scholarly journals Prevalence of Hereditary Cancer Susceptibility Syndromes (HCSS) in Acute Lymphoblastic Leukemia (ALL): A Cross-Sectional Study in a Highly Consanguineous Population.

2021 ◽  
Author(s):  
Sara Aslam ◽  
Shabana NA ◽  
Mehboob Ahmed
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Family History ◽  
Genetic Counselling ◽  
Cancer Susceptibility ◽  
Lymphoblastic Leukemia ◽  
P Value ◽  
Early Age ◽  
Parental Consanguinity ◽  
History Of ◽  
History Of Cancer

Abstract Background: Hereditary cancer susceptibility syndrome (HCSS) has been reported to impact cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and referring the patients and their families for genetic counselling. The aims of this study are to assess the prevalence of HCSS as hereditary leukemia and hematologic malignancy syndrome by using ACMG guidelines and to assess parental consanguinity as the criterion for referring patients for the genetic counselling. Methods: A total of 300 acute lymphoblastic leukemia subjects were recruited from the Children’s Hospital, Lahore, Pakistan during the period of December 2018 to September 2019. Structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection.Results: In our cohort, 60.40% of ALL patients were identified to have HCSS and among them 40.65% patients solely fulfil the criteria due to the presence of parental consanguinity. Parental consanguinity was shown to have protective impact on the onset at early age of disease [OD=0.44 (0.25-0.77), p-value= 0.00] while family history of cancer increase the risk of cardiotoxicity [OD= 2.46 (1.15-5.24), p-value=0.02]. Parental consanguinity in the population shows no significant impact on the family history of cancer and the number of relatives with cancer. Conclusions: The higher prevalence of HCSS in Pakistani population is attributed to the presence of parental consanguinity in more than 50% of the patients when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines for the criterion of parental consanguinity in the highly consanguineous population and formulating the score based criteria for the identification of inherited ALL for genetic counselling.

scholarly journals Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sara Aslam ◽  
Shabana ◽  
Mehboob Ahmed
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Cancer Susceptibility ◽  
Lymphoblastic Leukemia ◽  
Early Age ◽  
Pakistani Population ◽  
Parental Consanguinity ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

Abstract Background Hereditary cancer susceptibility syndrome (HCSS) contributes to the cancer predisposition at an early age, therefore, identification of HCSS has found to be crucial for surveillance, managing therapeutic interventions and refer the patients and their families for genetic counselling. The study aimed to identify ALL patients who meet the American College of Medical Genetics (ACMG) criteria and refer them for the genetic testing for HCSS as hereditary leukemia and hematologic malignancy syndrome, and to elucidate the significance of high consanguinity with the prevalence of inherited leukemia in Pakistani population. Methods A total of 300 acute lymphoblastic leukemia patients were recruited from the Children’s Hospital, Lahore, Pakistan from December 2018 to September 2019. A structured self-reporting questionnaire based on family and medical history of the disease was utilized for the data collection. Results In our cohort, 60.40% of ALL patients were identified to meet ACMG criteria. Among them, a large number of patients (40.65%) solely fulfil the criteria due to the presence of parental consanguinity. However, parental consanguinity showed protective impact on the onset at early age of disease [OD = 0.44 (0.25–0.77), p-value = 0.00] while, a family history of cancer increased the risk of cardiotoxicity [OD = 2.46 (1.15–5.24), p-value = 0.02]. Parental consanguinity shows no significant impact on the family history of cancer and the number of relatives with cancer. Conclusions More than 50% of the ALL patients were considered the strong candidates’ for genetic testing of HCSS in the Pakistani population, and parental consanguinity was the leading criteria fulfilled by the individuals when assessed through ACMG guidelines. Our study suggests revisiting ACMG guidelines, especially for the criterion of parental consanguinity, and formulating the score based criteria based on; genetic research, the toxicology profile, physical features, personal and family history of cancer for the identification of patients for the genetic testing.

Racial Disparities in Diffuse Large B Cell Lymphoma: A VA Population Study.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4614-4614
Author(s):  
Sanjay Maraboyina ◽  
Rami S. Komrokji ◽  
Rami Y. Haddad ◽  
Zeina A. Nahleh ◽  
Malek M. Safa
Keyword(s):  
Family History ◽  
Racial Disparities ◽  
Racial Differences ◽  
Wilcoxon Test ◽  
P Value ◽  
Medical Centers ◽  
Black Patients ◽  
History Of ◽  
History Of Cancer ◽  
Large B Cell

