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OBJECTIVE: To assess urologists' knowledge and utilization of family history to determine prostate cancer (PC) screening and treatment recommendations. MATERIALS AND METHODS: Questionnaires that explored urologists' knowledge, frequency, and utilization of family history information for screening and treatment recommendations for PC were prospectively collected. Data were summarized and compared using descriptive statistics. RESULTS: A total of 87 responses were collected, for a response rate of 60% (87 of 145). The majority of urologists reported that they always collect family history when discussing risk (95%) or screening (87%), and recommended earlier screening for men with family history of PC in comparison with men with no family history. Although only 57% reported always collecting family history when discussing treatment, the majority of respondents reported that a positive family history influenced their treatment recommendations. Eight percent of urologists would recommend prostatectomy for men diagnosed with low-grade, low-risk PC and no family history of PC vs 52% who would recommend the same course of treatment when the patient had at least 1 first-degree relative who died of the disease. Conversely, 91% of urologists would recommend active surveillance for men with low-grade, low-risk PC and no family history vs 47% for those with at least 1 first-degree relative who died of the disease. CONCLUSION: The majority of urologists collect information on family history of PC. Despite the lack of literature to support that patients with familial PC require more aggressive treatment, urologists were more likely to recommend definitive therapies.
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Detección Precoz del Cáncer/métodos , Conocimientos, Actitudes y Práctica en Salud , Tamizaje Masivo/métodos , Anamnesis/estadística & datos numéricos , Pautas de la Práctica en Medicina/normas , Neoplasias de la Próstata/diagnóstico , Urólogos/normas , Adulto , Actitud del Personal de Salud , Terapia Combinada , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/terapia , Encuestas y Cuestionarios , Estados Unidos/epidemiologíaRESUMEN
Solar ultraviolet (UV) radiation can cause severe damage to the skin and is the primary cause of most skin cancer. UV radiation causes DNA damage leading to mutations and also activates the Erbb2/HER2 receptor through indirect mechanisms involving reactive oxygen species. We hypothesized that Erbb2 activation accelerates the malignant progression of UV-induced skin cancer. Following the induction of benign squamous papillomas by UV exposure of v-ras(Ha) transgenic Tg.AC mice, mice were treated topically with the Erbb2 inhibitor AG825 and tumor progression monitored. AG825 treatment reduced tumor volume, increased tumor regression, and delayed the development of malignant squamous cell carcinoma (SCC). Progression to malignancy was associated with increased Erbb2 and ADAM12 (A Disintegin And Metalloproteinase 12) transcripts and protein, while inhibition of Erbb2 blocked the increase in ADAM12 message upon malignant progression. Similarly, human SCC and SCC cell lines had increased ADAM12 protein and transcripts when compared to normal controls. To determine whether Erbb2 up-regulation of ADAM12 contributed to malignant progression of skin cancer, Erbb2 expression was modulated in cultured SCC cells using forced over-expression or siRNA targeting, demonstrating up-regulation of ADAM12 by Erbb2. Furthermore, ADAM12 transfection or siRNA targeting revealed that ADAM12 increased both the migration and invasion of cutaneous SCC cells. Collectively, these results suggest Erbb2 up-regulation of ADAM12 as a novel mechanism contributing to the malignant progression of UV-induced skin cancer. Inhibition of Erbb2/HER2 reduced tumor burden, increased tumor regression, and delayed the progression of benign skin tumors to malignant SCC in UV-exposed mice. Inhibition of Erbb2 suppressed the increase in metalloproteinase ADAM12 expression in skin tumors, which in turn increased migration and tumor cell invasiveness.
