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1.
Eur J Hum Genet ; 2019 Sep 16.
Artigo em Inglês | MEDLINE | ID: mdl-31527859

RESUMO

Palliative care may be an opportunity to discuss cancer family history and familial cancer risks with patients' relatives. It may also represent the last opportunity to collect, from dying patients, clinical data and biospecimens that will inform cancer risk assessment and prevention in their surviving relatives. This study aims to explore the perspectives of cancer patients' relatives about cancer heritability, addressing cancer family history, and performing genetic testing in palliative care settings. Thirteen first-degree relatives of cancer patients who died in palliative care participated in the study. Two focus groups were conducted and transcribed verbatim. Two independent coders conducted a thematic content analysis. The themes included: (1) Knowledge of cancer heritability; (2) Experiences and expectations regarding cancer family history discussions, and (3) Views on genetic testing in palliative care patients and DNA biobanking. Participants seemed aware that cancer family history is a potential risk factor for developing the disease. They considered the palliative care period an inappropriate moment to discuss cancer heritability. They also did not consider palliative care providers as appropriate resources to consult for such matters as they are not specialized in this field. Participants welcomed DNA biobanking and genetic testing conducted at the palliative care patients' request. Cancer occurrence within families raises concerns among relatives about cancer heritability, but the palliative care period is not considered the most appropriate moment to address this issue. However, discussions about the risk to cancer patients' relatives might need to be considered on a case-by-case basis.

2.
Br J Cancer ; 121(2): 180-192, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31213659

RESUMO

BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS: We applied a Mendelian randomisation approach to examine height/BMI with ovarian cancer risk using the Consortium of Investigators for the Modifiers of BRCA1/2 (CIMBA) data set, comprising 14,676 BRCA1 and 7912 BRCA2 mutation carriers, with 2923 ovarian cancer cases. We created a height genetic score (height-GS) using 586 height-associated variants and a BMI genetic score (BMI-GS) using 93 BMI-associated variants. Associations were assessed using weighted Cox models. RESULTS: Observed height was not associated with ovarian cancer risk (hazard ratio [HR]: 1.07 per 10-cm increase in height, 95% confidence interval [CI]: 0.94-1.23). Height-GS showed similar results (HR = 1.02, 95% CI: 0.85-1.23). Higher BMI was significantly associated with increased risk in premenopausal women with HR = 1.25 (95% CI: 1.06-1.48) and HR = 1.59 (95% CI: 1.08-2.33) per 5-kg/m2 increase in observed and genetically determined BMI, respectively. No association was found for postmenopausal women. Interaction between menopausal status and BMI was significant (Pinteraction < 0.05). CONCLUSION: Our observation of a positive association between BMI and ovarian cancer risk in premenopausal BRCA1/2 mutation carriers is consistent with findings in the general population.

5.
J Natl Cancer Inst ; 2018 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-30312457

RESUMO

Background: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear. Methods: We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided. Results: Observed height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer. Conclusion: Height is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.

6.
Fam Cancer ; 17(2): 303-307, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28674754

RESUMO

Addressing the concerns of end-of-life patients or their relatives about their family history of cancer could benefit patients and family members. Little is known about how palliative care providers respond to these concerns. The purpose of this pilot study was to assess palliative care providers' knowledge about familial and hereditary cancers and explore their exposure to patients' and relatives' concerns about their family history of cancer, and their self-perceived ability to deal with such concerns. A cross-sectional survey was conducted in the Quebec City (Canada) catchment area among palliative care professionals. Fifty-eight palliative care professionals working in hospice, home care and hospital-based palliative care units completed the questionnaire. All physicians and 63% of nurses occasionally addressed concerns of patients and relatives about their family history of cancer, but they reported a low confidence level in responding to such concerns. They also showed knowledge gaps in defining features of a significant family history of cancer, and most (78%) would welcome specific training on the matter. Our findings highlight the relevance of offering education and training opportunities about familial cancers and associated risks to palliative care providers. The needs and concerns of end-of-life patients and their families need to be explored to ensure palliative care providers can adequately assist patients and their relatives about their family history of cancer. Ethical implications should be considered.

