Oesophageal cancer: Commonly familial, possibly heritable.

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 23-23
Author(s):  
Niamh Peters ◽  
Sinead King ◽  
Emily O'Donovan ◽  
David James Gallagher ◽  
John V Reynolds
Keyword(s):  
Family History ◽  
Oesophageal Cancer ◽  
Cancer Genetics ◽  
Age At Diagnosis ◽  
Degree Relative ◽  
Genetic Database ◽  
The Family ◽  
History Of ◽  
Oesophageal Surgery ◽  
Genetic Assessment

23 Background: Oesophageal cancer (OC) accounts for 400 deaths in Ireland per year. Prognosis remains poor, and improved prevention is needed. Familial clustering has been described however, The Nordic Twin Study of Cancer does not support a strong hereditability. We investigated familial OC over a decade in Ireland. Methods: The independent records of two national referral services were reviewed: an oesophageal surgery database and a hereditary cancer genetics database. Demographic Factors including family history of OC were recorded from the surgical database. Families containing a single OC diagnosis were identified in the genetics database. Age at diagnosis and additional cancer diagnoses in the family were recorded. Results: 1238 patients with OC were seen at St. James’s Hospital from 2005 to 2015. Demographic characteristics are shown in Table. 641 patients (51%) had a family history of malignancy. Seventy eight (6.3%) reported a family history of OC, 6 (7.6%) of whom had two or more first degree relatives with OC and 10 (13%) had both a first degree and second degree relative with OC. More male relatives were diagnosed with OC than female (59% vs 41%).The majority (24%) with a family history were diagnosed at Stage III, the majority (29%) without a family history were diagnosed at Stage II. 1840 pedigrees from the genetic database were reviewed. No pedigree contained a Proband with OC.4.5%(n = 84) included at least one family member with OC. The median age at diagnosis was 64. Breast, colorectal and gastric were the most commonly associated cancers with median ages of 50,59 and 64 respectively. Conclusions: More than half of patients presenting with OC report a family history of cancer, with likely hereditary and environmental components. OC patients are rarely referred for genetic assessment, possibly due to treatment related morbidity and poor clinical outcome. [Table: see text]

scholarly journals Syncope in Childhood: A Case Control Clinical Study of the Familial Tendency to Faint

1990 ◽  
Vol 17 (3) ◽  
pp. 306-308 ◽  
Author(s):  
Peter R. Camfield ◽  
Carol S. Camfield
Keyword(s):  
Family History ◽  
Vasovagal Syncope ◽  
Case Control ◽  
Degree Relative ◽  
Environmental Stimulus ◽  
Best Friend ◽  
Best Friends ◽  
The Family ◽  
History Of ◽  
Control Clinical Study

ABSTRACT:We investigated the possibility of an inherited tendency to faint by studying 30 consecutively referred well children with vasodepressor or vasovagal syncope. The family history of each patient was reviewed for syncope and for 24 cases was compared with the family history of the child's best friend. None of the best friends had syncope. 27/30 cases and 8/24 best friends had at least one first degree relative with syncope (p < 0.01). Of the 8 best friend controls with a parent or sibling with syncope, the mother was affected in 7; 4/7 of these mothers had first degree relative(s) with syncope. In 11/30 patients both a sibling and parent had syncope compared with 1/24 of control families (p < .01). We conclude that there is an inherited tendency to faint since most children who faint have a first degree relative who faints, a useful fact in differential diagnosis. This inherited tendency may be multifactorial but requires an environmental stimulus for expression.