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Proteínas ADAM/genética , Expresión Génica/genética , Receptor ErbB-2/genética , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Regulación hacia Arriba/genética , Proteína ADAM12 , Animales , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patología , Línea Celular , Línea Celular Tumoral , Daño del ADN/genética , Progresión de la Enfermedad , Humanos , Ratones , Ratones Transgénicos , Piel/patología , Rayos Ultravioleta/efectos adversosRESUMEN
Next-generation sequencing genetic testing panels for cancer susceptibility (cancer panels) have recently become clinically available. At present, clinical utility is unknown and there are no set criteria or guidelines established for whom to offer such testing. Although it may be a cost-effective method to test multiple cancer susceptibility genes concurrently, the rate of finding variants of unknown significance (VUS) may be high and testing may yield mutations in genes with no established management recommendations. We describe our Center's experience over a 14-month period (April 2012-June 2013) for patient interest and uptake in cancer panel testing and whether there were predictors of pursuing testing or identifying mutations. Using a clinical ranking system, patients' family histories were ranked from 0 to 3 (low likelihood to high likelihood for underlying genetic susceptibility). The clinical ranking system was assessed to determine its predictability of finding mutations. Of the 689 patients who met inclusion criteria, the option of pursuing a cancer panel was discussed with 357 patients; 63 (17.6 %) patients pursued testing. Those who pursued testing were more likely to be older, male, affected with cancer, affected with multiple primary cancers, and had a higher clinical rank than non-pursuers. There were no significant predictors of finding a mutation on panel testing. Of the 61 patients who have received results, there was a 6.6 % mutation rate and 19.7 % VUS rate. The yield of cancer panels in clinical practice is low and the strength of family history alone may not predict likelihood of finding a mutation.
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Detección Precoz del Cáncer , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Aceptación de la Atención de Salud , Adulto , Detección Precoz del Cáncer/métodos , Detección Precoz del Cáncer/estadística & datos numéricos , Femenino , Pruebas Genéticas/métodos , Pruebas Genéticas/estadística & datos numéricos , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/genéticaRESUMEN
Cancer genetics professionals face a new opportunity and challenge in adapting to the availability of cancer genetic testing panels, now available as a result of Next Generation Sequencing (NGS) technology. While cancer panels have been available for over a year, we believe that there is not yet enough data to create practice guidelines. Despite this, a year of experience allows us to provide our opinion on points to consider as cancer genetic counselors incorporate this testing technology into genetic counseling practice models. NGS technology offers the ability to potentially diagnose hereditary cancer syndromes more efficiently by testing many genes at once for a fraction of what it would cost to test each gene individually. However, there are limitations and additional risks to consider with these tests. Obtaining informed consent for concurrent testing of multiple genes requires that genetics professionals modify their discussions with patients regarding the potential cancer risks and the associated implications to medical management. We propose dividing the genes on each panel into categories that vary by degree of cancer risk (e.g. penetrance of the syndrome) and availability of management guidelines, with the aim to improve patient understanding of the range of information that can come from this testing. The increased risk for identifying variants of uncertain significance (VUS) when testing many genes at once must be discussed with patients. Pretest genetic counseling must also include the possibility to receive unexpected results as well as the potential to receive a result in the absence of related medical management guidelines. It is also important to consider whether a single gene test remains the best testing option for some patients. As panels expand, it is important that documentation reflects exactly which genes have been analyzed for each patient. While this technology holds the promise of more efficient diagnosis for many of our patients, it also comes with new challenges that we must recognize and address.
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Neoplasias/genética , Análisis de Secuencia/métodos , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Consentimiento Informado , Neoplasias/diagnóstico , Medición de RiesgoRESUMEN
BACKGROUND AND OBJECTIVES: The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigation was to analyze the clinical characteristics of families and individuals with this mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Families with autosomal dominant interstitial kidney disease were referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retrospectively evaluated in individuals with the MUC1 mutation and historically affected individuals (persons who were both related to genetically affected individuals in such a way that ensured that they could be genetically affected and had a history of CKD stage IV or kidney failure resulting in death, dialysis, or transplantation). RESULTS: Twenty-four families were identified with the MUC1 mutation. Of 186 family members undergoing MUC1 mutational analysis, the mutation was identified in 95 individuals, 91 individuals did not have the mutation, and111 individuals were identified as historically affected. Individuals with the MUC1 mutation suffered from chronic kidney failure with a widely variable age of onset of end stage kidney disease ranging from 16 to >80 years. Urinalyses revealed minimal protein and no blood. Ultrasounds of 35 individuals showed no medullary cysts. There were no clinical manifestations of the MUC1 mutation detected in the breasts, skin, respiratory system, or gastrointestinal tract. CONCLUSION: MUC1 mutation results in progressive chronic kidney failure with a bland urinary sediment. The age of onset of end stage kidney disease is highly variable, suggesting that gene-gene or gene-environment interactions contribute to phenotypic variability.
