Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan

Yousef, Yacoub A.; Tbakhi, Abdelghani; Al‐Hussaini, Maysa; Al-Nawaiseh, Ibrahim; Saab, Ala; Afifi, A; Naji, Maysa; Mohammad, Mona; Deebajah, Rasha; Jaradat, Imad; Sultan, Iyad; Mehyar, Mustafa

doi:10.1007/s10689-017-0027-5

Cited by 16 publications

(7 citation statements)

References 33 publications

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“… 15 , 16 In contrast, the mean age of diagnosis was 10 to 12 months for the patients in our study and others, and the detection rate was high using the first step ( Table 3 ). 18 , 26 , 27 The later ages of diagnosis in India and Vietnam might relate to delayed presentation and high detection rate of step 2.…”

Section: Discussionmentioning

confidence: 99%

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Rojanaporn

Chitphuk

Iemwimangsa

et al. 2022

Trans. Vis. Sci. Tech.

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Purpose The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study. Methods A stepwise method was created on the basis of “hotspot” exons analyzed using data on germline RB1 mutation in the RB1 –Leiden Open Variation Database and then tested for mutation screening in the blood DNA of 42 patients with RB. The method was compared with the clinical next-generation sequencing (NGS) panel in terms of sequencing outcomes. The germline RB1 mutation was examined in association with multifocality in RB. Results Germline RB1 mutation was identified in 61% of all bilateral cases in the first step of the 3 stepwise method and in 78% and 89% for the two and three steps combined, respectively. NGS detected a mosaic variant of RB1 that was not detected by the first two steps and increased the sensitivity from 78% to 83%. Analysis of the relationship between mutation status and tumor focality indicated that multifocality in RB was dependent on germline RB1 mutation, confirming a higher tendency to have a germline RB1 mutation in patients with multifocal RB. Conclusions A 3 stepwise method reduces the workload needed for sequencing of the RB1 for bilateral cases. NGS outweighs conventional sequencing in terms of the identification of germline mosaic variants. Multifocal tumors in RB may be used to presume germline mutation. Translational Relevance The presence of “hotspot” exons of germline RB1 mutation in bilateral cases facilitates a mutation screening. However, when genetic testing is not available, multifocality in RB regardless of tumor laterality is predictive of germline RB1 mutation.

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Section: Discussionmentioning

confidence: 99%

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Rojanaporn

Chitphuk

Iemwimangsa

et al. 2022

Trans. Vis. Sci. Tech.

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“…A well‐trained genetic counselor with a focus on high‐risk BC patients was recruited. However; other malignancies managed at KHCC including retinoblastoma (Yousef et al, ), and pediatric brain tumors (Amayiri et al, ), among others, are also known to have genetic predisposition. There is an urgent need for more trained genetic counselors to properly educate and counsel patients and families when needed.…”

Section: Practical Implicationsmentioning

confidence: 99%

Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie

Al‐Hussaini

Ammar

Kasasbeh

et al. 2019

Journal of Genetic Counseling

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Celebrities' health decisions have long been associated with heightened awareness and health trend changes. This is the first study conducted in an Arab population investigating the impact of international celebrity news on local communities using the case of Angelia Jolie's (AJ) prophylactic mastectomy and oophorectomy surgeries. The objective was to measure the effect of publicized medical information on cancer genetic testing knowledge, attitudes, and practices (KAP). This is a cross‐sectional study using a semi‐structured, self‐administered questionnaire for clinic visitors at the King Hussein Cancer Center (KHCC). We had predominantly female (n = 262, 66.3%) and healthy participants (n = 248, 66.5%). Approximately 80.7% (n = 330) recognized AJ, the actress, and of these, 71% (n = 232) were aware of her recent diagnosis and prophylactic surgeries. Males reported a higher knowledge score (p < .001). However, females had more initiative to seek information (18.3% vs. 10.1%; p = .04). People aware of Angelina's prophylactic procedures were inclined to seek information regarding cancer genetics (20.8% vs. 9.6% p = .003). Breast and ovarian cancer patients were more likely than other cancer patients to encourage family members to undergo prophylactic surgery in case of BRCA1/2 mutations (39.2% vs. 17.1% p = .03). Ninety‐three percent of the sample lacked knowledge regarding the availability of cancer genetic testing in Jordan. Results highlight a clear effect of celebrity medical news on our population, as well as openness to consider genetic testing as an early detection tool for women with a family history of breast and/or ovarian cancer. Generalization of these results to the population of Jordan requires further studies.

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“…This means that mutations in the RB1 gene are present in all cells of the body, including reproductive cells (sperm or ovule) (7) and rarely occur in triplet (a combination of unilateral or bilateral RB) (1). In the non-hereditary form, the risk of disease transmission is only 5%, while in the hereditary form, the risk increases to 50% (8). The only cause of RB is a mutation in the RB1 gene following point mutations (nonsense (frameshift, splicing missense) or mutation in the promoter region of the gene), and to date, no other factors have been reported to affect the onset of the disease (9,10).…”

Section: Introductionmentioning

confidence: 99%

The Concordance of Paternal and Maternal Retinoblastoma-1 Gene Mutation Pattern with Clinical Manifestation and Disease Staging in Patients Suffering from Retinoblastoma

Moghadam¹,

Faranoush²,

Moghadam³

et al. 2022

Zahedan J Res Med Sci

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Background: Retinoblastoma (RB) is a common neoplastic disease in children, leading to high mortality if not diagnosed and treated timely. Mutations in both versions of the Retinoblastoma1 (RB1) gene are responsible for this disease. A wide range of mutations has been reported throughout the RB1 gene. Objectives: The present study aimed to assess the concordance of paternal and maternal RB-1 gene mutation with clinical manifestation and disease staging in patients suffering from RB. Methods: This cross-sectional study was performed on 23 patients with unilateral or bilateral RB. Paternal and maternal peripheral blood samples were extracted for genome analysis. Information related to clinical manifestations and disease staging was collected from the patients’ hospital records. Multiplex-ligation dependent probe amplification (MLPA) method or Sanger sequencing method was employed to assess the gene mutation and its genomic pattern. Results: No significant association was revealed between the presence of both maternal and paternal RB1 gene mutations and the disease staging, while the study could show a significant relationship between the presence and heterozygous pattern of RB1 gene mutation and the presence of disease-related clinical manifestations that bilateral involvement was strongly associated with the presence of a heterozygous pattern of gene mutation compared to unilateral involvement (P = 0.001). Conclusions: This study showed a significant correlation between the presence of RB1 gene mutation and bilateral involvement in RB, but the association between the disease staging and gene mutation remains insignificant.

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Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan

Cited by 16 publications

References 33 publications

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Global celebrities' effect on health awareness among Jordanians: A study using the case of Angelina Jolie

The Concordance of Paternal and Maternal Retinoblastoma-1 Gene Mutation Pattern with Clinical Manifestation and Disease Staging in Patients Suffering from Retinoblastoma

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