Application of Canadian hereditary renal cell carcinoma risk criteria to a population database.
Igal KushnirLeah KirkRanjeeta MallickRaymond H. KimGail E. GrahamRodney H. BreauJean‐Baptiste LattoufPhilippe D. VioletteStephen E. PautlerMelanie CareAnil KapoorMichael A.S. JewettLori WoodSimon TanguayDaniel Yick Chin HengNaveen S. BasappaAlan SoFrédéric PouliotM. Neil Reaume
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621 Background: Canadian criteria for identifying patients (pts) and families at risk for hereditary renal cell carcinoma (RCC) were published in 2013. They included characteristics for pts with RCC (age ≤ 45 years, bilateral or multifocal tumours, associated medical conditions and non-clear cell histologies with unusual features) and for any pts who have a family history of specific clinical or genetic diagnoses associated with renal neoplasms. The clinical impact of these criteria on genetic testing had yet to be evaluated. Methods: The Canadian hereditary RCC risk criteria were applied to pts from 16 centres in the Canadian Kidney Cancer Information System prospective database. The primary endpoint was the proportion of pts who met at least one criterion. Secondary endpoints included the number of pts with more than one criterion and the number of pts receiving genetic testing (with or without at risk criteria). Results: From January 2011 to May 2017, 8097 pts were entered in the database. 2827 (35%) met at least one criterion for genetic testing. The majority (83%) met just 1 criterion, while 16% met 2 criteria. The criterion of non-clear cell histology with unusual features contributed the largest proportion of at risk pts (59%), followed by age ≤ 45 years (29%), then first or second degree relative with renal tumour (16%). 69 pts underwent genetic testing, with 59 being classified at risk ( < 3% of at risk). Details about the genetic testing results will be presented. Conclusions: The application of the Canadian hereditary RCC risk criteria to a population database resulted in 35% of pts being identified at risk for hereditary RCC. However, the true incidence of hereditary RCC in this population is unknown as most pts did not undergo genetic testing, and thus the sensitivity or specificity of the criteria cannot be determined. The low proportion of at risk pts that underwent genetic testing was disappointing and highlights that there may be gaps in reporting, knowledge and/or barriers in access to genetic testing. The results have helped determine the proportion of at risk pts in Canada, what criteria are most common, and importantly, have established a foundation and benchmark to improve upon.Keywords:
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If effective cancer screening is more common in people with a family history of cancer, the relationship between family history and cancer incidence may become distorted.To assess the impact of screening on the association between colorectal cancer family history and risk of colorectal cancer, we developed a model to simulate screening patterns in those with and without a family history.The introduction of screening reduces the apparent risk of colorectal cancer associated with family history in subsequent generations. This reduction becomes more pronounced as the difference in the uptake of screening between those with a family history and those without becomes larger.A result of effective screening is that observed family history of colorectal cancer may no longer match inherited risk, and observed family history may fail to be a strong risk factor. This may have implications for exposure-disease relationships if screening is differentially associated with the exposure.
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Objective To explore relationship between CAD family history and CHD-related ECG abnormalities.Methods The baseline data of 2524 cases with hypertension who entered Disease Control Project of Ministry-National standardized on High Blood Pressure and the Ministry of Health Industry Fund-cardiovascular disease risk factor surveillance and high blood pressure standardized management in Ningxia were analyzed.Results The proportion of answering unclear for family history of coronary heart disease significantly increased with age while clear significantly reduced with age(P0.05).The rate of abnormal ECG in cases under 50 years old with positive family history of CHD was significantly higher than that in cases with negative family history of CHD(17.2% vs 9.5%,P0.05).The rate of abnormal ECG showed no significant difference between different family history of CHD in cases aged above 50(P0.05).Cases with positive family history of CHD had significantly higher BMI,blood pressure,and TC than cases with negative family history of CHD had.Logistic regression analysis showed that family history of CHD significantly increased risk of abnormal ECG(OR=1.51,95%CI=1.09-2.10).Furthermore,after excluding people above 50 age old,the family history of CHD was independent risk factor of abnormal ECG.Conclusion Family history of CHD was independent risk factor of abnormal ECG,especially in cases aged under 50.
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The aim of the study was to analyze clinical features of patients with premature acute coronary syndrome (ACS) in relation to family history of cardiovascular disease (CVD) and familial hypercholesterolemia (FH).Of 2832 patients included in ORACUL 1 and ORACUL 2 multicenter observational trials 512 pts who developed premature ACS (≤55 years for men, ≤60 years for women) and had known family history and LDL level were selected for this study. Of these patients 297 had positive family history (51 with FH, 246 no FH), 215 had negative family history.Among patients with positive family history there were more women (31 vs 20.9 %), while among patients with negative family history there were more men (79.1 vs 69 %). The fact of regular alcohol consumption was significantly more frequently observed among patients with positive family history but without FH, compared to patients with positive family history with FH (69.6 vs 47.1 %). Women with positive family history smoked more frequently than females with negative family history (51.1 vs 31.1 %). Among patients with negative family history compared with patients with positive family history there were more people who at admission had hyperglycemia exceeding 11.1 mmol / l (10.3 vs 4.4 %). Multiple vessel disease and coronary calcinosis were present in 73.2 and 24.7 %, respectively, of patients with positive family history, and in 56.9 and 9.8 %, respectively, of those with negative family history. Among patients with positive family history multivessel disease was more frequent in the subgroup with FH, while coronary calcinosis was more frequent in the subgroup without FH.Thus, premature development of ACS might be associated not only with genetic factors but also with family history ("inheritance") of adverse habits. Herewith coronary calcinosis is more prevalent in patients with FH.