Increased Erythrocyte Lithium-Sodium Countertransport in Essential Hypertension: Its Relationship to Family History of Hypertension

1981 ◽  
Vol 61 (s7) ◽  
pp. 13s-15s ◽  
Author(s):  
M. Canali ◽  
L. Borghi ◽  
E. Sani ◽  
A. Curti ◽  
A. Montanari ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Essential Hypertension ◽  
Family History ◽  
High Blood Pressure ◽  
Degree Relative ◽  
Mean Values ◽  
The Family ◽  
History Of ◽  
Family History Of Hypertension ◽  
And Control

1. Erythrocyte lithium—sodium counter-transport was measured in 46 normotensive healthy controls without family history of hypertension, 15 subjects with essential hypertension, but without evidence of family history of high blood pressure, and 43 subjects with essential hypertension and at least one hypertensive first-degree relative. 2. Mean values (mmol h−1 l−1 of erythrocytes) were 0.248 ± 0.092 in controls, 0.258 ± 0.087 in hypertensive subjects without family history (not significant vs controls), 0.360 ± 0.115 in hypertensive subjects with family history of hypertension (P &lt; 0.001 vs controls), 0.334 ± 0.117 in all hypertensive subjects, both with and without family history (P &lt; 0.001 vs controls). 3. Our data confirm the finding of an increased erythrocyte lithium-sodium counter-transport, but with a significant overlap between essential hypertension and control values. Lithium-sodium countertransport is higher only in hypertensive subjects with at least one hypertensive first-degree relative. 4. We suggest that the increase of lithium-sodium countertransport in erythrocytes is not a consistent marker of essential hypertension. It seems to be associated with the family prevalence and/or the hereditability of hypertension, rather than with high blood pressure per se.

scholarly journals Diabetic ketoacidosis at diagnosis: role of family history and class II HLA genotypes

2013 ◽  
Vol 168 (1) ◽  
pp. 107-111 ◽  
Author(s):  
Marco Marigliano ◽  
Anita Morandi ◽  
Maddalena Maschio ◽  
Silvia Costantini ◽  
Giovanna Contreas ◽  
...  
Keyword(s):  
Family History ◽  
Diabetic Ketoacidosis ◽  
Age At Diagnosis ◽  
Degree Relative ◽  
Family History Of Diabetes ◽  
Diabetes Onset ◽  
Hla Genotypes ◽  
History Of ◽  
Hla Dqa1 ◽  
Design And Methods

ObjectiveTo explore the relationship between family history of diabetes and frequency of diabetic ketoacidosis (DKA) at diagnosis and to analyze the possible association between HLA genotypes and DKA.Design and methodsWe recruited 510 children and adolescents aged <17 years with type 1 diabetes (T1D) and collected information on first-degree relative (FDR) history of T1D. DKA and severe DKA were defined as blood pH <7.30 and <7.10 at diabetes onset respectively. Risk categories for developing T1D were determined according to various HLA DQA1-DQB1 haplotype combination genotypes.ResultsThe frequency of DKA and severe DKA at diagnosis was 34.7 and 7.2% respectively. DKA was more frequent in younger patients (<2 years (60.0%; P<0.001)) and occurred less in children with at least one FDR affected by T1D (13.0 vs 37.4%, P<0.001). The logistic regression showed that age at diagnosis (<2 years) and increased HLA-associated risk genotypes were independent predictors of DKA (P<0.01, odds ratio (OR)=1.068 (95% confidence interval (CI) 1.021–1.117); P<0.05, OR=1.606 (95% CI 1.034–2.475)). Introducing the presence of T1D in at least one FDR in the logistic model, a significant association between DKA and age at diagnosis (<2 years; P<0.01, OR=1.072 (95% CI 1.024–1.123)) and absence of FDRs with T1D (P=0.001, OR=4.287 (95% CI 1.770–10.383)) was found, but no more with increased HLA-associated risk genotype (P=0.06, OR=1.550 (95% CI 0.992–2.423)).ConclusionsHLA-associated high-risk genotypes are associated with a high chance of presenting DKA at diabetes onset. However, having at least one FDR with T1D reduced the risk of DKA regardless of HLA genotype.

