Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients

Leone, Paola; Vega, María Elena; Jervis, Paola; Pestaña, Ángel; Alonso, Javier; Paz‐y‐Miño, César

doi:10.1007/s10038-003-0092-5

Cited by 12 publications

(8 citation statements)

References 15 publications

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“…The hRAD54 , hMSH2 , ABCB1 , ABCC5 , COL18A1 , and SLC19A1 genes were consistent with lymphoma and leukemia in Latin Americans [153,154,155,156], as well as some Caucasians and Asians [157,158,159,160]. The RB1 gene was related with retinoblastoma in Latin Americans [161,162], and the TNFα and TP53 genes with cervical cancer [163,164,165,166,167,168]. …”

Section: Germline Cancer Predisposition In Latin Americamentioning

confidence: 99%

State of Art of Cancer Pharmacogenomics in Latin American Populations

López‐Cortés

Guerrero

Redal

et al. 2017

IJMS

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Over the past decades, several studies have shown that tumor-related somatic and germline alterations predicts tumor prognosis, drug response and toxicity. Latin American populations present a vast geno-phenotypic diversity due to the great interethnic and interracial mixing. This genetic flow leads to the appearance of complex characteristics that allow individuals to adapt to endemic environments, such as high altitude or extreme tropical weather. These genetic changes, most of them subtle and unexplored, could establish a mutational profile to develop new pharmacogenomic therapies specific for Latin American populations. In this review, we present the current status of research on somatic and germline alterations in Latin America compared to those found in Caucasian and Asian populations.

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Section: Germline Cancer Predisposition In Latin Americamentioning

confidence: 99%

State of Art of Cancer Pharmacogenomics in Latin American Populations

López‐Cortés

Guerrero

Redal

et al. 2017

IJMS

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“…Rb is caused by mutations of the RB1 gene altering functional proteins, triggering cell division in the retina, and leading to the development of tumors [23]. According to , a previous study in Ecuadorians with Rb has described new mutations and SNPs [24]. For instance, a mutation found in exon 15 with a replacement of G to A (g.76920 G>A), and a mutation found in exon 22 with a replacement of T to C (g.IVS22-14 T>C).…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms in the Ecuadorian population with retinoblastoma

Leone¹,

Guevara-Ramírez²,

Quevedo³

et al. 2019

Preprint

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Background Retinoblastoma is a neoplasia that starts in the retina and may have inheritable or sporadic genetic predisposition. This affects children, mainly those who are under 5 years old. Approximately 9,000 new cases are diagnosed per year worldwide. In Ecuador this disease has an incidence of 1 per each 20,000 live births. The genetic predisposition to develop retinoblastoma is strongly influenced by RB1 gene, and may be influenced by the presence of genetic polymorphisms which intervene in the DNA repair system. Methods This study has analyzed the genotype frequency of ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln), and XRCC3 (Thr241Met) polymorphisms of different repair genes, genotyping 90 individuals affected with retinoblastoma and 80 healthy individuals through polymerase chain reaction / restriction fragments length polymorphism and sequencing analysis. Results The presence of the (C/C) mutant homozygous genotype of XPC (Lys939Gln) polymorphism triggers a significant risk of developing retinoblastoma with an odds ratio (OR) of 3 (CI: 1.22-9.84; p < 0.05). Likewise, the A/G heterozygous genotype and the combination A/G+G/G of XRCC1 (Arg399Gln) polymorphism presented ORs of 9.7 (CI: 4.45-21.08; p < 0.001) and 7.55 (IC: 3.57-16; p < 0.001), respectively. Conclusions The genetic variants XPC (Lys939Gln) and XRCC1 (Arg399Gln) may be associated with the risk of developing retinoblastoma in the Ecuadorian population.

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“…Any form of radiation for investigation (like X-ray, CT scan) or treatment has to be preferably avoided in all germline cases, due to probable increased risk of second malignancies. Besides North America and Germany, RB1 mutations have been reported from various populations around the world like, Argentina (10), Brazil (11), China (12,13), Colombia (14), Ecuador (15), Egypt (16), India (17)(18)(19)(20)(21), Iran (22), Israel (23,24), Italy (25), Korea(26), Netherlands (27), Spain (28,29), Malaysia (30), Mexico(31), Morocco(32), New Zealand (33), Pakistan(34), Swiss (35), Tunisia(36) Singapore(37) Thailand (38) and United Kingdom (39). Out of ve earlier studies from India, stratifying genetic tests is an option suggested by Thirumalairaj et al (40).…”

Section: Read Full Licensementioning

confidence: 99%

Retinoblastoma Mutational Screening in India: Opportunities and Challenges in Clinical Decisions and Genetic Counselling

Gupta¹,

Malaichamy²,

Mallipatna³

et al. 2021

Preprint

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Background: India accounts for 20% of the global retinoblastoma (RB) burden. Existing data is sparse on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods: Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity and recurrence. Results: Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands (79%), inclusive of 3 novel mutations, previously reported 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p=0.021), progression (p=0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. Conclusions: We identified novel RB1 mutations and our mutation detection rate was at par with previous robust global studies. Genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India.

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Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients

Cited by 12 publications

References 15 publications

State of Art of Cancer Pharmacogenomics in Latin American Populations

State of Art of Cancer Pharmacogenomics in Latin American Populations

Evaluation of the ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms in the Ecuadorian population with retinoblastoma

Retinoblastoma Mutational Screening in India: Opportunities and Challenges in Clinical Decisions and Genetic Counselling

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