7.
J Cancer Educ ; 33(3): 569-575, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27804029

RESUMO

Although most parents carrying a BRCA1/2 genetic mutation share their test result with their underage children, they report needing support to decide if, when, and how to share risk information and what reactions to expect from their children. We developed a tool to guide parents carrying a BRCA1/2 mutation share their genetic result with underage children. Here, we report on the development of this tool using a qualitative methodology. A tool prototype was developed based on the International Patient Decision Aids Standards Collaboration framework. Content was assessed using feedback from focus groups, individual interviews, and a 12-item reading grid. Participants were nine BRCA1/2 mutation carriers with underage children and three cancer genetics health professionals. Thematic content analysis was conducted on interview transcripts. The tool was developed using an iterative process until saturation of data. An independent advisory committee was involved in all steps of tool development until reaching consensus. Rather than a decision aid per se (to communicate or not), the parents wanted a more comprehensive tool to help them communicate genetic test result to their children. To meet parents' needs, a communication guidance booklet was developed, setting out the pros and cons of communication, steps to prepare sharing the test result, communication tips, and parents' testimonies. This communication tool responds to a significant unmet need faced by parents carrying a genetic predisposition to cancer. Future studies are needed to assess how the information from the parent's genetic test result impacts the child's development, health behaviors, and relationship with the parent.

9.
Cancer Epidemiol Biomarkers Prev ; 26(8): 1233-1241, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28515107

RESUMO

Background: This double-blind, placebo-controlled parallel group trial assessed whether oral supplementation with 1,000, 2,000, or 3,000 IU/day vitamin D3 over one year reduces percent mammographic breast density in premenopausal women.Methods: The trial was conducted between October 2012 and June 2015, among premenopausal female volunteers from Quebec City (Quebec, Canada). Women were randomized with ratio 1:1:1:1 to one of four study arms (1,000, 2,000, or 3,000 IU/day vitamin D3 or placebo). The primary outcome was mean change in percent mammographic breast density. Participants and research team were blinded to study arm assignment.Results: Participants (n = 405) were randomized to receive 1,000 (n = 101), 2,000 (n = 104), or 3,000 IU/day (n = 101) vitamin D3, or a placebo (n = 99). The primary analysis included 391 participants (96, 99, 100, and 96, respectively). After the one-year intervention, mean ± SE change in percent breast density in the arms 1,000 IU/day (-5.5% ± 0.5%) and 2,000 IU/day (-5.9% ± 0.5%) vitamin D3 was similar to that in the placebo arm (-5.7% ± 0.5%) (P values = 1.0). In the 3,000 IU/day vitamin D3 arm, percent breast density also declined but slightly less (-3.8% ± 0.5%) compared with placebo arm (P = 0.03). Adherence to intervention was excellent (92.8%), and reporting of health problems was comparable among study arms (P ≥ 0.95). All participants had normal serum calcium.Conclusions: In premenopausal women, one-year supplementation with 1,000, 2,000, or 3,000 IU/day vitamin D3 resulted in a reduction of percent breast density no greater than that seen with the placebo.Impact: At doses of 1,000-3,000 IU/day, vitamin D supplementation will not reduce breast cancer risk through changes in breast density. Cancer Epidemiol Biomarkers Prev; 26(8); 1233-41. ©2017 AACR.


Assuntos
Densidade da Mama/fisiologia , Colecalciferol/uso terapêutico , Suplementos Nutricionais/estatística & dados numéricos , Adulto , Colecalciferol/farmacologia , Feminino , Humanos , Pré-Menopausa
10.
Breast Cancer Res Treat ; 161(1): 117-134, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27796716

RESUMO

PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. CONCLUSION: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.


Assuntos
Alelos , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/etiologia , Genes BRCA1 , Genes BRCA2 , Heterozigoto , Mutação , Biomarcadores Tumorais , Cromossomos Humanos Par 11 , Feminino , Expressão Gênica , Predisposição Genética para Doença , Variação Genética , Humanos , Locos de Características Quantitativas , Risco
11.
Fam Cancer ; 16(1): 35-40, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-27554086

