Family History Screening Research Articles

Association between Alcoholism Family History and Alcohol Screening Scores among Alcohol-dependent Patients

ObjectiveSeveral tests can be used to screen for alcohol dependence (AD), a prevalent disease with a heterogeneous etiology. As some patients with AD have a strong familial tendency in this regard, a family history of alcohol use disorders can affect the outcomes of screening tests and diagnostic evaluations for AD. In this study, we evaluated associations between a family history of alcohol use disorders and evaluations using the Cut down, Annoyed, Guilty, Eye-opener (CAGE) test, Alcohol Use Disorder Identification Test (AUDIT), and Diagnostic and Statistical Manual of Mental Disorders-fourth edition (DSM-IV) diagnostic criteria among patients with AD.MethodsWe recruited 487 male patients with AD from eight hospitals in Korea. Patients were evaluated using the CAGE, AUDIT, and DSM-IV diagnostic criteria. Patients with and without family histories were compared in terms of these assessment tools.ResultsDrinking initiation, uncontrollable drinking, and problem drinking occurred earlier and CAGE "annoyed" scores were higher in patients with a family history. Alcohol problems before the age of 25 years, frequency of spontaneous or compulsive alcohol-seeking behavior, and frequencies of psychological dependence and guilt related to alcohol use were also higher.ConclusionEarlier drinking problems, higher scores on specific items of the CAGE, and AUDIT, and meeting more diagnostic criteria indicate more dependent, harmful drinking by patients with AD who have a family history of this condition. Clinicians should consider patients' family history of alcohol use disorders when screening for AD to identify the correct diagnosis and develop appropriate treatment plans for these patients.

Racial and Ethnic Variations in the Effects of Family History of Colorectal Cancer on Screening Compliance

Individuals with a family history of colorectal cancer (CRC) have a higher risk of developing CRC than the general population, and studies have shown that they are more likely to undergo CRC screening. We assessed the overall and race- and ethnicity-specific effects of a family history of CRC on screening. We analyzed data from the 2009 California Health Interview Survey to estimate overall and race- and ethnicity-specific odds ratios (ORs) for the association between family history of CRC and CRC screening. The unweighted and weighted sample sizes were 23,837 and 8,851,003, respectively. Individuals with a family history of CRC were more likely to participate in any form of screening (OR, 2.3; 95% confidence limit [CL], 1.7, 3.1) and in colonoscopy screening (OR, 2.7; 95% CL, 2.2, 3.4) than those without a family history, but this association varied among racial and ethnic groups. The magnitude of the association between family history and colonoscopy screening was highest among Asians (OR, 6.1; 95% CL, 3.1, 11.9), lowest among Hispanics (OR, 1.4; 95% CL, 0.67, 2.8), and comparable between non-Hispanic whites (OR, 3.1; 95% CL, 2.6, 3.8) and non-Hispanic blacks (OR 2.6; 95% CL, 1.2, 5.7) (P for interaction < .001). The effects of family history of CRC on participation in screening vary among racial and ethnic groups, and have the lowest effects on Hispanics, compared with other groups. Consequently, interventions to promote CRC screening among Hispanics with a family history should be considered.

Using multiple methods to characterize the phenotype of individuals with a family history of major depressive disorder

BackgroundUnaffected relatives (URs) of individuals with major depressive disorder (MDD) are biologically more vulnerable to depression. We compare healthy URs and controls at the level of phenotype (symptoms and functioning) and endophenotype (negative emotion bias), and further investigate the interrelation between these and the contribution of environmental early life stress. MethodsURs (n=101), identified using Family History Screen interview methods and matched controls completed written and interview questions assessing symptoms of depression and anxiety, negative cognitive style, life functioning and early life stress. Biases in emotion processing were measured using a facial expression of emotion identification paradigm. ResultsCompared to controls, URs reported higher levels of depression and anxiety, a stronger negative cognitive bias, and poorer functioning and lower satisfaction with life. URs were slower to correctly identify fear and sad facial expressions. A slower response time to identify sad faces was correlated with lower quality of life in the social domain. Early life stress (ELS) did not contribute significantly to any outcome. LimitationsThe methodology relies on accurate reporting of participants' own psychiatric history and that of their family members. The degree of vulnerability varies among URs. ConclusionsA family history of depression accounts for subtle differences in symptom levels and functioning without a necessary role of ELS. A negative emotion bias in processing emotion may be one vulnerability marker for MDD. Biological markers may affect functioning measures before symptoms at the level of experience.

