Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population

Jastaniah, Wasil; Al‐Jefri, Abdullah; Ayas, Mouhab; Alharbi, Musa; Alkhayat, Nawaf; Al-Anzi, Faisal; Yassin, Fawwaz; Alkasim, Fawaz; Alharbi, Qasim; Alaqel, Shaker; Abrar, Mohammed Burhan; Alsultan, Abdulrahman

doi:10.1016/j.canep.2018.05.006

Cited by 17 publications

(20 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1). A previous study conducted in the highly consanguineous population of Saudi Arabia using the ACMG practice guideline has identi ed 40% cancer patients with HCSS that is lower than the Pakistani population (12). This may be due to the fact that our study population focus only the childhood ALL while the study subjects in Jastaniah and coworkers, comprise of all the cancers diagnosed in multi-institutions in Saudi Arabia.…”

Section: Discussionmentioning

confidence: 91%

“…However, Knapke et al, reported 29% of the survivors of childhood cancer to have HCSS and due to the presence of the familial history of cancer (11). The assessment of hereditary cancer susceptibility syndromes (HCSS) as hereditary leukemia and hematologic malignancy syndromes was found crucial for patients with familial history of cancer in rst and second degree relatives (12).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Aslam

Ahmed

2021

Preprint

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

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

Aslam

Ahmed

2021

Preprint

View full text Add to dashboard Cite

show abstract

“…Being overweight and obesity during childhood is associated with obesity in adulthood and a wide range of chronic diseases at a younger age such as cancer, diabetes, hypertension, cardiovascular disease, sleep apnea, and musculoskeletal conditions (Villarosa et al, 2018). Prior studies have confirmed a strong association between consanguineous offspring and genetic disorders/diseases, especially compared with non-consanguineous couples (Alnaqeb et al, 2018), including being prone to cancer (Jastaniah et al, 2018). Earlier studies also documented that parental consanguinity can lead to many multiple diseases, further highlighting the need for the present study.…”

Section: Discussionmentioning

confidence: 99%

Screening for obesity in the offspring of first-cousin consanguineous couples: A Phase-I study in Saudi Arabia

Alharbi

Al‐Sheikh

Alsaadi

et al. 2020

Saudi Journal of Biological Sciences

View full text Add to dashboard Cite

Consanguineous or cousin marriages are very common in Saudi Arabia. However, owing to limited studies and insufficient knowledge about genetic diseases/disorders, many couples are unaware of the increased health risks for their offspring. Among the inherited and complex diseases from parents’ consanguinity, obesity is common; therefore, we examined the prevalence of obesity in the offspring of first-cousin consanguineous couples in Saudi Arabia. In this questionnaire-based study, 657 individuals (mean age = 18.7 ± 10.2 years; age range = 2–65 years) who were residing in Riyadh, Saudi Arabia participated. Among them, almost 90% were native Saudis. Participants mean body mass index (BMI) was 24.5 ± 9.1 kg/m2. Sex- stratified demographic details confirmed a significant association between age and BMI (p < .001). We confirmed that adolescents and adults were more prone to develop obesity. Adults and non-Saudi participants were three times more likely to develop obesity if they had first-cousin consanguineous parents than those who did not. Of the 30% of participants who were obese, 100 will be selected for Phase II, in which we plan to perform exome sequencing.

show abstract

“…criteria for hereditary cancer syndrome. 36 Of these patients, consanguinity was reported in 629 (38%) of cases, with 50 (2.9%) first-degree, 535 (30.7%) second-degree, and 272 (15.6%) third-degree relatives afflicted. The data obtained in this study suggested that as many as 4/10 children with cancer in Saudi Arabia are afflicted with the hereditary form of the disease, due largely to consanguinity.…”

Section: Epidemiology Of Familial Cancer Syndrome In the Arab Worldmentioning

confidence: 99%

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

et al. 2020

View full text Add to dashboard Cite

The study of hereditary cancer, which accounts for~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.

show abstract

Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population

Cited by 17 publications

References 39 publications

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

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

Screening for obesity in the offspring of first-cousin consanguineous couples: A Phase-I study in Saudi Arabia

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

Contact Info

Product

Resources

About