scholarly journals Cancer Risks for Relatives of Children with Cancer

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
John A. Heath ◽  
Elizabeth Smibert ◽  
Elizabeth M. Algar ◽  
Gillian S. Dite ◽  
John L. Hopper
Keyword(s):  
Childhood Cancer ◽  
Familial Cancer ◽  
Incidence Rates ◽  
Cancer Syndrome ◽  
Degree Relative ◽  
Cancer History ◽  
First Degree Relatives ◽  
History Of ◽  
Familial Cancer Syndromes ◽  
Gender Specific

We determined the extent and distribution of cancers in relatives of 379 children newly diagnosed with cancer. Family history was collected from 1,337 first-degree and 3,399 second-degree relatives and incidence compared with national age- and gender-specific rates. Overall, 14 children (3.7%) had a relative with a history of childhood cancer and 26 children (6.9%) had a first-degree relative with a history of cancer, with only one of these having an identifiable familial cancer syndrome. There was a higher than expected incidence of childhood cancer among first-degree relatives (parents and siblings) (standardized incidence ratio (SIR) 1.43; 95% CI 0.54–5.08). There was also a higher than expected incidence of adult cancers among first-degree relatives (SIR 1.45; 95% CI 0.93–2.21), particularly in females (SIR 1.82; 95% CI 1.26–3.39). The increased family cancer history in first-degree females was largely attributable to an effect in mothers (SIR 1.78; 95% CI 1.27–3.33). The gender-specific association was reflected in higher than expected incidence rates of breast cancer in both mothers (SIR 1.92; 95% CI 0.72–6.83) and aunts (SIR 1.64; 95% CI 0.98–2.94). These findings support the hypothesis that previously undetected familial cancer syndromes contribute to childhood cancer.

scholarly journals Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Ihab Shafek Atta ◽  
Fahd Nasser AlQahtani
Keyword(s):  
Malignant Tumors ◽  
Familial Cancer ◽  
Breast Cancers ◽  
Cancer Syndrome ◽  
Colon Adenomas ◽  
Invasive Mammary Carcinoma ◽  
History Of ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes ◽  
Carcinoma Renal Cell

We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

Development of a questionnaire to identify persons with a family history of aneurysmal subarachnoid hemorrhage

2022 ◽  
pp. 174749302110690
Author(s):  
Charlotte CM Zuurbier ◽  
Jacoba P Greving ◽  
Gabriel JE Rinkel ◽  
Ynte M Ruigrok
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Family History ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Positive Family History ◽  
Stroke Patients ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Family History Questionnaire ◽  
Affected Relative ◽  
History Of

Background: Preventive screening for intracranial aneurysms is effective in persons with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH), but for many relatives of aSAH patients, it can be difficult to assess whether their relative had an aSAH or another type of stroke. Aim: We aimed to develop a family history questionnaire for people in the population who believe they have a first-degree relative who had a stroke and to assess its accuracy to identify relatives of aSAH patients. Methods: A questionnaire to distinguish between aSAH and other stroke types (ischemic stroke and intracerebral hemorrhage) was developed by a team of clinicians and consumers. The level of agreement between the questionnaire outcome and medical diagnosis was pilot tested in 30 previously admitted aSAH patients. Next, the sensitivity and specificity of the questionnaire were assessed in 91 first-degree relatives (siblings/children) of previously admitted stroke patients. Results: All 30 aSAH patients were identified by the questionnaire in the pilot study; 29 of 30 first-degree relatives of aSAH patients were correctly identified. The questionnaire had a sensitivity of 97% (95% confidence interval (CI) = 83–100%) and a specificity of 93% (95% CI = 84–98%) when tested in the first-degree relatives of stroke patients. Conclusion: Our questionnaire can help persons to discriminate an aSAH from other types of stroke in their affected relative. This family history questionnaire is developed in the Netherlands but could also be used in other countries after validation.

scholarly journals Extrahepatic Autoimmune Diseases are Prevalent in Autoimmune Hepatitis Patients and Their First-Degree Relatives: Survey Study (Preprint)

