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1.
J Clin Oncol ; : JCO1901472, 2019 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-31479306

RESUMO

PURPOSE: To update the ASCO guideline on pharmacologic interventions for breast cancer risk reduction and provide guidance on clinical issues that arise when deciding to use endocrine therapy for breast cancer risk reduction. METHODS: An Expert Panel conducted targeted systematic literature reviews to identify new studies. RESULTS: A randomized clinical trial that evaluated the use of anastrozole for reduction of estrogen receptor-positive breast cancers in postmenopausal women at increased risk of developing breast cancer provided the predominant basis for the update. UPDATED RECOMMENDATIONS: In postmenopausal women at increased risk, the choice of endocrine therapy now includes anastrozole (1 mg/day) in addition to exemestane (25 mg/day), raloxifene (60 mg/day), or tamoxifen (20 mg/day). The decision regarding choice of endocrine therapy should take into consideration age, baseline comorbidities, and adverse effect profiles. Clinicians should not prescribe anastrozole, exemestane, or raloxifene for breast cancer risk reduction to premenopausal women. Tamoxifen 20 mg/day for 5 years is still considered standard of care for risk reduction in premenopausal women who are at least 35 years old and have completed childbearing. Data on low-dose tamoxifen as an alternative to the standard dose for both pre- and postmenopausal women with intraepithelial neoplasia are discussed in the Clinical Considerations section of this article. Additional information is available at www.asco.org/breast-cancer-guidelines.

3.
Artigo em Inglês | MEDLINE | ID: mdl-31317348

RESUMO

INTRODUCTION: Bilateral reduction mammoplasty is one of the most common plastic surgery procedures performed in the U.S. This study examines the incidence, management, and prognosis of incidental breast cancer identified in reduction specimens from a large cohort of reduction mammoplasty patients. METHODS: Breast pathology reports were retrospectively reviewed for evidence of incidental cancers in bilateral reduction mammoplasty specimens from five institutions between 1990 and 2017. RESULTS: A total of 4804 women met the inclusion criteria of this study; incidental cancer was identified in 45 breasts of 39 (0.8%) patients. Six patients (15%) had bilateral cancer. Overall, the maximum diagnosis by breast was 16 invasive cancers and 29 ductal carcinomas in situs. Thirty-three patients had unilateral cancer, 15 (45.5%) of which had high-risk lesions in the contralateral breast. Twenty-one patients underwent mastectomy (12 bilateral and nine unilateral), residual cancer was found in 10 in 25 (40%) therapeutic mastectomies. Seven patients did not undergo mastectomy received breast radiation. The median follow-up was 92 months. No local recurrences were observed in the patients undergoing mastectomy or radiation. Three of 11 (27%) patients who did not undergo mastectomy or radiation developed a local recurrence. The overall survival rate was 87.2% and disease-free survival was 82.1%. CONCLUSIONS: Patients undergoing reduction mammoplasty for macromastia have a small but definite risk of incidental breast cancer. The high rate of bilateral cancer, contralateral high-risk lesions, and residual disease at mastectomy mandates thorough pathologic evaluation and careful follow-up of these patients. Mastectomy or breast radiation is recommended for local control given the high likelihood of local recurrence without either.

4.
Plast Reconstr Surg ; 144(1): 12-20, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31246791

RESUMO

BACKGROUND: Pathogenic mutations have been identified in approximately 10 percent of patients who present with breast cancer. Notably, failure to identify deleterious genetic mutations has particular implications for patients undergoing abdominally based breast reconstruction, as the donor site can be used only once. The authors sought to determine: (1) how many patients underwent genetic testing before unilateral abdominally based free flap breast reconstruction; (2) how often deleterious mutations were detected after abdominally based free flap breast reconstruction; and (3) the cost-effectiveness of expanding genetic testing in this patient population. METHODS: The authors retrospectively identified all patients who underwent unilateral abdominally based free flap breast reconstruction at Brigham and Women's Hospital/Dana-Farber Cancer Institute between 2007 and 2016. Chart review was performed to collect relevant demographic and clinical data. Relevant hospital financial data were obtained. RESULTS: Of the 713 who underwent free flap breast reconstruction, 160 patients met inclusion criteria, and mean follow-up was 5.8 years. Three patients (1.9 percent of 160) underwent contralateral surgery after completing reconstruction, two of whom had BRCA2 and one with ATM mutation. One hundred eleven patients met National Comprehensive Cancer Network guidelines for genetic testing, but of those only 55.9 percent (62 patients) were tested. Financial data revealed that testing every patient in the cohort would result in a net savings of $262,000. CONCLUSIONS: During a relatively short follow-up period, a small percentage of patients were diagnosed with pathogenic mutations and underwent contralateral mastectomy and reconstruction. However, because of the costliness of surgery and the decreased cost of genetic testing, it is cost-effective to test every patient before unilateral abdominally based free flap breast reconstruction.