RESUMO

Little is known about the change in mammograms use by women after BRCA1/2 genetic testing. We compared the rate of bilateral mammograms after and prior to BRCA1/2 testing, according to test result. Information from the Quebec Health Insurance Board database was used to identify all registered mammograms delivered between May 1, 1998 and March 31, 2012 to a cohort of 396 unaffected French Canadian women tested for BRCA1/2 mutations. Mammograms incidence density ratios were calculated using the Cox proportional hazards model for repeated events. BRCA1/2 mutation carriers and women with an inconclusive result had more mammograms after, than prior to, genetic testing. Non-carriers did not receive more mammograms. The observed increase in mammography screening in BRCA1/2 carriers is consistent with the high risk of developing breast cancer in this group. The estimation of the cancer risk associated with an inconclusive result is based on familial cancer history, and women who received this result appear to have received follow-up as if at high risk. The fact that non-carriers did not change their use of mammograms after genetic testing may possibly reflect a 'defensive medicine' approach by some physicians or the women's preference.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico por imagem , Mamografia/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Heterozigoto , Humanos , Imagem por Ressonância Magnética , Mamografia/estatística & dados numéricos , Pessoa de Meia-Idade , Mutação , Quebeque
12.
Breast Cancer Res ; 18(1): 112, 2016 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-27836010

RESUMO

BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2. RESULTS: The majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p < 0.001). BC in TH was more likely to be estrogen receptor (ER) positive (p = 0.010) or progesterone receptor (PR) positive (p = 0.013) than in SH1, but less likely to be ER positive (p < 0.001) or PR positive (p = 0.012) than SH2. Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. CONCLUSIONS: Our observations suggest that clinical TH phenotypes resemble SH1. However, TH breast tumor marker characteristics are phenotypically intermediate to SH1 and SH2.


Assuntos
Genes BRCA1 , Genes BRCA2 , Mutação em Linhagem Germinativa , Vigilância da População , Alelos , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Éxons , Feminino , Heterozigoto , Humanos , Perda de Heterozigosidade , Fenótipo , Regiões Promotoras Genéticas
13.
Nat Commun ; 7: 12675, 2016 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-27601076

RESUMO

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3'-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.


Assuntos
Alelos , Neoplasias da Mama/genética , Cromossomos Humanos Par 19/genética , Predisposição Genética para Doença , Neoplasias Ovarianas/genética , Polimorfismo de Nucleotídeo Único , Grupo com Ancestrais do Continente Africano/genética , Grupo com Ancestrais do Continente Asiático/genética , Feminino , Estudo de Associação Genômica Ampla , Genótipo , Humanos , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
14.
Can Assoc Radiol J ; 67(4): 308-312, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27318890

RESUMO

PURPOSE: In Canada, recommendations for clinical management of hereditary breast and ovarian cancer among individuals carrying a deleterious BRCA1 or BRCA2 mutation have been available since 2007. Eight years later, very little is known about the uptake of screening and risk-reduction measures in this population. Because Canada's public health care system falls under provincial jurisdictions, using provincial health care administrative databases appears a valuable option to assess management of BRCA1/2 mutation carriers. The objective was to explore the usefulness of public health insurance administrative databases in British Columbia, Ontario, and Quebec to assess management after BRCA1/2 genetic testing. METHODS: Official public health insurance documents were considered potentially useful if they had specific procedure codes, and pertained to procedures performed in the public and private health care systems. RESULTS: All 3 administrative databases have specific procedures codes for mammography and breast ultrasounds. Only Quebec and Ontario have a specific procedure code for breast magnetic resonance imaging. It is impossible to assess, on an individual basis, the frequency of others screening exams, with the exception of CA-125 testing in British Columbia. Screenings done in private practice are excluded from the administrative databases unless covered by special agreements for reimbursement, such as all breast imaging exams in Ontario and mammograms in British Columbia and Quebec. There are no specific procedure codes for risk-reduction surgeries for breast and ovarian cancer. CONCLUSION: Population-based assessment of breast and ovarian cancer risk management strategies other than mammographic screening, using only administrative data, is currently challenging in the 3 Canadian provinces studied.


Assuntos
Demandas Administrativas em Assistência à Saúde , Neoplasias da Mama/diagnóstico por imagem , Bases de Dados Factuais , Detecção Precoce de Câncer/estatística & dados numéricos , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias da Mama/genética , Colúmbia Britânica , Feminino , Genes BRCA1 , Genes BRCA2 , Humanos , Seguro Saúde , Imagem por Ressonância Magnética/estatística & dados numéricos , Mamografia/estatística & dados numéricos , Programas Nacionais de Saúde , Ontário , Neoplasias Ovarianas/genética , Quebeque , Ultrassonografia Mamária/estatística & dados numéricos
15.
Genet Med ; 18(6): 627-34, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26540155