2017 ◽  
Author(s):  
Rachel Fogel ◽  
Megan Comerford ◽  
Prianka Chilukuri ◽  
Eric Orman ◽  
Naga Chalasani ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Autoimmune Hepatitis ◽  
Survey Study ◽  
Categorical Variables ◽  
Healthy Controls ◽  
Continuous Variables ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Autoimmune Conditions ◽  
History Of

BACKGROUND Concurrent autoimmune illnesses contribute to increased medical burden and reduced quality of life in patients with autoimmune hepatitis (AIH). The frequency of coexisting autoimmune conditions among North American patients with AIH and their families remains incomplete. Challenges associated with disease capture in the electronic medical record, high study costs, and geographic spread of patients are formidable barriers to understanding the extent of concurrent autoimmune conditions in these groups. OBJECTIVE This objective of this study was to examine the frequency of extrahepatic autoimmune diseases (EHAD) among AIH cases and healthy controls as well as their first-degree relatives using social networking sites (SNS). METHODS We developed a 53-question survey detailing the history of autoimmune diseases. A survey link was posted at routine intervals within specific Web-based cohorts on SNS. Healthy controls, without self-reported autoimmune liver disease, were recruited from Amazon’s Mechanical Turk. Continuous variables were summarized using medians and P values obtained with the Wilcoxon rank-sum test. Categorical variables were compared using the chi-square test. RESULTS Compared with controls (n=1162), cases (n=306) were more likely to be older (median age: 49 vs 33 years), female (284/306, 92.81% vs 955/1162, 82.18%), and have an EHAD (128/306, 41.83% vs 218/1162, 18.76%; P=.001). The most frequent EHADs among cases were thyroid disease (49/306, 16.01% ), Sjögren syndrome (27/306, 8.82%), Raynaud phenomenon (23/306, 7.52%), and psoriasis (22/306, 7.19%). Overall, 55.88% (171/306) of cases and 35.71% (1601/4484) of controls reported at least 1 first-degree relative (FDR) with a history of EHAD (P=.001). Cases had a significantly higher risk of EHAD than controls after the adjustment for age, sex, race, and body mass index: odds ratio 2.46 (95% CI 1.8-3.3); P=.001. CONCLUSIONS Patients with AIH report higher prevalence of coexistent EHAD than healthy controls, and their FDRs are also more likely to have autoimmune disorders.

scholarly journals Familial Clustering of Aortic Size, Aneurysms, and Dissections in the Community

Circulation ◽  
2020 ◽  
Vol 142 (10) ◽  
pp. 920-928 ◽  
Author(s):  
Jakob Raunsø ◽  
Rebecca J. Song ◽  
Ramachandran S. Vasan ◽  
Maximillian T. Bourdillon ◽  
Betina Nørager ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Framingham Heart Study ◽  
Incidence Rates ◽  
Hazard Ratio ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Heart Study ◽  
Aortic Dissections ◽  
Aortic Size