PTH-005 Verifying Patient Reported Family History in the Colorectal Family History Screening Clinic (CFHSC)

IntroductionNational Colorectal Family History Screening guidelines categorise risk based on incidence of familial cancer, type of cancer, age and genetic proximity. High and Medium risk patients are recommended regular or...

Development and evaluation of a brief self-completed family history screening tool for common chronic disease prevention in primary care

Family history is an important risk factor for many common chronic diseases, but it remains underutilised for diagnostic assessment and disease prevention in routine primary care. To develop and validate a brief self-completed family history questionnaire (FHQ) for systematic primary care assessment for family history of diabetes, ischaemic heart disease, breast cancer, and colorectal cancer. Two-stage diagnostic validation study in 10 general practices in eastern England. Method Participants aged 18-50 years were identified via random sampling from electronic searches of general practice records. Participants completed a FHQ then had a three-generational 'gold standard' pedigree taken, to determine disease risk category. In stage 1, the FHQ comprised 12 items; in stage 2 the shorter 6-item FHQ was validated against the same 'gold standard'. There were 1147 participants (stage 1: 618; stage 2: 529). Overall, 32% were at increased risk of one or more marker conditions (diabetes 18.9%, ischaemic heart disease 13.3%, breast cancer 6.2%, colorectal cancer 2.2%). The shorter 6-item FHQ performed very well for all four conditions: pooled data from both stages show diabetes, sensitivity = 98%, specificity = 94%; ischaemic heart disease, sensitivity = 93%, specificity = 81%; breast cancer, sensitivity = 81%, specificity = 83%; colorectal cancer, sensitivity = 96%, specificity = 88%, with an area under the receiver operating characteristic curve of 0.90 for males and 0.89 for females. This brief self-completed FHQ shows good diagnostic accuracy for identifying people at higher risk of four common chronic diseases. It could be used in routine primary care to identify patients who would be most likely to benefit from a more detailed pedigree and risk assessment, and consequent management strategies.

Inadequate family history assessment by oncologists as a physician barrier to referral for cancer genetics evaluation.

1535 Background: Cancer genetics programs have been established in tertiary cancer centers in Asia for more than a decade. However, the proportion of high-risk patients who are referred for genetic evaluation remains low, and may be attributed to physician and patient barriers. Methods: We reviewed 3-generation genograms of 6301 cancer (CA) patients constructed by a trained cancer genetics counselor at our centre between 2001 and 2012, and identified 1092 (17.3%) patients with suspected hereditary cancer syndromes. 618 patients were estimated to have ≥10% chance of carrying a BRCA1/2 mutation. Their case records were reviewed to determine the referral pattern to the cancer genetics clinic. Results: Of the 618 high risk patients, 420 (68%) had young onset CA (age &lt;40), 112 (18.1%) were breast CA families, and 58 (9.4%) were breast and ovarian CA families; only 164 (26.5%) were seen in the cancer genetics clinic. Of the 391 records reviewed so far, 132 cases (33.8%) were referred for genetic evaluation. A good family history (FH), defined by obtaining CA history in 3 consecutive generations, was obtained by the primary oncologist in 52.2%, compared to adequate smoking and drinking history in 64.7% of cases (p&lt;0.001). Taking a good FH increased the likelihood of oncologists suspecting hereditary breast and ovarian CA syndrome (50% vs 32.1%; p&lt;0.001), with 79% (128/162) of physician-suspected cases referred for genetic counseling. Young onset CA was more likely to arouse physician suspicion (46.9%) compared to other indications (30.5%, p=0.002). Of the 259 high-risk cases that were not referred, lack of FH evaluation by the oncologist was the most common reason (41.3 %), followed by lack of suspicion despite taking a FH (34.7 %), patient refusal (8.6%), and planned but no formal action (1.6%). Conclusions: Failure to take a good FH and failure to recognize high-risk CA patients despite taking a FH are important physician barriers that resulted in only a third of high-risk breast or ovarian CA patients being referred for cancer genetics evaluation at a tertiary cancer center in Asia. Systematic FH screening by genetic counselors, clinic-based protocols, and continued physician education may rectify this barrier.