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Mucina-1/genética , Mutación , Riñón Poliquístico Autosómico Dominante/genética , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Análisis Mutacional de ADN , Progresión de la Enfermedad , Femenino , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Humanos , Riñón/fisiopatología , Fallo Renal Crónico/genética , Fallo Renal Crónico/fisiopatología , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Riñón Poliquístico Autosómico Dominante/complicaciones , Riñón Poliquístico Autosómico Dominante/diagnóstico , Riñón Poliquístico Autosómico Dominante/fisiopatología , Sistema de Registros , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores de Tiempo , Adulto JovenRESUMEN
The number of described cancer susceptibility syndromes continues to grow, as does our knowledge on how to manage these syndromes with the aim of early detection and cancer prevention. Oncologists now have greater responsibility to recognize patterns of cancer that warrant referral for a genetics consultation. While some patterns of common cancers are easy to recognize as related to hereditary cancer syndromes, there are a number of rare tumors that are highly associated with cancer syndromes yet are often overlooked given their infrequency. We present a review of ten rare tumors that are strongly associated with hereditary cancer predisposition syndromes: adrenocortical carcinoma, carcinoid tumors, diffuse gastric cancer, fallopian tube/primary peritoneal cancer, leiomyosarcoma, medullary thyroid cancer, paraganglioma/pheochromocytoma, renal cell carcinoma of chromophobe, hybrid oncocytoic, or oncocytoma histology, sebaceous carcinoma, and sex cord tumors with annular tubules. This review will serve as a guide for oncologists to assist in the recognition of rare tumors that warrant referral for a genetic consultation.
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Predisposición Genética a la Enfermedad , Neoplasias/genética , Enfermedades Raras/genética , Derivación y Consulta , HumanosRESUMEN
OBJECTIVES: The objective of this study was to examine the association between tobacco and alcohol dose and type and the age of onset of pancreatic adenocarcinoma (PancCa). METHODS: Prospective data from the Pancreatic Cancer Collaborative Registry were used to examine the association between age of onset and variables of interest including: gender, race, birth country, educational status, family history of PancCa, diabetes status, and tobacco and alcohol use. Statistical analysis included logistic and linear regression, Cox proportional hazard regression, and time-to-event analysis. RESULTS: The median age to diagnosis for PancCa was 66.3 years (95% confidence intervals (CIs), 64.5-68.0). Males were more likely than females to be smokers (77% vs. 69%, P=0.0002) and heavy alcohol and beer consumers (19% vs. 6%, 34% vs. 19%, P<0.0001). In univariate analysis for effects on PancCa presentation age, the following were significant: gender, alcohol and tobacco use (amount, status and type), family history of PancCa, and body mass index. Both alcohol and tobacco had dose-dependent effects. In multivariate analysis, alcohol status and dose were independently associated with increased risk for earlier PancCa onset with greatest risk occurring in heavy drinkers (HR 1.62, 95% CI 1.04-2.54). Smoking status had the highest risk for earlier onset pancreatic cancer with a HR of 2.69 (95% CI, 1.97-3.68) for active smokers and independent effects for dose (P=0.019). The deleterious effects for alcohol and tobacco appear to resolve after 10 years of abstinence. CONCLUSIONS: Alcohol and tobacco use are associated with a dose-related increased risk for earlier age of onset of PancCa. Although beer drinkers develop pancreatic cancer at an earlier age than nondrinkers, alcohol type did not have a significant effect after controlling for alcohol dose.