Abstract Background: Racial disparities in diffuse large B cell non-Hodgkin’s lymphoma (DLBCL) are not well studied. Racial differences in outcome are not well recognized given majority of patients with DLBCL are white. The VA health care system offers a platform to study those racial differences given similar other variables and socioeconomic status among those patients. Methods: This was a retrospective analysis. The VA Central Cancer Registry (VACCR) database was used to identify patients with DLBCL diagnosed between 1995 and 2005. There are approximately 120 VA medical centers diagnosing and/or treating patients with cancer. The VACCR aggregates the data collected by the medical centers’ cancer registries. Data were extrapolated and analyzed using bio-statistical software SPSS. Variables included age, sex, stage of disease, histology subtype, date of diagnosis, date of last contact, date of relapse, vital status, family history of cancer, tobacco history, alcohol history, Agent orange exposure and whether patients received chemotherapy and or radiation. Independent t test was used for comparing continuous variables and chi square test for categorical variables. Wilcoxon test was used to compare survival among the two groups. Results: There were 2792 patients with DLBCL at the VA system, 2402 white and 323 black patients. Sixty-seven patients from other racial groups were excluded from this analysis. The mean age of presentation among blacks was 57.8 years compared to 65.7 years among whites (P-value < 0.005). More Black patients had history of alcohol use, and smoking. More white patients had family history of cancer. No differences in histology subtypes were observed. Other baseline characteristics were similar. No difference in stage of disease was noted at presentation. IPI score data were not available. Similar proportion of patients received multi-agent chemotherapy among the two groups, 70 % for blacks and 67% for whites (P-value 0.58). Among blacks 16 % of patients received radiation while 19.5 % white patients did (P-value 0.73). The 5-year overall survival for blacks was 24 % compared to 29% for whites (P-value 0.92, Wilcoxon test). No statistically significant differences in survival were noted between the two races within each clinical stage. Using Cox regression multivariable analysis age, stage and chemotherapy were the only statistically significant independent variables affecting survival. Conclusions: DLBCL is less common among blacks. Blacks diagnosed with DLBCL are more likely to present at younger age. The treatment and outcome of DLBCL among blacks are not different from whites within the VA system.

Algorithm of monitoring of patients with family history of cancer as a method of cancer prevention

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 1542-1542
Author(s):  
V. D. Petrova ◽  
T. V. Sinkina ◽  
N. A. Zarubina ◽  
S. A. Terekhova ◽  
J. N. Dimitriadi ◽  
...  
Keyword(s):  
Family History ◽  
Cancer Prevention ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Molecular Genetic ◽  
Health Examination ◽  
Genetic Tests ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

1542 Background: Existent genetic tests are not able to provide effective forecasting of all cancer sites and all those methods are generally expensive. At the same time approximately 50% of population has cancer susceptibility and 10% - hereditary cancer syndromes. The purpose of this study was to develop the algorithm of monitoring to provide effective forecasting and prevention of cancer in patients with hereditary cancer susceptibility. Methods: The algorithm of monitoring of patients with family history of cancer includes 2 stage: I - diagnostic, II - treatment and rehabilitation. In the I stage patients with 3 and more relatives by blood who had cancers of any site are revealed by oncologist. Their genealogical trees are analyzed by geneticist. All those patients are registered in the registry of “cancer”-families’ members, interviewed and got all the necessary diagnostic procedures with the following multivariative analysis (of more than 200 geno- and phenotypic characteristics). Patients with determined high risk of malignancies undergo deep clinical and instrumental examination, site-by-site searching for cancer, molecular genetic tests. In the II stage individual recommendations for the patients are developed, pretumour lesions are treated, preventative surgery is performed (resection of a target organ) and the measures for strengthening of anti-tumour resistance are taken. All the patients of the registry get the periodic health examination for term of life: preventive examination once per 6 months, multivariative analysis once per 3 years. Results: The registry of “cancer”-families’ members included 421 families - 1833 patients (232 men and 1601 women at the age of 28–74). In 2003–2006 there were revealed obligatory pre-cancer lesions in 637 patients, cancers in situ - in 45 patients, and cancers of different sites - in 69 patients (in I stage - 78.3%, II stage - 18.9%, III stage - 2.8%, IV stage - 0). Conclusions: This algorithm of monitoring of the patients from the registry of “cancer”-families’ members made it possible to provide high effectiveness of cancer prevention and early detection. No significant financial relationships to disclose.

scholarly journals Familial aggregation of multiple sclerosis: Results from the national registry of the disease in Saudi Arabia

2020 ◽  
Vol 6 (4) ◽  
pp. 205521732096049
Author(s):  
Mohammed AlJumah ◽  
Hessa Al Otaibi ◽  
Ghada Al Towaijri ◽  
Ahmed Hassan ◽  
Abid Kareem ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Saudi Arabia ◽  
Family History ◽  
Environmental Factors ◽  
Familial Aggregation ◽  
Statistical Significance ◽  
National Registry ◽  
P Value ◽  
Parental Consanguinity ◽  
History Of