Classifying the Reasons Men Consider to be Important in Prostate-Specific Antigen (PSA) Testing Decisions: Evaluating Risks, Lay Beliefs, and Informed Decisions

Despite uncertainty regarding the benefits of prostate cancer screening, many men have had a prostate-specific antigen (PSA) test. This study aims to identify classes of reasons guiding men's decisions about prostate cancer screening and predict reasoning approaches by family history and prior screening behaviour. First-degree relatives of men with prostate cancer (n = 207) and men from the general population (n = 239) of Australia listed reasons they considered when deciding whether to have a PSA test. Responses were coded into 31 distinct categories. Latent class analysis identified three classes. The evaluation of risk information cues class (20.9%) contained a greater number of men with a family history (compared with control and overcome cancer/risk class; 52.7%). Informed decisions and health system class (26.5%) included a lower proportion of men who had had a PSA test and greater proportions of highly educated and married men. Understanding the reasons underlying men's screening decisions may lead to a more effective information provision and decision support.

Self administered screening for hereditary cancers in conjunction with mammography and ultrasound

We evaluated the feasibility of an automated tablet computer application providing a family and personal history based cancer risk assessment for hereditary breast, ovarian, endometrial and colorectal cancers. 1,002 women presenting for screening mammography and 1,000 presenting for ultrasound were offered screening. The application calculated the risk of BRCA mutations using BRCAPRO, Myriad and Tyrer-Cuzick risk assessment models. Lifetime risk of breast and ovarian cancer was assessed with the BRCAPRO, Claus and Tyrer-Cuzick models. Colorectal and endometrial cancer risk was calculated via the MMRpro model. Patients were identified as high-risk based on thresholds 10% or greater risk for carrying genetic mutations or 20% or greater lifetime risk of breast or ovarian cancer. The percent of women found to be high-risk by a single risk assessment tool ranged from 0.5 to 5.3%. Combining assessment tools found 9.3% of women to be high-risk. The risk assessments performed similarly for the mammography and ultrasound cohorts with yields (combining assessment tools) of 9.2 and 9.4% respectively. The average ages of all the high-risk women were 45.8 and 39.6 years for the mammography and ultrasound cohorts respectively. Difficulties encountered included a need for software upgrade, wireless network unreliability and hardware theft. Automated family history screening can identify women probably at high-risk for hereditary cancers efficiently. The number of women identified is increased by employing multiple risk assessment models simultaneously. Surveying women in conjunction with ultrasound identified women at increased risk as effectively and at a younger age than with screening mammography.

Type 2 diabetes in Mauritania: Prevalence of the undiagnosed diabetes, influence of family history and maternal effect

AimWe estimated the prevalence of undiagnosed diabetes, analyzed the influence of family history on the occurrence of T2D and evaluated its aggregation pattern in the Mauritanian population. MethodsThe prevalence of unknown diabetes was obtained using data compiled from 1278 Mauritanian adults applying a questionnaire and fasting serum glucose tests. Detailed family history of diabetes and clinical characteristics were gathered from 421 T2D patients. ResultsThe prevalence of undiagnosed diabetes was 4.7±1.2% in the studied population (3.1% in men and 6.4% in women). 27% of T2D patients reported at least one relative with diabetes. Association between family history and diabetes was higher among first degree compared to second degree relatives (p=0.003). We observed more probands with an affected mother than those who have a father with diabetes (p=0.002), suggesting a preferential maternal effect which did not extend to second degree relatives. ConclusionsThese results show that the prevalence of diabetes in the Mauritanian population could be higher than currently thought. Family history screening may be used in the management of this condition in Mauritania.