5.
Hum Mutat ; 2019 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-31112363

RESUMO

BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review of the published literature and publicly available databases reporting BRCA1/2 PSVs also accessed the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) database to identify African or African descent individuals. Using these data, we inferred which of the BRCA PSVs were likely to be of African continental origin. Of the 43,817 BRCA1/2 PSV carriers in the CIMBA database, 469 (1%) were of African descent. Additional African descent individuals were identified in public databases (n = 291) and the literature (n = 601). We identified 164 unique BRCA1 and 173 unique BRCA2 PSVs in individuals of African ancestry. Of these, 83 BRCA1 and 91 BRCA2 PSVs are of likely or possible African origin. We observed numerous differences in the distribution of PSV type and function in African origin versus non-African origin PSVs. Research in populations of African ancestry with BRCA1/2 PSVs is needed to provide the information needed for clinical management and decision-making in African descent individuals worldwide.

6.
Proc Natl Acad Sci U S A ; 116(23): 11437-11443, 2019 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-31110002

RESUMO

Limited knowledge of the changes in estrogen receptor (ER) signaling during the transformation of the normal mammary gland to breast cancer hinders the development of effective prevention and treatment strategies. Differences in estrogen signaling between normal human primary breast epithelial cells and primary breast tumors obtained immediately following surgical excision were explored. Transcriptional profiling of normal ER+ mature luminal mammary epithelial cells and ER+ breast tumors revealed significant difference in the response to estrogen stimulation. Consistent with these differences in gene expression, the normal and tumor ER cistromes were distinct and sufficient to segregate normal breast tissues from breast tumors. The selective enrichment of the DNA binding motif GRHL2 in the breast cancer-specific ER cistrome suggests that it may play a role in the differential function of ER in breast cancer. Depletion of GRHL2 resulted in altered ER binding and differential transcriptional responses to estrogen stimulation. Furthermore, GRHL2 was demonstrated to be essential for estrogen-stimulated proliferation of ER+ breast cancer cells. DLC1 was also identified as an estrogen-induced tumor suppressor in the normal mammary gland with decreased expression in breast cancer. In clinical cohorts, loss of DLC1 and gain of GRHL2 expression are associated with ER+ breast cancer and are independently predictive for worse survival. This study suggests that normal ER signaling is lost and tumor-specific ER signaling is gained during breast tumorigenesis. Unraveling these changes in ER signaling during breast cancer progression should aid the development of more effective prevention strategies and targeted therapeutics.

7.
An. psicol ; 35(2): 300-313, mayo 2019. tab, graf
Artigo em Inglês | IBECS | ID: ibc-181692

RESUMO

This study addressed the development and evaluation of the Smile Program whose main objective was the prevention of depression and the promotion of well-being in adolescents. The program is based on interventions that have been shown to be efficacious (a cognitive-behavioral approach). Participants were 89 adolescents (mean age = 13.88 years; SD = 0.95) recruited from a sample of 1212 students from seven schools. Results showed a significant reduction in self-reported depressive symptoms in the intervention group (n= 51) as compared to youth in the control group (n= 38). Based on parents' report (n=56), youth in the intervention group had significantly better self-esteem at post-test as compared to youth in the control group. At four months post intervention, youth in the intervention group had higher psychological well-being than those in the control group; at the 8-month follow-up, youth in the intervention condition reported better family self-concept