Referral of early onset renal cell carcinoma for clinical cancer genetic assessment.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 613-613
Author(s):  
Lynda Corrigan ◽  
Trudi McDevitt ◽  
Andrew J. Green ◽  
David Barton ◽  
David J. Gallagher
Keyword(s):  
Family History ◽  
Early Onset ◽  
Age Of Onset ◽  
Cancer Genetics ◽  
Early Age ◽  
Clinical Genetics ◽  
Number Of Patients ◽  
History Of ◽  
Genetic Assessment ◽  
Genetics Referral

613 Background: Approximately 1-8% of renal cell carcinomas (RCCs) are associated with inherited predisposition. No consensus referral guideline exists for genetic assessment for RCC. Early age of onset, the presence of a family history and type II papillary RCC should trigger clinical genetics referral. We investigated the pattern of cancer genetics referral for early-onset RCC in Ireland. Methods: The number of patients with RCC diagnosed under the age of 50 between 2005 and 2013, was obtained from the National Cancer Registry of Ireland. RCC was defined by the WHO/IARC Classification. The number of patients referred for genetic work-up with RCC < 50 years of age was ascertained from The National Centre for Medical Genetics. Individuals unaffected by RCC but with a family history of RCC were excluded. The database was searched using the following search terms: Von Hippel-Lindau (VHL), Birt-Hogg-Dube (BHD) and RCC; and the clinical reason for referral recorded. Results: 580 patients were diagnosed with RCC below the age of 50. 71 percent were between 40 and 49 years of age (n=410). 52 patients were referred to The National Centre for Medical Genetics. Indications for referral are listed in Table 1. 7 patients were referred for a diagnosis of RCC < 50 years of age. The average age of these patients was 37.8 years. Three of the referrals were for early age of onset of RCC; two referrals were made for early age of onset with a family history of RCC; and two with early onset RCC and bilateral RCCs. This represents a referral rate of approximately 0.01% for early onset RCC in Ireland. Conclusions: Most early onset RCC is not referred for clinical cancer genetics assessment. The heritability of RCC is incompletely understood. Improved referral patterns, increased clinical genetics assessment and a better understanding of the genetic aetiology of RCC may have preventive and therapeutic implications for this disease. [Table: see text]

scholarly journals Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

2021 ◽  
Vol 22 (9) ◽  
pp. 4700
Author(s):  
Michelle M. Monasky ◽  
Emanuele Micaglio ◽  
Giuseppe Ciconte ◽  
Ilaria Rivolta ◽  
Valeria Borrelli ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Electrophysiological Study ◽  
Functional Characterization ◽  
The Family ◽  
Novel Variant ◽  
History Of ◽  
Scn5a Gene

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history in diagnosis and risk stratification. The family history was collected for a proband who presented with a personal history of aborted cardiac arrest and in whom a novel variant in the SCN5A gene was found. Living family members underwent ajmaline testing, electrophysiological study, and genetic testing to determine genotype-phenotype segregation, if any. Patch-clamp experiments on transfected human embryonic kidney 293 cells enabled the functional characterization of the SCN5A novel variant in vitro. In this study, we provide crucial human data on the novel heterozygous variant NM_198056.2:c.5000T>A (p.Val1667Asp) in the SCN5A gene, and demonstrate its segregation with a severe form of BrS and multiple sudden deaths. Functional data revealed a loss of function of the protein affected by the variant. These results provide the first disease association with this variant and demonstrate the usefulness of genetic testing for diagnosis and risk stratification in certain patients. This study also demonstrates the usefulness of collecting the family history, which can assist in understanding the severity of the disease in certain situations and confirm the importance of the functional studies to distinguish between pathogenic mutations and harmless genetic variants.

A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

Association between gastric cancer and the family history of gastric cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hyo Geun Choi ◽  
Wook Chun ◽  
Kuk Hyun Jung
Keyword(s):  
Gastric Cancer ◽  
Family History ◽  
The Family ◽  
History Of

Family history of prostate cancer in patients with localized prostate cancer: an independent predictor of treatment outcome.