New Ethical Horizons in Gestational Surrogacy

Gestational surrogacy occurs when a woman allows a 4-7 day embryo that was not generated from her own egg to develop in her uterus. In this paper, we review emerging scientific evidence to show how maternal-fetal cell exchange (microchimerism) may affect the future health of both surrogate and fetus/child. In light of these findings, we propose that four aspects of gestational surrogacy be examined: (1) the medical health and psychological outcomes of maternal-fetal cell exchange in surrogacy, (2) surrogacy laws and contractual agreements between the various parties, (3) provisions of a more comprehensive genetic family history and genetic screening from all parties involved, and (4) appreciation of the ethical and social complexities of surrogacy. We support gestational surrogacy provided that there is comprehensive informed consent. To be comprehensive, consent should include our current understanding of microchimerism with respect to the medical, legal, genetic, and ethical elements of surrogacy

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece

Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece.

The PRIPS study: screening battery for subjects at risk for Parkinson's disease

Screening batteries to narrow down a target-at-risk population are essential for trials testing neuroprotective compounds aiming to delay or prevent onset of Parkinson's disease (PD). The PRIPS study focuses on early detection of incident PD in 1847 at baseline PD-free subjects, and assessed age, male gender, positive family history, hyposmia, subtle motor impairment and enlarged substantia nigra hyperechogenicity (SN+). After 3years follow-up 11 subjects had developed PD. In this analysis of the secondary outcome parameters, sensitivity and specificity of baseline markers for incident PD were calculated in 1352 subjects with complete datasets (10 PD patients). The best approach for prediction of incident PD comprised three steps: (i) prescreening for age, (ii) primary screening for positive family history and/or hyposmia, and (iii) secondary screening for SN+. With this approach, one out of 16 positively screened participants developed PD compared to one out of 135 in the original cohort. This corresponds to a sensitivity of 80.0%, a specificity of 90.6% and a positive predictive value of 6.1%. These values are higher than for any single screening instrument but still too low for a feasible and cost-effective screening strategy which might require longer follow-up intervals and application of additional instruments.

The early role of CMR in the assessment of cardiomyopathy

Summary We performed a one year study to assess the impact of CMR imaging on the management of patients with suspected or confirmed cardiomyopathy. Background Investigation and risk stratification of suspected or confirmed cardiomyopathy traditionally involves correlation between electrocardiographic, echocardiographic and angiographic findings in an appropriate clinical setting. Cardiac Magnetic Resonance (CMR) is the new gold standard in assessment of cardiac structure, function and perfusion, provided in a single study. Aetiology and prognostic factors may be investigated concurrently. Methods This was a single centre, 12-month experience of patients referred for assessment of presumptive cardiomyopathy. Images were provided by a 1.5T GE Scanner and were reported by a Level 3 Reporter. Results 224 patients (145 male, 79 female) underwent CMR assessment of cardiomyopathy. 177 (79%) were outpatient referrals. The primary indications for CMR included 49 (21.9%) - Arrhythmia 42 (18.8%) - Abnormal echocardiogram with no cause found 35 (15.6%) - Cardiac symptoms with normal coronaries 32 (14.3%) - Screening for family history of CM/SCD 23 (10.3%) - Abnormal ECG/holter/stress test 18 (8%) - Follow-up of previously diagnosed CM 17 (7.6%) - Systemic illness 7 (3.1%) - ICD insertion CMR provided sufficient information to confirm or outrule cardiomyopathy in 68.2% of cases. A new diagnosis of cardiomyopathy was made in 25.4%. CMR also had an important role in ongoing assessment of patients with established diagnosis of cardiomyopathy, with 22.2% having their previous diagnosis outruled and 27.8% being recommended for device implantation as a direct result of CMR findings. Overall in cardiomyopathy assessment, CMR had an impact on management in 50% of patients, with a therapeutic consequence on 36.2%, including medication changes, angiography and device insertion. Conclusions Patients at all stages of the clinical spectrum of cardiomyopathy, from initial presentation to institution of therapy and long-term follow up may benefit from CMR. CMR should be implemented early in the diagnostis of suspected cardiomyopathy. Our data demonstrates the significant impact CMR consistently has on confirming diagnosis, guiding therapy and providing accurate prognosis in this patient group. Funding None.