Este estudio consistió en describir el desarrollo y la evaluación del Programa Sonrisa cuyo principal objetivo fue la prevención de la depresión y la promoción del bienestar en adolescentes. El programa se basa en intervenciones que han demostrado ser eficaces (enfoque cognitivo-conductual). Los participantes fueron 89 adolescentes (edad media = 13,88 años, SD = 0,95) reclutados de una muestra de 1212 estudiantes de 7 escuelas. Los resultados de los autoinformes de los adolescentes mostraron una reducción significativa en los síntomas depresivos en el grupo de intervención (n = 51) en comparación con los adolescentes del grupo control (n = 38). Respecto a los cuestionarios de los padres (n = 56), se halló que los adolescentes en el grupo de intervención tuvieron una autoestima significativamente mejor en el postest en comparación con los del grupo control. Cuatro meses después del programa, los adolescentes del grupo de intervención tenían un mayor bienestar psicológico que los del grupo de control y , en el seguimiento de 8 meses, los adolescentes de la condición de intervención informaron de un mejor autoconcepto familiar


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Depressão/prevenção & controle , Promoção da Saúde/métodos , Comportamento do Adolescente/psicologia , Depressão/psicologia , Programas Gente Saudável/organização & administração , Avaliação de Programas e Projetos de Saúde , Programas Nacionais de Saúde/organização & administração , Estudos de Casos e Controles , Avaliação de Eficácia-Efetividade de Intervenções , Relações Pais-Filho , Pais/psicologia
8.
Genet Med ; 2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31105275

RESUMO

PURPOSE: Panel testing has led to the identification of TP53 pathogenic/likely pathogenic (P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype-phenotype associations among TP53+ panel-ascertained subjects. METHODS: Between 2012 and 2017, 317 TP53+ subjects (279 females and 38 males) identified through panel testing at one testing laboratory were found to have evaluable clinical histories and molecular results. Subject cancer histories were obtained from test requisition forms. P/LP variants were categorized by type and were examined in relation to phenotype. RESULTS: Loss-of-function (LOF) variants were associated with the earliest age at first cancer, with a median age of 30.5 years (P = 0.014); increased frequency of a sarcoma diagnosis (P = 0.016); and more often meeting classic LFS testing and Chompret 2015 criteria (P = 0.004 and 0.002 respectively), as compared with dominant-negative missense, other missense, or miscellaneous (splice or in-frame deletion) P/LP variant categories. CONCLUSION: Loss-of-function variants were more often associated with characteristic LFS cancer histories than other variant categories in TP53+ carriers ascertained through multigene panel testing. These findings require validation in other TP53+ cohorts. Genetic counseling for panel-ascertained TP53+ individuals should reflect the dynamic expansion of the Li-Fraumeni syndrome phenotype.

9.
Patient Educ Couns ; 102(8): 1558-1564, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31010603

RESUMO

PURPOSE: To develop and evaluate a measure of cancer genetics knowledge relevant to multigene panel testing. METHODS: The instrument was developed using systematic input from a national panel of genetics experts, acceptability evaluation by patient advocates, and cognitive testing. Twenty-four candidate items were completed by 591 breast or gynecological patients who had undergone genetic counseling and multigene panel testing in the past 18 months. A unidimensional item response theory model was fit with a mix of 2-parameter logistic nested response (2 plnrm) and 2-parameter logistic (2 pl) items. RESULTS: Key domains addressing cancer genetics knowledge were found to be overlapping. Of the 24 candidate items, 8 items were removed due to poor discrimination or local dependence. The remaining 16 items had good fit (RMSEA = 0.045, CFI = 0.946) and discrimination parameters ranging from 0.49 to 1.60. The items specified as 2 plnrm distinguish between those answering incorrect versus don't know, with discrimination ranging from 0.51 to 1.02. Information curves were highest among those with lower knowledge. CONCLUSION: KnowGene is a rigorously developed and effective measure of knowledge after cancer genetic counseling and multigene panel testing. PRACTICE IMPLICATIONS: Measuring knowledge in a systematic way will inform practice and research initiatives in cancer genetics.