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Adenocarcinoma/epidemiología , Consumo de Bebidas Alcohólicas/efectos adversos , Neoplasias Pancreáticas/epidemiología , Fumar/efectos adversos , Edad de Inicio , Anciano , Índice de Masa Corporal , Distribución de Chi-Cuadrado , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Estudios Prospectivos , Sistema de Registros , Factores de RiesgoRESUMEN
Historically, physicians have expressed concern about their patients' risk of genetic discrimination, which has acted as a barrier to uptake of genetic services. The Genetic Information Nondiscrimination Act of 2008 (GINA) is intended to protect patients against employer and health insurance discrimination. Physicians' awareness and knowledge of GINA has yet to be evaluated. In 2009, we mailed surveys to 1500 randomly selected members of the American Academy of Family Physicians. Questions measured physicians' current knowledge of GINA and their level of concern for genetic discrimination. In total, 401 physicians completed the survey (response rate 26.9%). Approximately half (54.5%) of physicians had no awareness of GINA. Of physicians who reported basic knowledge of GINA, the majority were aware of the protections offered for group health insurance (92.7%), private health insurance (82.9%), and employment (70.7%). Fewer physicians were aware of GINA's limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Physicians demonstrated highest levels of concern for health insurance, life insurance, and long-term care insurance discrimination, with less concern for employer and family/social discrimination. Level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA. Approximately 17 months after GINA was signed into federal law, physicians' knowledge remained limited regarding the existence of this legislation and relevant details. Physicians who are aware of GINA continue to have significant concerns regarding the risk of genetic discrimination. This study reveals the need to further educate physicians about the existence of GINA and the protections offered.
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Concienciación , Médicos de Familia/psicología , Prejuicio , Humanos , Estados UnidosRESUMEN
Few studies examine the use of family history to influence risk perceptions in the African American population. This study examined the influence of a family health history (FHH) intervention on risk perceptions for breast (BRCA), colon (CRC), and prostate cancers (PRCA) among African Americans in Pittsburgh, PA. Participants (n = 665) completed pre- and post-surveys and FHHs. We compared their objective and perceived risks, classified as average, moderate, or high, and examined the accuracy of risk perceptions before and after the FHH intervention. The majority of participants had accurate risk perceptions post-FHH. Of those participants who were inaccurate pre-FHH, 43.3%, 43.8%, and 34.5% for BRCA, CRC, and PRCA, respectively, adopted accurate risk perceptions post-FHH intervention. The intervention was successful in a community setting. It has the potential to lead to healthy behavior modifications because participants adopted accurate risk perceptions. We identified a substantial number of at-risk individuals who could benefit from targeted prevention strategies, thus decreasing racial/ethnic cancer disparities.
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Negro o Afroamericano/psicología , Predisposición Genética a la Enfermedad , Neoplasias/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/psicología , Pennsylvania , Factores de RiesgoRESUMEN
Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference. Specific topics include familiarizing prospective authors, particularly genetic counseling students, with the basics of the publication process and related ethical considerations. Former students' experiences with publishing master's theses also are described in hopes of encouraging new genetic counselors to submit for publication papers based on their thesis projects.