Correction: Family History, Perceived Risk, and Prostate Cancer Screening among African American Men

Correction: Family History, Perceived Risk, and Prostate Cancer Screening among African American Men

P2-13-03: Comparative Assessment of 636 Women at Risk for Hereditary Breast Cancer within 3 Public Hospitals: The Consortium of Underserved BRCA Testers.

Abstract Background: Underserved women at risk for Hereditary Breast and Ovarian Cancer (HBOC) are confronted with many unique challenges, such as barriers to accessing appropriate genetic testing and counseling services and decreased resources, that place them at increased cancer risk. It is unclear whether these high-risk women are appropriately referred for genetic counseling and what their genetic test results demonstrate due to minimal practice-based evidence. To study this population, and to establish an infrastructure to further explore long-term outcomes, we formed the Consortium of Underserved BRCA testers in October 2010 from: San Francisco General Hospital (SF), Stroger Hospital of Cook County (Chicago), and Grady Memorial Hospital (Atlanta). Methods: Using common clinical and research protocols and mixed methods analysis, we examined and compared referral patterns, demographics, and BRCA test results between sites. We used chart reviews and common data collection instruments to gather and pool data. Using descriptive and comparative statistics, we examined similarities and differences between Consortium sites. Results: SF's program began 9 years ago, Chicago's began 6 years ago, and Atlanta's began 3 years ago. Medicaid funding for BRCA testing has been available in SF since 2011, in Chicago since 2009, and is not yet available in Atlanta. P values were all &amp;lt;0.05 for comparing referral sources between sites. Each site uses unique referral tools and systems. For example, in SF, a family history screening questionnaire is administered during mammography; in Chicago, an extensive primary care network has been educated to provide appropriate referrals; in Atlanta, a pedigree assessment tool is employed by referring clinics. Conclusions: Despite differences in referral patterns and Medicaid funding, underserved women at all 3 public hospital sites had similar BRCA positive rates, which are in line with positive rates from University Cancer Centers. We believe this relates to the availability of genetic counseling services and a similar testing threshold at each site. The large and ethnically diverse population of this Consortium can serve as a valuable resource for researchers and clinicians. We plan to follow this cohort prospectively to study clinical outcomes and medical decisions after BRCA testing in underserved families at risk of HBOC. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-03.

Recording, Interpreting, and Updating the Family History of Cancer

EVIDENCE-BASED GUIDELINES RECOMMEND THAT PERsons at elevated risk of cancer begin cancer screening at a younger age than the general population and consider more sensitive screening tests. A family history of cancer contains powerful information for cancer risk stratification. Because most common cancers are diagnosed in older age, the prevalence of a family history of cancer increases throughout adulthood. However, agespecific data based on detailed family history have only recently become available. In this issue of JAMA, Ziogas and coinvestigators from the Cancer Genetics Network (CGN) report prospective and retrospective data from a populationbased registry to illustrate the extent to which family history relevant for cancer prevention increases with age. What are the implications for preventive care? Family history is an integral part of medical history and decision making yet has not, until recently, been standardized or widely recorded in structured fashion. Thus, little high-quality evidence is available to confirm the health benefits of generally screening family history in primary care. However, precise family history of an array of cancers is the basis for state-of-the-art cancer risk assessment. An Agency for Healthcare Research and Quality (AHRQ) expert panel concluded that systematic family history collection tools, some self-administered, are likely to improve on usual practice in primary care. The panel recommended recording a patient’s family history of several cancers at the initial visit (including ethnicity, lineage, and age at diagnosis of each affected relative). Relevant family history also may include the family member’s tumor pathology and genotype. Family history may be more consistently discussed with new patients than with established patients. To optimize the use of clinical time and resources, it is important to know when (at what ages and how often) to update the family history of common cancers. Knowing this, health information systems can be designed to accomplish this task. Furthermore, estimating the age-specific prevalence of increased familial risk is important for planning risk-appropriate cancer prevention services. The study by Ziogas et al presents longitudinal data from the population-based CGN registry that show changes in self-reported family history of cancer through adult life, increasing most steeply before age 50 years for breast and colorectal cancer and before age 60 years for prostate cancer. The authors found a 5% chance that an individual’s colorectal cancer screening recommendation would change between the ages of 30 and 50 years based on new family history and a 4% chance that women would be newly identified candidates for breast magnetic resonance imaging. The CGN study found age-specific prevalences of “clinically relevant” family histories of colon, breast, and prostate cancer that are similar to cross-sectional population-based data obtained from the California Health Interview Survey, lending confidence that these estimates could reasonably be extrapolated to the general population. The CGN investigators recommend updating family history of cancer every 5 to 10 years between ages 30 and 60 years. In current practice, updates likely occur either when patients present to clinicians with concerns about cancer (especially a relative or friend with a recent diagnosis), or for preventive care. Although primary care clinicians generally order cancer screening, it is easy to think of circumstances when updating the family history of cancer would be relevant for surgeons, gastroenterologists, urologists, radiologists, oncologists, gynecologists, and other clinicians. Having all clinicians and patients participate in reviewing and recording family history will become more feasible as electronic health records (EHRs) compile information from all who care for a patient, and as EHRs and personal health records eventually include structured family medical history data.