10.
Psychiatr Serv ; 70(4): 279-286, 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30929618

RESUMO

OBJECTIVE:: Youth depression can be prevented, yet few programs are offered. Decision makers lack cost information. This study evaluated the cost-effectiveness of a cognitive-behavioral prevention program (CBP) versus usual care. METHODS:: A cost-effectiveness analysis was conducted with data from a randomized controlled trial of 316 youths, ages 13-17, randomly assigned to CBP or usual care. Youths were at risk of depression because of a prior depressive disorder or subthreshold depressive symptoms, or both, and had parents with a prior or current depressive disorder. Outcomes included depression-free days (DFDs), quality-adjusted life years (QALYs), and costs. RESULTS:: Nine months after baseline assessment, youths in CBP experienced 12 more DFDs (p=.020) and .018 more QALYs (p=.007), compared with youths in usual care, with an incremental cost-effectiveness ratio (ICER) of $24,558 per QALY. For youths whose parents were not depressed at baseline, CBP youths had 26 more DFDs (p=.001), compared with those in usual care (ICER=$10,498 per QALY). At 33 months postbaseline, youths in CBP had 40 more DFDs (p=.05) (ICER=$12,787 per QALY). At 33 months, CBP youths whose parents were not depressed at baseline had 91 more DFDs (p=.001) (ICER=$13,620 per QALY). For youths with a currently depressed parent at baseline, CBP was not significantly more effective than usual care at either 9 or 33 months, and costs were higher. CONCLUSIONS:: CBP produced significantly better outcomes than usual care and was particularly cost-effective for youths whose parents were not depressed at baseline. Depression prevention programs could improve youths' health at a reasonable cost; services to treat depressed parents may also be warranted.

11.
Cancer ; 2019 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-30933323

RESUMO

BACKGROUND: Inflammatory breast cancer (IBC) is an uncommon and aggressive subtype of breast cancer associated with early disease recurrence and short survival. The prevalence of germline variants in cancer predisposition genes has not been systematically evaluated in women with IBC. METHODS: Among 301 women enrolled in the clinical IBC registry at a single institution between 2010 and 2017, 168 had documented genetic testing. A second cohort of 200 IBC cases who had panel-based germline testing performed through a commercial testing laboratory from 2012 to 2017 was added to the analyses. Personal and family cancer histories and genetic testing results were evaluated when they were available for both cohorts. RESULTS: Among 501 IBC cases, 368 had documented genetic testing. Germline mutations (56 total) were identified in 53 cases (14.4%). BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer. The prevalence of mutations was 24% (22 of 92) among women with triple-negative IBC, 13% (13 of 99) among women with estrogen receptor- and/or progesterone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative disease, and 9.3% (10 of 108) among women with HER2-positive IBC. CONCLUSIONS: The prevalence and diversity of germline genetic mutations among patients with IBC suggest that further studies should be performed to assess the role of inherited mutations in IBC carcinogenesis in comparison with non-IBC breast cancer. Since IBC has a high metastatic potential associated with poor prognostic outcomes, proposed future studies may also inform targeted treatment options.

12.
J Clin Child Adolesc Psychol ; : 1-11, 2019 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-30908080

RESUMO

Children of parents with depression are at increased risk for developing psychopathology. The purpose of the current longitudinal study was to examine the dynamic relations between parents' depressive symptoms and children's cognitions, specifically their attributions for the causes of life events. Participants were 227 parent-child dyads with one parent (Mage = 42.19, SD = 6.82; 76% female) and one child (Mage = 12.53, SD = 2.33; 53% female) per family. Parents either were diagnosed with a current major depressive disorder (n = 129; 72.9% female) or were lifetime-free of mood disorders (n = 98; 79.6% female). The Beck Depression Inventory-II was used to obtain a dimensional measure of parents' depressive symptoms, and the Children's Attributional Style Questionnaire-Revised was used to assess children's attributions of negative and positive events. Evaluations were conducted 5 times across 22 months. We used latent difference score (LDS) modeling to examine the relations between changes in parents' depressive symptoms and changes in children's attributional style over time. The final model provided a close fit to the data: χ2(30) = 35.22, p = .24; comparative fit index = .995, root mean square error of approximation = .028, 90% confidence interval (CI) [.000, .060], standardized root mean square residual = .024. Parents' levels of depressive symptoms significantly predicted the worsening of children's attributions (i.e., becoming more pessimistic) over the 22 months, whereas children's attributions did not significantly predict changes in parents' depressive symptoms at the next time point. Preventive interventions should aim to both reduce parents' depression and teach children strategies for examining the accuracy of their beliefs regarding the causes of life events.