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BACKGROUND: Colorectal cancer (CRC) is the third most common cancer in Canada. Screening guidelines recommend that first-time screening should occur at 50 years of age for average-risk individuals and at 40 years of age for those with a family history of CRC. OBJECTIVE: To examine whether persons with a positive CRC family history were achieving screening at 40 years of age and whether average-risk persons were achieving screening at 50 years of age. METHODS: The present study was a cross-sectional analysis of subjects who entered a colon cancer screening program and were undergoing CRC screening for the first time. RESULTS: A total of 778 individuals were enrolled in the present study: 340 (174 males) with no family history of CRC, and 438 (189 males) with a positive family history of CRC. For the group with a positive family history, the mean (± SD) age for primary screening was 54.4±8.5 years, compared with 58.2±6.4 years for the group with no family history. On average, those with a positive family history initiated screening 3.8 years (95% CI 2.8 to 4.8; P<0.05) earlier than those without. Adenoma polyp detection rate for the positive family history group was 20.8% (n=91) compared with 23.5 % (n=80) for the group with no family history. CONCLUSIONS: Individuals with a positive CRC family history are initiating screening approximately four years earlier than those without a family history; nevertheless, both groups are undergoing screening well past current guideline recommendations.
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The importance of a positive family history as a primary risk factor for coronary heart disease was examined in a case history study. Of 792 consecutive male patients aged under 60 years who survived a first episode of unstable angina or myocardial infarction, 326 had a negative family history, 298 had a positive history, and in 168 a family history could not be established with certainty. There was no significant difference in the distribution of the three primary coronary risk factors--cigarette smoking, hypertension, and hypercholesterolaemia--between those with and those without a positive family history. The 133 subjects with a positive family history of premature coronary heart disease (occurrence in near relatives under 60 years) were significantly younger than those with a negative family history. It is concluded that there is little evidence to confirm a positive family history as an important independent risk factor for coronary heart disease, although there may be familial aggregation of subjects with a high susceptibility to the effects of the three primary risk factors, cigarette smoking, hypertension, and hyperlipidaemia.
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In this study we evaluated the several risk-factors, Lp(a) and lipids order, related to the family history for ischaemic cardiovascular disease (CHD) atherosclerotic cerebrovasculopathy and arterious hypertension, in a healthy adolescent group, to stress possible early and significant alteration of the lipids order and Lp(a); we also considered which of these parameters may be considered the risk factor most closely related to family history. We studies 130 healty high school students, mean age 16.5 +/- 5.5 years, selected in four groups related to the family history: the first one composed of 34 subjects with positive family history for CHD; the second one of 32 subjects with positive family history for cerebral infarction (CI); the third by 32 subjects with family history for arterial hypertension and the last group by 30 control subjects. Mean value of all variables considered was in the normality range. Lp(a) resulted in the normality range with the exception of the group with positive family history for CHD. Also the traditional risk factors (Total-Col., LDL/Col. and Triglycerides) were increased in this group. Besides the differences between the mean of Lp(a) and Total/Col. in the group with positive family history for CHD and in the control group were statistically significant. The results showed that Lp(a), even if it cannot replace the family history in the screening of coronary atherosclerotic disease, might be considered a risk marker of early atherosclerotic disease.
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Family history is a major risk factor for breast cancer; approximately 5-10% cases of breast cancer are associated with a family history. Herein, we investigated the link between family history and breast cancer features to elucidate the importance of family history in the diagnosis and treatment of breast cancer. Data from 10,549 patients with breast cancer were collected from 2014 to 2017. Detailed information about the family history of the patients including the degree and number of relatives affected and the types of cancer was recorded. The tumors were pathologically and clinically classified based on the stage, grade, ER, PR, HER2, Ki-67 status, and subtypes, according to standard guidelines. Data were analyzed using χ2 test and multiple logistic regression. Patients with a family history of other cancer types were significantly older at diagnosis than patients with a family history of breast/ovarian cancer (p = 0.002) and those without a family history of cancer (p < 0.001). Patients without a family history of cancer were typically diagnosed at a later stage, including high frequency in N2 (p = 0.035) and TNM stage III (p = 0.015). Compared with patients with second-/third-degree relatives, those with first-degree relatives having breast/ovarian cancer had a higher median age (54.1, p < 0.001) at diagnosis and showed more advanced disease. No significant difference was found between ER, PR, and HER2 status in patients with and without a family history of cancer. Family history of breast cancer can influence the cancer characteristics of the patients at diagnosis, especially patient age, tumor stage, and grade.
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Family history is an important cancer risk assessment tool, and it is easy to use. The family history is integral in identifying an individual's risk for primary cancer and assists in the assessment of risk for a second primary cancer. For oncology providers, the critical family history is defined as including first- and second-degree family history, maternal and paternal history, type of primary cancer, and age at diagnosis and ethnicity. Family history should be taken at diagnosis and updated periodically. Despite the importance of family history to patient care, there are significant barriers to taking a family history. We review the impact of collecting complete family history data with respect to calculation of cancer risk, recommendations for screening, and prevention strategies and referral for genetic testing.
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