Coagulation abnormalities in children undergoing epilepsy surgery

Surgery is increasingly used to treat children with refractory epilepsy. Before surgery, the authors routinely evaluated the coagulation profile to identify coagulation abnormalities not established by personal and family history, physical examination, and routine screening tests. Thirty-nine consecutive children undergoing testing prior to epilepsy surgery were prospectively evaluated. The authors evaluated a detailed hematological history and an elaborative hematological panel including complete blood count, hepatic panel, anticoagulant levels, coagulation profile (prothrombin time, partial thromboplastin time, international normalized ratio, fibrinogen, thrombin time, von Willebrand antigen, ristocetin cofactor, factor VIII, and individual factor assays when indicated) and platelet aggregation studies (in the presence of adenosine diphosphate, epinephrine, collagen, and ristocetin). Patient variables included tuberous sclerosis complex (TSC), age at epilepsy onset, age at surgery, seizure frequency, number and type of antiepileptic drugs, recent or present ketogenic diet, and use of selective serotonin reuptake inhibitors. Ten children (25.6%) had either coagulation or platelet function abnormalities. Abnormal coagulation was identified in 5 children, and abnormal platelet function was discovered in 6. A diagnosis of TSC was associated with a platelet function abnormality (p = 0.012), whereas children without TSC had a higher rate of coagulopathy (p = 0.041). None of the other characteristics reached statistical significance. In 2 patients (5.1%) with TSC and platelet aggregation abnormalities, the authors noted normal standard screening laboratory studies and an uneventful detailed personal and family history. One of these 2 patients developed a significant intraoperative bleeding complication. A preoperative screening with standard laboratory studies and detailed history may not be adequate to fully examine underlying coagulation abnormalities in children with refractory epilepsy. Platelet aggregation studies should be considered in patients with TSC.