13.
J Exp Child Psychol ; 182: 151-165, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30826468

RESUMO

Feedback that young children receive from others can affect their emotions and emerging self-views. The current experiment tested the effect of negative content (criticism) and negative tone (hostile) of the feedback on children's affect, self-evaluations, and attributions. We also explored whether maternal history of depression and children's temperament moderated these relations. Participants were 152 mothers and children (48% girls) aged 4 and 5 years (M = 61.6 months, SD = 6.83). The task involved three scenarios enacted by dolls; a child doll made something (e.g., picture, house, numbers) that had a mistake (e.g., no windows on the house) and proudly showed it to the mother doll, who then gave feedback (standardized, audio recorded) to the child. Children were randomized to one of four maternal feedback conditions: negative or neutral content in either a negative or neutral tone. Negative content (criticism) produced significantly more negative affect and lower self-evaluations than neutral content. When the tone of the feedback was hostile, children of mothers who had been depressed during the children's lifetimes were significantly more likely to make internal attributions for mistakes than children of nondepressed mothers. In addition, among children with low temperamental negative affectivity, in the presence of negative tone, negative content significantly predicted more internal attributions for the errors. Findings are discussed in terms of understanding the role of evaluative feedback in children's emerging social cognitions and affect.

14.
Child Abuse Negl ; 90: 127-138, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30776738

RESUMO

Rates of substantiated child abuse and neglect vary significantly across counties. Despite strong cross-sectional support for links between social-contextual characteristics and abuse and neglect, few longitudinal studies have tested relations between these risk factors and substantiated rates of abuse/neglect. The goal of this study was to identify county-level socioeconomic and crime factors associated with substantiated abuse/neglect rates over 13 years (2004-2016). Annual county-level data for Tennessee, obtained from the KIDS COUNT Data Center, included rates of substantiated child abuse and neglect, children's race and ethnicity, births to unmarried women, teen birth rate, children in families receiving Supplemental Nutrition Assistance Program (SNAP) benefits, and children in families receiving Temporary Assistance for Needy Families. Annual county-level crime report data, obtained from the Tennessee Incident Based Reporting System, included sexual offenses, non-sexual assaults, stalking incidents, thefts, property damage, and drug-related offenses. Bayesian spatio-temporal models indicated that substantiated child abuse and neglect rates were independently and positively associated with teen birth rates, percentages of births to unmarried mothers, drug-related offenses, and percentages of children receiving SNAP benefits. In contrast, substantiated child abuse and neglect rates were negatively associated with percentages of African-American youth. The findings highlighted distinct demographic, socioeconomic, and crime factors associated with substantiated child abuse and neglect rates and have the potential to enhance identification of high-risk counties that could benefit from targeted abuse and neglect prevention efforts.

15.
J Genet Couns ; 28(3): 708-716, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30680866

RESUMO

Transgender individuals comprise a growing patient population in genetic counseling practice. The identification of a pathogenic variant in a cancer susceptibility gene may impact a transgender person's decisions regarding hormonal and/or surgical transition. Limited scientific literature exists on specific genetic counseling needs and medical management strategies for transgender individuals. In addition, most genetic counselors have had limited experience and training in conducting genetic counseling sessions with transgender patients. In this report, we describe three cases of transgender individuals who underwent genetic counseling and testing in our clinic. All were at ≥50% risk to carry a familial BRCA1 pathogenic variant. Case 1 is a 20-year-old transgender female initiating hormonal agents. Case 2 is a 19-year-old transgender male considering surgical decisions who has a BRCA1 pathogenic variant on both sides of the family. Case 3 is a 24-year-old transgender male who had previously undergone gender-affirming mastectomy (top surgery) and is taking androgen therapy. Unique aspects of genetic testing, psychosocial counseling, and medical management of transgender individuals have arisen in the course of their care. In this report, we discuss our experiences and practices of case preparation, case management, appropriate genetic testing, and medical management such as screening, surgical decisions, and coordination of care. There is a need for more research in this area and more transgender-specific training for genetic counselors.