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Autoria , Educación de Postgrado , Asesoramiento Genético , Edición , Curriculum , Ética Profesional , Humanos , Periodismo , Mentores , Revisión de la Investigación por Pares , Publicaciones Periódicas como Asunto , InvestigaciónRESUMEN
Mutations in BRCA1 and BRCA2 increase a woman's lifetime risk of developing breast cancer by 43% to 84%. It was originally postulated that BRCA1/2-associated breast cancers develop more rapidly than sporadic cancers and may lack preinvasive lesions. More recent studies have found preinvasive lesions in prophylactic mastectomy specimens from mutation carriers; however, there is little information on the presence of preinvasive lesions in tissue adjacent to breast cancers. Our aim is to investigate the role of preinvasive lesions in BRCA-associated breast carcinogenesis. We retrospectively compared BRCA1/2-associated breast cancers and sporadic breast cancers for the prevalence of preinvasive lesions [ductal carcinoma in situ (DCIS), lobular carcinoma in situ, and atypical lobular hyperplasia] in tissue adjacent to invasive breast cancers. Pathology was reviewed for 73 BRCA1/2-associated tumors from patients with breast cancer. We selected 146 patients with mutation-negative breast cancer as age-matched controls. Among the BRCA1/2-associated breast cancers, 59% had at least one associated preinvasive lesion compared with 75% of controls. Preinvasive lesions were more prevalent in BRCA2 mutation carriers than in BRCA1 mutation carriers (70% versus 52%, respectively). The most common preinvasive lesion in both groups was DCIS; 56% of BRCA1/2-associated breast cancers and 71% of the sporadic breast cancers had adjacent intraductal disease, respectively. Preinvasive lesions, most notably DCIS, are common in BRCA1/2-associated breast cancers. These findings suggest that BRCA1/2-associated breast cancers progress through the same intermediate steps as sporadic breast cancers, and that DCIS should be considered as a part of the BRCA1/2 tumor spectrum.
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Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Carcinoma in Situ/genética , Mutación/genética , Adulto , Anciano , Neoplasias de la Mama/patología , Carcinoma in Situ/patología , Carcinoma Ductal de Mama/genética , Carcinoma Ductal de Mama/patología , Carcinoma Lobular/genética , Carcinoma Lobular/patología , Carcinoma Medular/genética , Carcinoma Medular/patología , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
BACKGROUND: The likelihood of identifying a BRCA mutation was often calculated using the BRCAPRO model. A previous study suggested that this model may overestimate the chance of detecting a BRCA mutation among women diagnosed with bilateral breast cancer. Studies also suggested that few patients with bilateral breast cancer whose age at first diagnosis is >40 years were mutation carriers. The objectives of this study were to determine the accuracy of the BRCAPRO model among women with bilateral breast cancer and to determine whether their mutation status was dependent on their age at first diagnosis. METHODS: A retrospective chart review was performed. Women who were diagnosed with bilateral or unilateral breast cancer and who had undergone comprehensive BRCA1 and BRCA2 genetic testing at M. D. Anderson Cancer Center between 1997 and 2006 were included in the study. RESULTS: For individuals with pre-test carrier probabilities >31%, the proportion of positive tests was significantly lower than predicted by the BRCAPRO model (P < .05). In addition, the carrier rate of BRCA mutations was significantly higher (P = .002, Fisher exact test) in women with bilateral breast cancer whose age at first diagnosis was
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Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Simulación por Computador , Mutación/genética , Adulto , Anciano , Neoplasias de la Mama/cirugía , Femenino , Lateralidad Funcional , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Persona de Mediana Edad , Modelos Estadísticos , Probabilidad , Pronóstico , Estudios Retrospectivos , Adulto JovenRESUMEN
OBJECTIVE: Li-Fraumeni syndrome (LFS) confers an increased risk of multiple types of cancer in both children and adults. Clinical genetic testing for deleterious germline p53 gene mutations can identify most LFS-affected families. We evaluated factors associated with cancer-specific distress and perceived self-efficacy in coping with a positive genetic test result among persons at risk of having deleterious p53 mutations. METHODS: One hundred thirty-five persons from 15 LFS-affected families were invited to take part in a study that offered p53 genetic counseling and testing and to complete psychosocial measures. RESULTS: Participants (n=92) were more likely to be younger and female than nonparticipants (n=43). In multivariate analyses, greater cancer-specific distress was associated with having a lower quality of life, a higher perceived risk of having a p53 mutation, no personal history of cancer and a greater number of first degree relatives (FDRs) affected with cancer. Lower perceived self-efficacy in coping with a positive test result was associated with greater cancer worry, higher decisional conflict about p53 testing and having no personal history of cancer. CONCLUSIONS: Individual perceptions about cancer risk and p53 genetic testing, as well as personal experience with FDRs' cancer diagnoses and deaths, should be addressed during the counseling and testing process for LFS-affected families.
