Family history of breast cancer (BC) and biological and clinicopathologic features in Uruguayan BC patients

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e11622-e11622
Author(s):  
C. Castillo ◽  
N. Artagaveytia ◽  
S. Mauriz ◽  
C. Meyer ◽  
G. Sena ◽  
...  
Keyword(s):  
Family History ◽  
Axillary Node ◽  
Her2 Status ◽  
Published Data ◽  
Significant Family History ◽  
The Family ◽  
History Of ◽  
Disease Extension ◽  
Close Relatives ◽  
And Behavior

e11622 Background: Hereditary BC can have a distinct phenotype and behavior in comparison to sporadic BC. The aim of the present study was to investigate if there is any difference in the age at diagnosis, disease extension and biological profile in BC patients (pts) with or without a significant family history of BC. Methods: We retrospectively reviewed clinical charts of BC pts, stage 0- III who had surgery between March 2006 and March 2008. We included pts with known estrogen receptor (ER), progesterone receptor (PR) and HER2 status. The family history was obtained from the clinical charts and confirmed by a telephone interview with a standardized questionnaire. A significant family history of BC was defined by the presence of one of the following criteria: (1) 3 or more BC cases among close relatives, at least one diagnosed before 50 years (2) 2 BC cases among close relatives, at least one diagnosed before 50 years and one of the following: bilateral BC, ovarian cancer diagnosed in the family, male BC, father´s inheritance, Ashkenazi Jewish ancestry Results: 435 pts were identified, with available data on ER/PR and HER2 status in 197 pts. Family history was evaluated in 136 pts (69%) and was classified as significant in 18 (13.2%). Between pts with and without a significant family history of BC cancer there were no difference in the proportion of pts < 50 years old at diagnosis (0.36 vs. 0.39), T3/T4 tumours (0.08 vs. 0.11), axillary node positivity (0.55 vs 0.66), ER/PR+ (0.77 vs. 0.72), HER2 + (0.11 vs. 0.11) and triple negative tumors (0.19 vs 0.17). Conclusions: our data does not show any difference in the main prognostic and predictive factors between operable BC pts with and without a significant family history of BC. These findings are concordant with previous published data about a greater prevalence of BRCA2 mutations in Uruguayan families. No significant financial relationships to disclose.

scholarly journals Evaluation of attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history

2017 ◽  
Vol 98 (5) ◽  
pp. 701-703
Author(s):  
Z U Aliev
Keyword(s):  
Family History ◽  
Age Groups ◽  
Attributable Risk ◽  
Control Group ◽  
Tooth Position ◽  
Facial Anomalies ◽  
The Family ◽  
History Of ◽  
The Difference ◽  
Close Relatives

Aim. To assess the attributable risk of dentoalveolar and facial anomalies prevalence among children depending on the features of family history. Methods. A sample of 2000 children was selected (250 boys and 250 girls from 4 age groups: 3-5, 6-9, 10-12 and 13-15 years). Characteristics of the family history was obtained by parents’ survey. The risk of dentoalveolar and facial anomalies was determined by comparing their frequency between groups with compromised and normal family history. Attributable risk was defined as the difference in the frequency of dentoalveolar and facial anomalies. Results. The number of teeth with abnormal position per 100 examined patients ranged widely: from 72.3±1.1 to 105.4±5.3. Depending on various characteristics of the family history, the attributable risk of anomalous tooth position varied in the range from 3.0 to 33.1 per 100 children. The highest attributable risk of anomalies of the tooth position in children was revealed in cases when their parents had a history of dentoalveolar and facial anomalies (33.1%). In the presence of close relatives’ history of dentoalveolar and facial anomalies (except grandparents) attributable risk of anomalies of the tooth position in children was 11.4-14.8%. In the groups of children, whose grandparents had a history of dentoalveolar and facial anomalies, the prevalence of anomalies of the tooth position (80.9±2.0 per 100 children) was not significantly different from that in the control group (77.9±1.0). It can be explained by the fact that during the parents’ survey they were not able to state with certainty grandparents’ history of dentoalveolar and facial anomalies. Conclusion. Compromised family history in children is associated with high attributable risk of anomalies of occlusion and tooth position.

scholarly journals How should we construct psychiatric family history scores? A comparison of alternative approaches from the Dunedin Family Health History Study

2008 ◽  
Vol 38 (12) ◽  
pp. 1793-1802 ◽  
Author(s):  
B. J. Milne ◽  
T. E. Moffitt ◽  
R. Crump ◽  
R. Poulton ◽  
M. Rutter ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Research ◽  
Family Health ◽  
Significant Family History ◽  
First Degree Relatives ◽  
Health History ◽  
Public Health Screening ◽  
The Family ◽  
History Of ◽  
Strength Of Association