Background: Ruptured aortic aneurysm and aortic dissections are potentially preventable disorders associated with high mortality. Screening of individuals at risk may translate into elective surgical interventions and lowered mortality. It is uncertain if the risk of aortic dilation of varying degrees aggregates within families. Methods: We investigated the risk of having thoracic and abdominal aortic sizes in the highest quartile (measured by computed tomography scans and indexed for body size) if at least 1 parent did so in the Framingham Heart Study cohorts, and estimated the incidence rates and hazard ratios of developing aortic aneurysm or dissection among first-degree relatives of those with aortic aneurysm or dissection, in comparison with age- and sex-matched controls (1:10 for aortic aneurysm and 1:100 for aortic dissection) using the Danish nationwide administrative registries. Results: In the Framingham Heart Study, offspring (n=235) whose parent(s) had a sex- and age-standardized aortic size in the upper quartile had a multivariable-adjusted ≈3-fold increased odds ratio of belonging to the upper quartile themselves. In Denmark, a total of 68 939 individuals (mean age, 42 years) had a first-degree relative with aortic aneurysm and 7209 persons (mean age, 39 years) had a first-degree relative with aortic dissection. During an average follow-up of 7 years, first-degree relatives of patients with aortic aneurysm and dissection had a hazard ratio of 6.70 (95% CI, 5.96–7.52) for developing aortic aneurysm and a hazard ratio of 9.24 (95% CI, 5.53–15.44) for dissection in comparison with matched controls. These estimates remained unchanged on adjusting for several comorbidities, including prevalent hypertension, bicuspid aortic valve, and the Marfan syndrome. For both aortic aneurysm and dissections, the absolute event rates approached 1 per 1000 person-years for first-degree relatives versus 11 to 13 (aortic aneurysm) and 2 to 3 (aortic dissections) per 100 000 person-years among controls. Conclusions: Increased aortic size, a precursor of aortic aneurysm and a risk factor for dissection, clusters in families. The incidence rates of aortic aneurysm and dissections approach the incidence rates of other common cardiovascular conditions in first-degree relatives, supporting the use of systematic screening for these conditions.

Familial Malignant Hematological Disorders: A Systematic Assessment in 216 Consecutive Patients with Acute Leukaemia.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4500-4500
Author(s):  
Laetitia Huiart ◽  
Marina Lafage ◽  
Laetitia Rabayrol ◽  
Aude Charbonnier ◽  
Philippe Bourdeleau ◽  
...  
Keyword(s):  
Familial Cancer ◽  
Cancer Syndrome ◽  
Full Data ◽  
Familial History ◽  
Hematological Disorders ◽  
Familial Form ◽  
History Of ◽  
Sporadic Cases ◽  
Normal Cytogenetics ◽  
History Of Cancer

Abstract Purpose Our objective was to describe the biological characteristics of acute leukemia (AL) patients with or without a familial form of malignant hematological disorders. Population The study population included all newly diagnosed cases of AL treated in the departments of hematology of Institut Paoli-Calmettes between January 2002 and December 2004. We identified 291 eligible patients, of which 216 (74.2%) provided consent to participate in the study and filled a short questionnaire collecting demographic, personal and familial medical data. A face to face interview was arranged for 185 patients (85.7%) and a pedigree compiled for each family and reviewed by 2 familial cancer consultants. Results Among the 185 patients with full data on personal and familial history of cancer, 34 (18.4%) had a strong familial history of cancer of which 16 (8.6%) presented a familial form of malignant hematological disorders (at least another case of hematological malignancy in the 1, 2 or 3 degree relatives). Seven families had at least 2 first degree family members with leukemia and 2 families had 5 relatives (1st, 2nd or 3rd degree) diagnosed with leukaemia. Most index cases were diagnosed with AML in both groups (88.1%). Among familial forms, 7 AML (50%) were classified as FAB M1 or M2. No M3, M6 or M7 were identified. White blood cell count was higher than 30 G/l in 37.5% of familial form as compared to 23.5% in sporadic cases (NS). The mean circulating blast percentage was higher in familial forms (66.6% (SD= 35.5)) than in sporadic cases (36.7% (SD=32.1)) (p=0.001). None of the familial forms were consecutive to pre-existing myelodysplasic or myeloproliferative syndrome. Among familial cases with AML, 43% had normal cytogenetics (vs 36% in sporadic cases); none had a complex karyotype; one presented with a t(3;15)(p26;q11) as a mosaic, a translocation not previously reported. Complete remission (CR) rates after 1st induction and Overall Survival (OS) were similar in both groups (CR in both groups: 61.5% (n=112); OS: median: 16 months (95%CI = 10.2 – 21.8) in familial forms vs 23.9 months (18.8 – 28.9)). Conclusion According to our data, among the 15 900 new cases of AL diagnosed every year in the US, 1 370 may correspond to familial forms. This warrants awareness of clinicians who should systematically assess family cancer history. Familial AL tends to present as a proliferative form, with no prior hematologic malignancies and normal cytogenetics. This is consistent with pathogenesis pathways described in other familial cancer syndrome.