16.
Breast Cancer Res Treat ; 175(1): 1-4, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30666539

RESUMO

PURPOSE: Atypical ductal hyperplasia (ADH) significantly increases the risk of breast cancer in women. However, little is known about the implications of ADH in men. METHODS: Review of 932 males with breast pathology was performed to identify cases of ADH. Patients were excluded if ADH was upgraded to cancer on excision, or if they had contralateral breast cancer. Cases were reviewed to determine whether any male with ADH developed breast cancer. RESULTS: Nineteen males were diagnosed with ADH from June 2003 to September 2018. All had gynecomastia. Surgical procedure was mastectomy in 8 patients and excision/reduction in 11. One patient had their nipple areola complex removed, and 1 required a free nipple graft. Median patient age at ADH diagnosis was 25 years (range 18-72 years). Of the 14 patients with bilateral gynecomastia, 10 had bilateral ADH and 4 had unilateral. Five cases of ADH were described as severe, bordering on ductal carcinoma in situ. No patient reported a family history of breast cancer. No patient took tamoxifen. At a mean follow-up of 75 months (range 4-185 months), no patient developed breast cancer. CONCLUSION: Our study is the first to provide follow-up information for males with ADH. With 6 years of mean follow-up, no male in our series has developed breast cancer. This suggests that either ADH in men does not pose the same risk as ADH in women or that surgical excision of symptomatic gynecomastia in men effectively reduces the risk of breast cancer.


Assuntos
Ginecomastia/epidemiologia , Ginecomastia/patologia , Glândulas Mamárias Humanas/patologia , Adolescente , Adulto , Idoso , Neoplasias da Mama Masculina/epidemiologia , Neoplasias da Mama Masculina/etiologia , Neoplasias da Mama Masculina/patologia , Carcinoma Ductal de Mama/epidemiologia , Carcinoma Ductal de Mama/etiologia , Seguimentos , Ginecomastia/cirurgia , Humanos , Hiperplasia , Masculino , Mastectomia , Pessoa de Meia-Idade , Vigilância em Saúde Pública , Risco , Adulto Jovem
17.
Breast Cancer Res Treat ; 175(1): 229-237, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30666540

RESUMO

PURPOSE: Existing high-risk clinic models focus on patients with known risk factors, potentially missing many high-risk patients. Here we describe our experience implementing universal risk assessment in an ambulatory breast center. METHODS: Since May 2017, all breast center patients completed a customized intake survey addressing known breast cancer risk factors and lifestyle choices. Patient characteristics, family history, risk scores, and lifestyle factors were examined; patients with high-risk breast lesions were excluded. Patients were considered at increased risk by model thresholds Gail 5-year risk > 1.7% (35-59 years), Gail 5-year risk > 5.5% (≥ 60 years), or Tyrer-Cuzick (T-C) v7 lifetime risk > 20% (any age). RESULTS: From May 2017-April 2018, there were 874 eligible patients-420 (48%) referred for risk assessment (RA) and 454 (52%) for non-specific breast complaints (NSBC). Overall, 389 (45%) were at increased risk of breast cancer. Gail 5-year risks were similar between RA and NSBC patients. However, RA patients more frequently met criteria by T-C score (P = 0.02). Of all patients at increased risk, 149 (39%) were overweight (BMI > 25) or obese (BMI > 30) and only 159 (41%) met recommended exercise standards. NSBC patients who met criteria were more frequently smokers (8% vs 1%, P < 0.01); all other demographic/lifestyle factors were similar among high-risk patients regardless of referral reason. CONCLUSIONS: Universal risk assessment in a comprehensive breast health center identified 45% of our population to be at increased risk of breast cancer. This clinical care model provides a unique opportunity to identify and address modifiable risk factors among women at risk.