BackgroundThere is increased interest in assessing the family history of psychiatric disorders for both genetic research and public health screening. It is unclear how best to combine family history reports into an overall score. We compare the predictive validity of different family history scores.MethodProbands from the Dunedin Study (n=981, 51% male) had their family history assessed for nine different conditions. We computed four family history scores for each disorder: (1) a simple dichotomous categorization of whether or not probands had any disordered first-degree relatives; (2) the observed number of disordered first-degree relatives; (3) the proportion of first-degree relatives who are disordered; and (4) Reed's score, which expressed the observed number of disordered first-degree relatives in terms of the number expected given the age and sex of each relative. We compared the strength of association between each family history score and probands' disorder outcome.ResultsEach score produced significant family history associations for all disorders. The scores that took account of the number of disordered relatives within families (i.e. the observed, proportion, and Reed's scores) produced significantly stronger associations than the dichotomous score for conduct disorder, alcohol dependence and smoking. Taking account of family size (i.e. using the proportion or Reed's score) produced stronger family history associations depending on the prevalence of the disorder among family members.ConclusionsDichotomous family history scores can be improved upon by considering the number of disordered relatives in a family and the population prevalence of the disorder.

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.

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

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.

HEREDITARY AND ENVIRONMENTAL FACTORS IN THE PATHOGENESIS OF RHEUMATIC FEVER

PEDIATRICS ◽  
1957 ◽  
Vol 19 (5) ◽  
pp. 908-915
Author(s):  
Eugene F. Diamond
Keyword(s):  
Family History ◽  
Rheumatic Fever ◽  
Autosomal Recessive ◽  
Positive Family History ◽  
Recessive Gene ◽  
Environmental Groups ◽  
Environmental Group ◽  
The Family ◽  
History Of ◽  
Unfavorable Environmental Factor

A study of cases of rheumatic fever admitted to La Rabida Sanitarium over a 5-year period was carried out to evaluate heredity and environment as etiologic factors in rheumatic disease. The incidence of rheumatic fever was shown to be higher in families where one or both parents were known to have a positive family history of rheumatic fever. The incidence of rheumatic fever was compared in environmental groups. A totally unfavorable environment was shown to increase the incidence of rheumatic fever. No single unfavorable environmental factor changed the incidence of rheumatic fever. The incidence of rheumatic fever in each environmental group was higher when there was a positive family history for rheumatic fever, indicating an hereditary factor in the family incidence of rheumatic fever. Analysis of the various mating types in the families with a positive rheumatic trait was carried out. Agreement with a simple autosomal recessive gene inheritance was obtained in families where both parents had a definite family history, but no agreement was obtained in cases where only one parent gave a positive family history.

A Sax Is Born

2019 ◽  
pp. 3-10
Author(s):  
Con Chapman
Keyword(s):  
Family History ◽  
Birth Certificate ◽  
The South ◽  
The Family ◽  
History Of

This chapter provides data regarding Cornelius Hodges’s birth and traces his family history to his grandparents’ generation. Confusion as to the exact spelling of his last name (“Hodges,” not “Hodge”) is resolved by reference to his birth certificate. Census records reveal that, contrary to prior accounts of his life, he had not one sister but three, all older. The change in his name from “Cornelius” to “Johnny” is discussed, along with the seven nicknames that he was given by colleagues. The chapter also details the history of the Cambridge, Massachusetts, neighborhood where he was born—Cambridgeport—and of the South End of Boston, to which the family would move when he was twelve, after a stop in North Cambridge that has been overlooked in prior accounts of his life.

Plot and Theme in the Book of Ruth

2018 ◽  
Author(s):  
J. Andrew Dearman
Keyword(s):  
Family History ◽  
Short Story ◽  
Narrative Analysis ◽  
National History ◽  
The Family ◽  
History Of ◽  
The Town

This chapter explores plot and theme in the book of Ruth as an example of narrative analysis. The book is identified as a short story with a dilemma facing the family of Elimelech from the town of Bethlehem and the tribe of Judah. The family history of Elimelech and the role of the Moabite Ruth in it are examined first as a self-contained narrative and then in the context of Israel’s national history. The family dilemma is resolved with the birth of an heir for the family of Elimelech and the contribution of the family to the tribe of Judah to Israel’s national storyline is further revealed in the kingship of David, a descendant of Elimelech and Ruth.

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