Background Multiple Sclerosis (MS) is a chronic CNS inflammatory disease commonly affecting young adults. Both genetics and environmental factors have been reported to have a role in pathophysiology of the disease. Objective This article aims to report familial nature and aspects of MS in Saudi Arabia. Method The study utilized data collected by the National Saudi MS Registry between 2015 and 2018; especially data relevant to the familial history of MS. SPSS 22 was used for all analysis and reporting. Statistical significance was set at p-value < 0.05. Results The registry included 20 hospitals and a total of 2516 patients from the different regions of Saudi Arabia with median age 32.00 (Range: 11–63) and 66.5% being female. About 12.8% of all registered patients reported a family history of MS (95%CI: 11.2-13.9). Reported parental consanguinity was significantly higher among patients with family history (FMS) (56.3%) compared to non-FMS patients (27.9%). 42.53% of FMS patients reported having siblings affected with MS (95%CI: 37.01–48.21), with more female siblings affected than males (63.4% vs 36.6% respectively). Conclusion Our Findings suggested that FMS was less prevalent than what was reported previously; however, parental consanguinity was significantly more prevalent among FMS patients than non-FMS. Our findings were in line with those reported in recent studies in the region, but lower than those reported by western countries indicating that increasing prevalence of MS in Saudi Arabia could be multifactorial and other environmental factors should be considered for understanding this recent rise in the prevalence of MS in Saudi Arabia.

Stability of Self-Reported Family History of Prostate Cancer Among African American Men

2002 ◽  
Vol 10 (1) ◽  
pp. 39-46 ◽  
Author(s):  
Sally P. Weinrich ◽  
Louise Faison-Smith ◽  
Julie Hudson-Priest ◽  
Charmaine Royal ◽  
Isaac Powell
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Family History ◽  
Low Income ◽  
Susceptibility Testing ◽  
Cancer Susceptibility ◽  
African American Men ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

The genome-wide search for the prostate cancer gene holds the promise of the availability of prostate cancer susceptibility testing in the near future. When this occurs, self-reported history of prostate cancer will be critical in determining who is eligible for cancer susceptibility testing. Little attention has been given to the reliability of self-reported family history of prostate cancer, particularly in African American men. This correlational study measured the stability of self-reported family history of prostate cancer over a one-year time period (between 1997 and 1998) with 96 African American men from a southern state. The men were asked on two separate occasions, 1 year apart, “Have any of your men blood relatives ever had prostate cancer?” The question had a prior test-retest reliability of 0.85 over a 2-week period. Forty-eight percent of the men changed their answers on the second administration. Men most likely to change their answers were low-income men and men who did not participate in a free prostate cancer screening. This research highlights the need for public genetic education and the recognition by health professionals that self-reported family history of cancer is a variable that changes as families have increased awareness and communication concerning family history of cancer.

scholarly journals Knowledge and Awareness Regarding Premarital Screening of β-thalassemia among Undergraduate Students in Bangladesh

2021 ◽  
Vol 4 (01) ◽  
Author(s):  
Samina Pervin ◽  
Hafiza Sultana ◽  
Tanvir Ahmed ◽  
Aysha Haque ◽  
Md. Golam Abbas ◽  
...  
Keyword(s):  
Family History ◽  
Undergraduate Students ◽  
Statistical Significance ◽  
Family Type ◽  
P Value ◽  
Parental Consanguinity ◽  
Premarital Screening ◽  
History Of ◽  
Level Of Knowledge ◽  
Blood Screening

Introduction: Thalassemia is the most common congenital single gene disorder in Bangladesh. Considering the nature of the disease inherited from parents, thalassemia can effectively be prevented by premarital blood screening before marriage. The aim of the study was to assess the level of knowledge and awareness regarding premarital screening of β-thalassemia among undergraduate students. Materials and Methods: This cross sectional study was conducted among conveniently selected 156 undergraduate students of 2 universities at Dhaka University and American International University-Bangladesh (AIUB) from January to December 2019. Data were collected by pretested semi-structured questionnaire through face to face interview. Data was analyzed using SPSS software version 23.   Results: It was found that about 49.5%, 43.6% and 7.1% of respondents had poor, average and good knowledge about premarital screening of β-thalassemia respectively where there was statistical significance between the  level of knowledge and the parental consanguinity and the family history of thalassemia (p-value<.05). On the other hand, 66.7%, 32.1% and 1.3% had poor, average and good awareness in this regards respectively. The level of awareness was significantly associated with the parental consanguinity, family history of thalassemia, monthly income and family type (p-value<.05).   Conclusion: This study showed knowledge and awareness levels among undergraduate students regarding premarital screening of β-thalassemia were insufficient. The thalassemia prevention can be enhanced by a well-organized educational program focusing on thalassemia and early screening in young adults.   Keywords: Thalassemia; gene disorder; premarital blood screening

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