RESUMO

PURPOSE: Most women from BRCA1/2 mutation-positive families who did not inherit the familial mutation have breast and ovarian cancer risks similar to those of women of the same age in the general population. However, recent studies suggest that some of these noncarriers may exhibit screening practices that may be considered as excessive compared to general population screening guidelines. Reasons for such tendencies remain largely unknown. This study aims to better understand how the implications of a noncarrier status are explained to these women and how their own realization of this status affects their screening behaviors. METHODS: A qualitative study was conducted with five focus groups (n = 28) in Quebec City and Montreal, Canada. RESULTS: Thematic analysis of the discussions highlighted four major themes: (i) acquiring a noncarrier identity takes place progressively; (ii) noncarriers show a range of opinions about screening; (iii) noncarriers have mixed feelings about the follow-up by their physicians and gynecologists; and (iv) noncarriers need more information in a context where genetics progresses ever more rapidly. CONCLUSION: Our results provide novel insights regarding the physician-patient interaction and the organizational aspects of the health-care system that may significantly impact the cancer screening practices of BRCA1/2 noncarriers.Genet Med 18 6, 627-634.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/epidemiologia , Detecção Precoce de Câncer , Neoplasias Ovarianas/epidemiologia , Adolescente , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Canadá , Feminino , Seguimentos , Heterozigoto , Relações Hospital-Médico , Humanos , Pessoa de Meia-Idade , Mutação , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Fatores de Risco
16.
Per Med ; 11(1): 113-124, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29751390

RESUMO

This review describes the characteristics of available educational tools used for BRCA1/2 genetic testing. To identify the tools, we conducted a systematic search in electronic databases, and contacted over 1000 cancer genetics professionals. This review is based on 68 tools from the USA, Canada, Australia, the UK, France and Ireland. The tools vary in format and scope depending on the genetic testing phase for which they are intended. We found that a wide diversity of educational materials are available and used for BRCA1/2 genetic testing around the world. However, a substantial number of tools fail to address important aspects of genetic testing.

17.
Bull Cancer ; 100(3): 201-11, 2013 Mar.
Artigo em Francês | MEDLINE | ID: mdl-23501099

RESUMO

UNLABELLED: Prophylactic mastectomy is an effective, although controversial strategy to reduce the risk of breast cancer in women carrying a BRCA1/2 mutation. A multidisciplinary pre- and post-operative clinical management is recommended for women who consider or undergo this surgery, because of its radical and irreversible nature as well as its possible impact on quality of life. OBJECTIVE: This study aims to report on the experience of patients having undergone prophylactic mastectomy within a medical setting offering such a clinical management. METHODS: A retrospective qualitative study was conducted with patients having had a prophylactic mastectomy between 2002 and 2006 at the centre des maladies du sein Deschênes-Fabia (CMSDF) in Quebec City. Fifteen women were interviewed and the narratives were analyzed using thematic content analysis method. RESULTS: The participants generally appreciated the multidisciplinary approach that was used at the CMSDF and believed it was necessary. Improvements were suggested regarding information and post-surgical medical follow-up, some of which are now implemented. CONCLUSION: The study results confirm the utility and the acceptability of a multidisciplinary clinical follow-up for women who undergo prophylactic mastectomy.


Assuntos
Neoplasias da Mama/prevenção & controle , Mastectomia , Adulto , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Institutos de Câncer , Feminino , Genes BRCA1 , Genes BRCA2 , Humanos , Mastectomia/psicologia , Pessoa de Meia-Idade , Mutação/genética , Equipe de Assistência ao Paciente , Educação de Pacientes como Assunto/normas , Satisfação do Paciente , Cuidados Pós-Operatórios/normas , Pesquisa Qualitativa , Melhoria de Qualidade/normas , Qualidade de Vida , Quebeque , Estudos Retrospectivos
18.
Eur J Hum Genet ; 21(7): 719-24, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23169493