1997 ◽  
Vol 15 (4) ◽  
pp. 1478-1480 ◽  
Author(s):  
P A Kupelian ◽  
V A Kupelian ◽  
J S Witte ◽  
R Macklis ◽  
E A Klein
Keyword(s):  
Prostate Cancer ◽  
Treatment Outcome ◽  
Family History ◽  
Treatment Modality ◽  
Proportional Hazards ◽  
Positive Family History ◽  
Specific Antigen ◽  
Tumor Stage ◽  
Degree Relative ◽  
History Of

PURPOSE To determine if familial prostate cancer patients have a less favorable prognosis than patients with sporadic prostate cancer after treatment for localized disease with either radiotherapy (RT) or radical prostatectomy (RP). PATIENTS AND METHODS One thousand thirty-eight patients treated with either RT (n = 583) or RP (n = 455) were included in this analysis. These patients were noted as having a positive family history if they confirmed the diagnosis of prostate cancer in a first-degree relative. The outcome of interest was biochemical relapse-free survival (bRFS). We used proportional hazards to analyze the effect of the presence of family history and other potential confounding variables (ie, age, treatment modality, stage, biopsy Gleason sum [GS], and initial prostate-specific antigen [iPSA] levels) on treatment outcome. RESULTS Eleven percent of all patients had a positive family history. The 5-year bRFS rates for patients with negative and positive family histories were 52% and 29%, respectively (P < .001). The potential confounders with bRFS rates were iPSA levels, biopsy GS, and clinical tumor stage; treatment modality and age did not appear to be associated with outcome. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. CONCLUSION This is the first study to demonstrate that the presence of a family history of prostate cancer correlates with treatment outcome in a large unselected series of patients. Our findings suggest that familial prostate cancer may have a more aggressive course than nonfamilial prostate cancer, and that clinical and/or pathologic parameters may not adequately predict this course.

scholarly journals Prostate cancer screening characteristics in men with BRCA1/2 mutations attending a high-risk prevention clinic

2014 ◽  
Vol 8 (11-12) ◽  
pp. 783 ◽  
Author(s):  
Richard Walker ◽  
Alyssa Louis ◽  
Alejandro Berlin ◽  
Sheri Horsburgh ◽  
Robert G. Bristow ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
High Risk ◽  
Prostate Cancer Screening ◽  
Brca2 Mutation ◽  
Aggressive Disease ◽  
Mutation Carriers ◽  
The Family ◽  
History Of ◽  
Prevention Clinic

Introduction: The prostate-specific antigen (PSA) era and resultant early detection of prostate cancer has presented clinicians with the challenge of distinguishing indolent from aggressive tumours. Mutations in the BRCA1/2 genes have been associated with prostate cancer risk and prognosis. We describe the prostate cancer screening characteristics of BRCA1/2 mutation carriers, who may be classified as genetically-defined high risk, as compared to another high-risk cohort of men with a family history of prostate cancer to evaluate the utility of a targeted screening approach for these men.Methods: We reviewed patient demographics, clinical screening characteristics, pathological features, and treatment outcomes between a group of BRCA1 or BRCA2 mutation carriers and age-matched men with a family history of prostate cancer followed at our institutional Prostate Cancer Prevention Clinic from 1995 to 2012.Results: Screening characteristics were similar between the mutation carriers (n = 53) and the family history group (n = 53). Some cancers would be missed in both groups by using a PSA cut-off of >4 ug/L. While cancer detection was higher in the family history group (21% vs. 15%), the mutation carrier group was more likely to have intermediate- or high-risk disease (88% vs. 36%). BRCA2 mutation carriers were more likely to have aggressive disease, biological recurrence, and distant metastasis.Conclusions: In our cohort, regular screening appears justified for detecting prostate cancer in BRCA1 and BRCA2 carriers and other high-risk populations. Lowering PSA cut-offs and defining monitoring of PSA velocity as part of the screening protocol may be useful. BRCA2 is associated with more aggressive disease, while the outcome for BRCA1 mutation carriers requires further study. Large multinational studies will be important to define screening techniques for this unique high-risk population.

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