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Asesoramiento Genético/métodos , Síndrome de Li-Fraumeni/genética , Neoplasias/diagnóstico , Neoplasias/genética , Mutación Puntual/genética , Adaptación Psicológica , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Conflicto Psicológico , Toma de Decisiones , Femenino , Estudios de Seguimiento , Genes p53 , Humanos , Persona de Mediana Edad , Calidad de Vida/psicología , Factores de Riesgo , Autoeficacia , Encuestas y Cuestionarios , Adulto JovenRESUMEN
PURPOSE: The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations. BRCAPRO was recently validated in African Americans, although has yet to be examined in Hispanics. This retrospective study reports the mutation frequency and spectrum of BRCA1 and BRCA2 mutations in a Hispanic population and evaluates the BRCAPRO model in Hispanics. PATIENTS AND METHODS: A descriptive analysis of mutation frequency and spectrum was performed for Hispanic patients who underwent BRCA1 and BRCA2 genetic testing at a single institution. For comparative analysis of the BRCAPRO risk model, Hispanic patients who underwent comprehensive analysis were compared with white controls using area under the receiver operating characteristic curves (AUROC). RESULTS: Fourteen Hispanic individuals who underwent comprehensive analysis were identified to carry a mutation in BRCA1 or BRCA2 (17.9%; 95% CI, 10.2% to 28.3%) and seven individuals had a variant of uncertain significance (9.0%; 95% CI, 12.0% to 30.8%). A total of eight different mutations and three variants were observed within the entire Hispanic population. When evaluating the performance of the BRCAPRO model, the AUROC for Hispanics was 0.774 (95% CI, 0.63 to 0.90), compared with the AUROC of 0.770 (95% CI, 0.65 to 0.89) for whites. CONCLUSION: Deleterious BRCA1 and BRCA2 mutations occur at considerable frequency within the Hispanic population, many of which have been identified previously in other ethnic populations. The BRCAPRO model appears to perform equally well in Hispanics as in whites.
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Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación , Neoplasias Ováricas/genética , Adulto , Anciano , Neoplasias de la Mama/etnología , Femenino , Hispánicos o Latinos , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/etnología , Prevalencia , Curva ROC , Riesgo , Estados UnidosRESUMEN
African Americans continue to suffer from health disparities. The Center for Minority Health (CMH) within the University of Pittsburgh has the mission to eliminate racial and ethnic health disparities. CMH has designed and implemented the Family Health History (FHH) Initiative. The FHH Initiative places genetic-counseling graduate students in the African American community to provide risk assessments and emphasize the importance of family history as it pertains to disease prevention. The FHH Initiative also allows participants to enroll into the Minority Research Recruitment Database (MRRD). This enables CMH to alert individuals to available research participation opportunities. In the first year of this program, 225 African Americans completed their family health histories. More than 60% of individuals enrolled in the MRRD. The authors report their initial successes and challenges of an initiative that incorporates awareness of family history information, proper screening guidelines, behavior-modification recommendations, and support for participation in clinical research.
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Negro o Afroamericano , Salud de la Familia/etnología , Conductas Relacionadas con la Salud , Accesibilidad a los Servicios de Salud/organización & administración , Adolescente , Adulto , Anciano , Femenino , Asesoramiento Genético/organización & administración , Predisposición Genética a la Enfermedad/etnología , Humanos , Masculino , Anamnesis/métodos , Persona de Mediana Edad , Medición de Riesgo , Factores SocioeconómicosRESUMEN
Several genes are associated with hereditary susceptibility to breast cancer. Most notably these include BRCA1 and BRCA2; however, other less common gene mutations which confer elevated breast cancer risk are associated with Cowden syndrome, Li-Fraumeni syndrome, Peutz-Jeghers syndrome, ataxia-telangiectasia heterozygosity and hereditary diffuse gastric cancer. In this article we highlight the genetic epidemiology, gene function, genotype-phenotype correlations, cancer risks and clinicopathologic findings for the cancer susceptibility genes related to these syndromes. We also examine genes, such as CHEK2, which confer a lower penetrance for breast cancer in comparison to these highly penetrant genes.