RESUMO

Identifying a strategy that would optimize both the communication and understanding of the individual breast cancer risk remains a considerable challenge. This study explored the preferences of women with a family history of breast cancer about six presentation formats of individual breast cancer risk, as calculated from a risk prediction model. Thirty-four unaffected women attending genetic counseling because of a family history of breast cancer participated in six focus groups conducted in Québec City (2), Montréal (2) and Toronto (2), Canada. Six risk formats were presented for a fictitious case involving a 35-year-old woman (1-numerical: cumulative risk probabilities by age until 80 years; 2-risk curves: probabilities expressed in a risk curve that also provided a risk curve for a woman with no family history in first-degree relatives; 3-relative risk of breast cancer by age 80 years; 4 and 5-absolute risk of breast cancer and absolute chance of not developing breast cancer in the next 20 years; 6-qualitative: color-coded figure). Participants were asked to indicate their appreciation of each format. A group discussion followed during which participants commented on each format. The most and least appreciated formats were risk curves and relative risk, respectively. Overall, participants advocated the use of formats that combine quantitative, qualitative and visual features. Using a combination of approaches to communicate individual breast cancer risks could be associated with higher satisfaction of counselees. Given the increasing use of risk prediction models, it may be relevant to consider the preferences of both the counselee and the professional.


Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Aconselhamento Genético , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/patologia , Canadá , Feminino , Grupos Focais , Humanos , Pessoa de Meia-Idade , Fatores de Risco
19.
Fam Cancer ; 11(1): 27-32, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22080962

RESUMO

Adherence to mammographic screening recommendations following BRCA1/2 testing is generally assessed through self-reports. However, the validity of self-reported mammography by women who had undergone BRCA1/2 genetic testing is still unknown. This study aimed to assess the validity of self-reported mammography use in the past 12 months among women who had undergone BRCA1/2 testing. Using a self-administered questionnaire, 307 women who never had cancer were asked 1 year following BRCA1/2 test result disclosure whether they undergone a mammography in the past 12 months. For each participant, this information was compared to that provided by the Quebec Health Insurance Board administrative data set for mammography claims during the same period, here considered as the gold standard. Sensitivity (Sn), specificity (Sp), predictive values, and Cohen's kappa (κ) were calculated. The robustness of these estimates was assessed using sensitivity analysis in which we varied the administrative data time lapses up to 18 months. Overall, the agreement between self-reports and administrative data was 88% (κ = 0.74). Among the 180 participants who had a mammography according to the administrative data, 172 adequately reported this information (Sn = 96%). Sp was moderate (76%), meaning that 24% of those who did not have a mammography reported one. Extending the time lapses to 18 months increased the Sp substantially (Sp = 90%). Self-report overestimates the use of mammography, mainly because women tend to minimize the elapsed time since their last mammography. Self-reports should be used cautiously to assess adherence to mammographic screening following BRCA1/2 testing.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/genética , Testes Genéticos , Mamografia/estatística & dados numéricos , Mutação/genética , Autorrelato , Adulto , Idoso , Idoso de 80 Anos ou mais , Detecção Precoce de Câncer , Feminino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Inquéritos e Questionários , Adulto Jovem
20.
Eur J Hum Genet ; 19(5): 494-9, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21248744

RESUMO

We described and compared breast and ovarian screening practices in the 2-year period following test result disclosure in female non-carriers from BRCA1/2 mutation-positive families living in two countries, France and Quebec, Canada, which provide universal health care. Four hundred and two (France n=293; Quebec n=109) unaffected female non-carriers from BRCA-proven mutation families provided information about the uptake of mammography, clinical breast examination, breast self-examination, and ovarian ultrasounds using self-administered questionnaires. The frequency of screening practices between study cohorts were compared using logistic regression. Annual mammography was conducted in 23 and 43% of French and Quebecer women participants <50 years of age, respectively (adjusted odds ratio (aOR)=2.72; 95% confidence interval (CI), 1.08-6.81). In women ≥ 50 years of age, mammography was conducted in 49 and 65% of French and Quebecer participants (aOR=1.77; 95% CI, 0.07-4.51). Overall, 33% of French women and 39% of Quebecer women underwent at least one ovarian ultrasound during the 2-year period following BRCA1/2 test result with no significant difference between cohorts of women < 50 years of age. Among older women, Quebecers reported more frequently than French women that they had undergone ultrasound once (aOR=3.00; 95% CI, 1.02-8.83). The frequency of cancer screening practices for female non-carriers from BRCA1/2 mutation-positive families in both France and Quebec exceeded those recommended for similarly aged women in the general population. Our findings highlight the need for clearcut recommendations on the follow-up of women from BRCA1/2 families who are not themselves carriers of a BRCA1/2 mutation.


Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Detecção Precoce de Câncer/estatística & dados numéricos , Genes BRCA1 , Genes BRCA2 , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Adulto , Estudos de Coortes , Família , Feminino , Seguimentos , França , Humanos , Pessoa de Meia-Idade , Quebeque
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