Assuntos
Assistência Ambulatorial , Neoplasias da Mama/epidemiologia , Modelos Estatísticos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/etiologia , Neoplasias da Mama/prevenção & controle , Feminino , Humanos , Pessoa de Meia-Idade , Vigilância em Saúde Pública , Medição de Risco , Fatores de Risco , Adulto Jovem
18.
PLoS Genet ; 14(12): e1007752, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30586411

RESUMO

The BRCA Challenge is a long-term data-sharing project initiated within the Global Alliance for Genomics and Health (GA4GH) to aggregate BRCA1 and BRCA2 data to support highly collaborative research activities. Its goal is to generate an informed and current understanding of the impact of genetic variation on cancer risk across the iconic cancer predisposition genes, BRCA1 and BRCA2. Initially, reported variants in BRCA1 and BRCA2 available from public databases were integrated into a single, newly created site, www.brcaexchange.org. The purpose of the BRCA Exchange is to provide the community with a reliable and easily accessible record of variants interpreted for a high-penetrance phenotype. More than 20,000 variants have been aggregated, three times the number found in the next-largest public database at the project's outset, of which approximately 7,250 have expert classifications. The data set is based on shared information from existing clinical databases-Breast Cancer Information Core (BIC), ClinVar, and the Leiden Open Variation Database (LOVD)-as well as population databases, all linked to a single point of access. The BRCA Challenge has brought together the existing international Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium expert panel, along with expert clinicians, diagnosticians, researchers, and database providers, all with a common goal of advancing our understanding of BRCA1 and BRCA2 variation. Ongoing work includes direct contact with national centers with access to BRCA1 and BRCA2 diagnostic data to encourage data sharing, development of methods suitable for extraction of genetic variation at the level of individual laboratory reports, and engagement with participant communities to enable a more comprehensive understanding of the clinical significance of genetic variation in BRCA1 and BRCA2.


Assuntos
Bases de Dados Genéticas , Genes BRCA1 , Genes BRCA2 , Variação Genética , Alelos , Neoplasias da Mama/genética , Bases de Dados Genéticas/ética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Disseminação de Informação/ética , Disseminação de Informação/legislação & jurisprudência , Masculino , Mutação , Neoplasias Ovarianas/genética , Penetrância , Fenótipo , Fatores de Risco
19.
J Natl Compr Canc Netw ; 16(11): 1362-1389, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30442736

RESUMO

The NCCN Guidelines for Breast Cancer Screening and Diagnosis have been developed to facilitate clinical decision making. This manuscript discusses the diagnostic evaluation of individuals with suspected breast cancer due to either abnormal imaging and/or physical findings. For breast cancer screening recommendations, please see the full guidelines on NCCN.org.

20.
Artigo em Inglês | MEDLINE | ID: mdl-30238276

RESUMO

PURPOSE: Mammoplasty removes random samples of breast tissue from asymptomatic women providing a unique method for evaluating background prevalence of breast pathology in normal population. Our goal was to identify the rate of atypical breast lesions and cancers in women of various ages in the largest mammoplasty cohort reported to date. METHODS: We analyzed pathologic reports from patients undergoing bilateral mammoplasty, using natural language processing algorithm, verified by human review. Patients with a prior history of breast cancer or atypia were excluded. RESULTS: A total of 4775 patients were deemed eligible. Median age was 40 (range 13-86) and was higher in patients with any incidental finding compared to patients with normal reports (52 vs. 39 years, p = 0.0001). Pathological findings were detected in 7.06% (337) of procedures. Benign high-risk lesions were found in 299 patients (6.26%). Invasive carcinoma and ductal carcinoma in situ were detected in 15 (0.31%) and 23 (0.48%) patients, respectively. The rate of atypias and cancers increased with age. CONCLUSION: The overall rate of abnormal findings in asymptomatic patients undergoing mammoplasty was 7.06%, increasing with age. As these results are based on random sample of breast tissue, they likely underestimate the prevalence of abnormal findings in asymptomatic women.

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