164 THIRTY YEAR OLD MEN WITH PROSTATE CANCER

You have accessJournal of UrologyProstate Cancer: Epidemiology and Natural History1 Apr 2011164 THIRTY YEAR OLD MEN WITH PROSTATE CANCER Joshua Meeks, Lee Zhao, and John Cashy Joshua MeeksJoshua Meeks Chicago, IL More articles by this author , Lee ZhaoLee Zhao Chicago, IL More articles by this author , and John CashyJohn Cashy Chicago, IL More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2011.02.232AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES The current screening guidelines to detect prostate cancer published by the American Urological Association, the National Comprehensive Cancer Network and National Cancer Institute suggest to begin screening for PCa at the age of 40. Yet, in some men (e.g. a family history) screening for prostate cancer (PCa) will begin in the third decade of life. We utilize a national cancer registry to identify the clinical features of men diagnosed with PCa in their third decade. METHODS Men between 30 and 39 years of age with adenocarcinoma of the prostate were identified in the SEER database. A control population of men with PCa detected in their forties (9,925) and sixties (134,876) were used for comparison. RESULTS A total of 177 patients were identified with PCa detected between the ages 30 and 39. Median age at diagnosis was 38 years. The number of men diagnosed with PCa in their thirties has increased from 12 per year (1988) to 26 per year (2006) and remains a low percentage of men with PCa (0.1%). The majority of men with PCa in their thirties were Caucasian, but there was a high percentage of African American men (24%). For comparison, for men with PCa in their sixties, only 13% were African American. Most PCas for men in their thirties were detected by an elevated PSA (T1c, 54%) with 26% detected by abnormal DRE. While the majority of PCas were low Gleason grade (3+3) for thirty year old men, a high percentage of PCas (35%) were Gleason 4 or greater. Radical prostatectomy was performed in 58% of men in their 30s (103), compared to only 39% of men in their sixties (52,606) and a similar number received adjuvant radiotherapy (7 or 4% of thirty men) compared to men in their sixties (4189, 3.1%). Men in their thirties had higher rates of metastasis to bone (4.8%) compared to men in the forties (1.5%) or 60s (1.5%). Importantly, men in their third decade were twice as likely to die from their PCa (5.1% vs. 2.5%, p=0.04) compared to men in their forties or sixties. CONCLUSIONS Although rarely diagnosed at such a young age, PCa detected in men in their decade may be aggressive with a high rate of Gleason 4 tumors, bone metastasis with a significant rate of PCa specific mortality. The majority of these PCas may be detected by screening (PSA and DRE) and men with risk factors may consider early PCa screening. © 2011 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 185Issue 4SApril 2011Page: e69 Advertisement Copyright & Permissions© 2011 by American Urological Association Education and Research, Inc.MetricsAuthor Information Joshua Meeks Chicago, IL More articles by this author Lee Zhao Chicago, IL More articles by this author John Cashy Chicago, IL More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...

Evaluation of the insulin-like growth factors (IGF) IGF-I and IGF binding protein 3 in patients at high risk for breast cancer

Our data suggest that serum concentrations of insulin-like growth factor I and insulin-like growth factor binding protein 3 do not correlate with breast cancer development.

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

BackgroundThoracic aortic aneurysms and dissections (TAAD) is a critical condition that often goes undiagnosed with fatal consequences. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. The most common familial TAA is Marfan syndrome (MFS), which is primarily caused by mutations in fibrillin-1 (FBN1) gene. Patients with FBN1 mutations are at higher risk for dissection compared to other patients with similar size aneurysms.MethodsFifteen family members were genotyped using Affymetrix-10K genechips. A genome-wide association study was carried out using an autosomal dominant model of inheritance with incomplete penetrance. Mutation screening of all exons and exon-intron boundaries of FBN1 gene which reside near the peak Lod score was carried out by direct sequencing.ResultsThe index case presented with agonizing substernal pain and was found to have TAAD by transthoracic echocardiogram. The family history was significant for 3 first degree relatives with TAA. Nine additional family members were diagnosed with TAA by echocardiography examinations. The affected individuals had no syndromic features. A genome-wide analysis of linkage mapped the disease gene to a single locus on chromosome 15q21 with a peak Lod score of 3.6 at fibrillin-1 (FBN1) gene locus (odds ratio > 4000:1 in favour of linkage), strongly suggesting that FBN1 is the causative gene. No mutation was identified within the exons and exon-intron boundaries of FBN1 gene that segregated with the disease. Haplotype analysis identified additional mutation carriers who had previously unknown status due to borderline dilation of the ascending aorta.ConclusionsA familial non-syndromic TAAD is strongly associated with the FBN1 gene locus and has a malignant disease course often seen in MFS patients. This finding indicates the importance of obtaining detailed family history and echocardiographic screening of extended relatives of patients with non-syndromic TAAD to improve the outcome. In addition, association of non-syndromic TAAD with the Marfan disease gene locus poses the question whether secondary prevention strategies employed for Marfan syndrome patients should be applied to all patients with familial TAAD.