics. Indeed, in the Canadian province of Ontario, a large part of the practice of medical genetics is now devoted to breast and ovarian cancer risk assessment [2], and most cancer centres have units devoted to hereditary cancer and/or cancer risk assessment.…”

Section: Introductionmentioning

confidence: 99%

BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis

Foulkes

2006

Familial Cancer

126

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BRCA1 and BRCA2 are important breast and ovarian cancer susceptibility genes, and mutations in these two genes confer lifetime risks of breast cancer of up to 80% and ovarian cancer risks of up to 40%. Clinico-pathological studies have identified features that are specific to BRCA1-related breast cancer, but this has been more difficult for BRCA2-related breast cancer. Ovarian cancers due to BRCA1 or BRCA2 mutations cannot usually be distinguished from their non-hereditary counterparts on morphological grounds, but micro-array data suggest that differences do exist. Prognostic studies have shown that breast cancer in a BRCA1 mutation carrier is likely to have a similar, or worse, outcome than that occurring in a BRCA2- or non-carrier of the same age. By contrast, most studies indicate that women developing a BRCA1/2-related ovarian cancer have an improved survival compared with non-carriers, particularly if they receive platinum-based therapy. In support of this, in vitro chemo-sensitivity studies have found that human cells lacking BRCA1 may be particularly sensitive to cisplatinum and to other drugs that cause double-strand breaks in DNA. Nevertheless, in breast cancer, little is known regarding clinically important differences in response to chemotherapy between BRCA1/2 mutation carriers and non-carriers, and between different chemotherapeutic regimens within existing series of BRCA1/2 mutation carriers. There are no published prospective studies. It is hoped that, in the near future, randomised controlled trials will be started with the aim of answering these important clinical questions.

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“…It is not surprising then, that increasing numbers of genetic counselors have been hired to work in a variety of non-genetic clinical settings with non-geneticist physicians (Andermann and Narod 2002;Ingles et al 2011;Matloff and Barnett 2011;Mendes et al 2011;Powell et al 2010;Somers et al 2014;Swanson et al 2014;Vanstone et al 2012). A recent Canadian Association of Genetic Counseling professional status survey revealed that 15 % of respondents work with non-geneticist physicians or with no physicians (CAGC 2012a).…”

Section: Changing Trends In Canadian Healthcare and Genomic Medicinementioning

confidence: 95%

“…Genetic counselors are being called upon to interpret variants of uncertain significance, to counsel about health risk management strategies, pharmaco-genomic implications and training non-genetics health care providers to provide genetics risk assessment and counseling. Although there is limited data available specific to the Canadian genetic counselling workforce, the literature predicts a future shortage of qualified genetic counselors due to expanded roles and increased demand for genetic testing and counselling (Andermann and Narod 2002;Botkin et al 2015;Eisenstein 2015;Hawkins and Hayden 2011;Ontario 2008;Vanstone et al 2012).…”

Section: Changing Trends In Canadian Healthcare and Genomic Medicinementioning

confidence: 99%

“…The pressure on primary care providers and non-genetics specialists to expand their role in genetic risk assessment and counseling is increasing, despite insufficient training and education (Andermann and Blancquaert 2010;Bensend et al 2014;Carroll et al 2009;Egalite et al 2014;Houwink et al 2012;Korf et al 2014;Mendes et al 2011;Shields et al 2008;Vanstone et al 2012;Zhou et al 2014). It is not surprising then, that increasing numbers of genetic counselors have been hired to work in a variety of non-genetic clinical settings with non-geneticist physicians (Andermann and Narod 2002;Ingles et al 2011;Matloff and Barnett 2011;Mendes et al 2011;Powell et al 2010;Somers et al 2014;Swanson et al 2014;Vanstone et al 2012). A recent Canadian Association of Genetic Counseling professional status survey revealed that 15 % of respondents work with non-geneticist physicians or with no physicians (CAGC 2012a).…”

Section: Changing Trends In Canadian Healthcare and Genomic Medicinementioning

confidence: 99%

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Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation

Shugar

Quercia

Trevors³

et al. 2016

Journal of Genetic Counseling

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With the increasing awareness of genetic contributions to disease in Canada, the availability of and demand for genetic testing has soared. Genetic counseling is becoming a recognized and rapidly growing (yet unregulated) health profession in Canada. We hypothesized that the potential risk for harm to the public posed by genetic counseling practice in the province of Ontario is sufficient to consider regulation. The Ontario Ministry of Health and Long-Term Care (MOHTLC) sets criteria (both primary and secondary) to identify health professional bodies that meet the threshold for regulation in the province. We developed a survey based on the MOHTLC criteria to determine if genetic counselors meet the primary criteria to be considered for health professions regulation in Ontario. We surveyed 120 Ontario genetic counselors about their clinical practice and perceptions of risk for harm to the public. Results indicate that Ontario genetic counselors are highly independent in their clinical practice and are involved in patient care activities, clinical judgement and decision-making that have the potential to harm patients. In particular, cancer genetic counselors were identified as a cohort that practices with relatively high autonomy and low supervision. In summary, our study indicates that genetic counseling practice in Ontario meets the primary criteria to be considered for regulation.

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Genetic counselling for familial breast and ovarian cancer in Ontario

Cited by 5 publications

References 3 publications

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

BRCA1 and BRCA2: Chemosensitivity, Treatment Outcomes and Prognosis

Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation

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