A Family History of Psoriasis in a First-degree Relative in Children with JIA: to Include or Exclude?

2016 ◽  
Vol 43 (5) ◽  
pp. 944-947 ◽  
Author(s):  
Mercedes O. Chan ◽  
Ross E. Petty ◽  
Jaime Guzman ◽  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Family History ◽  
Prospective Cohort ◽  
Common Reason ◽  
Exclusion Criterion ◽  
Classification Criterion ◽  
Degree Relative ◽  
First Degree Relatives ◽  
History Of

Objective.To determine the consequences of disregarding first-degree relatives with psoriasis (FRP) as a classification criterion in juvenile idiopathic arthritis (JIA).Methods.Criteria were examined in children from a prospective cohort with unclassified and psoriatic JIA.Results.FRP was the most common reason children were unclassified (57/85, 67%); all 57 children could be classified if FRP were disregarded as an exclusion criterion. FRP was a necessary inclusion criterion to classify 11/77 (14.3%) children with psoriatic JIA.Conclusion.Eliminating FRP as an exclusion criterion, but keeping it as an inclusion criterion in psoriatic JIA simplifies classification, though it is unclear whether the resulting classification would be better.

Differences in the Distribution of Cytogenetic Subtypes Between Multiple Myeloma Patients with and without a History of Familial MGUS and Multiple Myeloma

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4000-4000
Author(s):  
Alexandra Greenberg ◽  
Margot Cousin ◽  
Celine M Vachon ◽  
Dirk Larson ◽  
Colin L. Colby ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Family History ◽  
Research Funding ◽  
Plasma Cells ◽  
Statistical Significance ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Familial Tendency ◽  
Increased Risk ◽  
History Of

Abstract Abstract 4000 Background: We have previously reported that there is an increased risk of monoclonal gammopathy of undetermined significance (MGUS) in first-degree relatives of patients with multiple myeloma (Vachon CM. Blood 2009 114: 785–790). There are several cytogenetic subtypes of myeloma, and there are no data on whether certain cytogenetic subtypes of myeloma are more frequently associated with familial MGUS. Methods: We studied patients with myeloma who participated in the familial MGUS study in whom presence or absence of MGUS in the first-degree relatives had been ascertained (Vachon CM. Blood 2009 114: 785–790). Probands were seen at the Mayo Clinic Hematology/Oncology practice (Rochester, MN, USA) between February 2006 and September 2007. Cytogenetic data was acquired via electronic medical record abstraction of fluorescence in-situ hybridization (FISH) lab reports, and used to categorize patients into one of nine cytogenetic subgroups: trisomy(ies), t(6;14), t(11;14), t(4;14), t(14;16), t(14;20), Mixed (those with trisomy(ies) and an IgH translocation), other cytogenetic abnormalities (in the absence of trisomy(ies) or IgH translocation), and normal (Kumar S. Blood 2012;119:2100–2105). We examined whether a difference in the distribution of the six primary cytogenetic categories of myeloma existed between probands with a family history of MGUS and/or myeloma and those without. Results and Conclusions: Of the 248 patients invited to participate, FISH data (with sufficient plasma cells) was available on 119 participants to establish the primary molecular cytogenetic classification of myeloma. All had available information regarding family history of MGUS and multiple myeloma. 27 had an affected first-degree relative with MGUS, and 92 did not. Distributions of cytogenetic subtypes in the two groups are shown in Table 1. IgH translocated MM was more common in myeloma patients who lacked an affected first-degree relative compared to those with familial MGUS (19% vs 30%, P=0.32) Interestingly, the t(11;14) subtype was more common in myeloma patients without familial MGUS compared to those with an first-degree relative with MGUS (19.6% vs 7.4%, P=0.24). The differences in Table 1 did not reach statistical significance, possibly due to the small numbers of individuals with a family history in this sample. However, the distribution (Table 1) suggests that the distribution of cytogenetic subtypes may be different in myeloma that is not associated with familial MGUS compared with myeloma in which a familial tendency is detected. IgH translocated MM appears to have a lower risk of familial tendency. Further investigation is needed to estimate the risk of familial MGUS within each cytogenetic subtype. Disclosures: Kumar: Merck: Consultancy, Honoraria; Millennium: Research Funding; Celgene: Consultancy, Research Funding; Novartis: Research Funding; Genzyme: Research Funding.

scholarly journals Family history of hematopoietic malignancies and risk of non-Hodgkin lymphoma (NHL): a pooled analysis of 10 211 cases and 11 905 controls from the International Lymphoma Epidemiology Consortium (InterLymph)

Blood ◽  
2006 ◽  
Vol 109 (8) ◽  
pp. 3479-3488 ◽  
Author(s):  
Sophia S. Wang ◽  
Susan L. Slager ◽  
Paul Brennan ◽  
Elizabeth A. Holly ◽  
Silvia De Sanjose ◽  
...  
Keyword(s):  
Hodgkin Lymphoma ◽  
Regression Models ◽  
Pooled Analysis ◽  
Degree Relative ◽  
Disease Etiology ◽  
Logistic Regression Models ◽  
Hematopoietic Malignancies ◽  
First Degree Relatives ◽  
Non Hodgkin Lymphoma ◽  
History Of

Abstract A role for genetic susceptibility in non-Hodgkin lymphoma (NHL) is supported by the accumulating evidence of common genetic variations altering NHL risk. However, the pattern of NHL heritability remains poorly understood. We conducted a pooled analysis of 10 211 NHL cases and 11 905 controls from the International Lymphoma Epidemiology Consortium (InterLymph) to evaluate NHL risk among those with hematopoietic malignancies in first-degree relatives. Odds ratios (ORs) and 95% confidence intervals (CIs) of NHL and its subtypes were estimated from unconditional logistic regression models with adjustment for confounders. NHL risk was elevated for individuals who reported first-degree relatives with NHL (OR = 1.5; 95% CI = 1.2-1.9), Hodgkin lymphoma (OR = 1.6; 95% CI = 1.1-2.3), and leukemia (OR = 1.4; 95% CI = 1.2-2.7). Risk was highest among individuals who reported a brother with NHL (OR = 2.8; 95% CI = 1.6-4.8) and was consistent for all NHL subtypes evaluated. If a first-degree relative had Hodgkin lymphoma, NHL risk was highest if the relative was a parent (OR = 1.7; 95% CI = 1.0-2.9). If a first-degree relative had leukemia, NHL risk was highest among women who reported a sister with leukemia (OR = 3.0; 95% CI = 1.6-5.6). The pattern of NHL heritability appeared to be uniform across NHL subtypes, but risk patterns differed by specific hematopoietic malignancies and the sex of the relative, revealing critical clues to disease etiology.

scholarly journals Stroop-test interference in bipolar disorder

2009 ◽  
Vol 194 (3) ◽  
pp. 285-286 ◽  
Author(s):  
Eugenia Kravariti ◽  
Katja Schulze ◽  
Fergus Kane ◽  
Sridevi Kalidindi ◽  
Elvira Bramon ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Depressive Symptoms ◽  
Family History ◽  
Degree Relative ◽  
Neuropsychological Screening ◽  
First Degree Relatives ◽  
Healthy Control ◽  
History Of ◽  
Psychotic Features ◽  
Interference Score

SummaryWe analysed Stroop (neuropsychological screening test) measures of response inhibition in 18 twin pairs discordant for bipolar I disorder compared with 17 healthy control pairs, as well as 40 singletons with bipolar disorder with psychotic features and a family history of psychosis, 46 of their first-degree relatives without bipolar disorder or psychosis and 48 controls. In both studies, individuals with bipolar disorder showed Stroop deficits and their first-degree relatives showed intact performance. In the twin patients, an interference score was associated with depressive symptoms. Having a first-degree relative with bipolar disorder, even a familial, psychotic form, did not confer risk for enhanced susceptibility to interference in our studies.

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