Novel germinal mutation in NF1: case report

2021 ◽  
Author(s):  
Javier Arredondo Montero ◽  
Santiago López Arbues ◽  
Mónica Bronte Anaut ◽  
Lourdes Morales Garofalo ◽  
Fermín García
Keyword(s):  
Case Report ◽  
Germinal Mutation

Trilateral retinoblastoma: ocular and pineal retinoblastomas

1985 ◽  
Vol 63 (3) ◽  
pp. 367-370 ◽  
Author(s):  
Dennis L. Johnson ◽  
Roma Chandra ◽  
Wink S. Fisher ◽  
M. Kathryn Hammock ◽  
Craig A. McKeown
Keyword(s):  
Host Resistance ◽  
Early Mortality ◽  
Early Age ◽  
Pineal Tumor ◽  
Multicentric Occurrence ◽  
Content Type ◽  
Aggressive Management ◽  
Bilateral Retinoblastoma ◽  
Trilateral Retinoblastoma ◽  
Germinal Mutation

✓ Trilateral retinoblastomas, the syndrome of bilateral retinoblastoma associated with ectopic retinoblastoma in the pineal gland, is rare but well recognized. In contrast to bilateral retinoblastomas alone, the ocular retinoblastomas in trilateral retinoblastoma develop before the age of 6 months, and a family history positive for retinoblastoma is usually obtained. The retinal tumors are often quiescent at the time that the pineal tumor is discovered, and show no evidence of metastatic spread after enucleation of the globes. Pathologically, the pineal tumor is indistinguishable from the ocular retinoblastoma. The pathophysiology of this syndrome is not well understood, but a germinal mutation is thought to target photoreceptor tissue for further postzygotic mutation. Eventual expression depends on the inherited host resistance to the carcinogenic manifestation of these genes. The low host resistance of trilateral retinoblastoma is evident by the early age of presentation, the multicentric occurrence of the tumor, and the high early mortality rate despite aggressive management.

scholarly journals Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report

2019 ◽  
Vol 58 ◽  
pp. 92-95 ◽  
Author(s):  
Sara Mirandola ◽  
Francesca Pellini ◽  
Eleonora Granuzzo ◽  
Maya Lorenzi ◽  
Beatrice Accordini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Multidisciplinary Management ◽  
Lobular Breast Cancer ◽  
Germinal Mutation

In vivo detection of mouse germinal mutation induced by MMS treatment with minisatellite DNA probes

1993 ◽  
Vol 292 (3) ◽  
pp. 276
Author(s):  
T. Kikuno ◽  
M. Honma ◽  
Y. Kajiwara ◽  
S. Ogura ◽  
M. Hayashi ◽  
...  
Keyword(s):  
Dna Probes ◽  
Minisatellite Dna ◽  
In Vivo Detection ◽  
Germinal Mutation

scholarly journals RESPONSE TO NEOADYAVANT CHEMOTHERAPY WITH PLATINUM-BASED DRUGS IN BREAST CANCER PATIENTS WITH BRCA1 DELETION IN TUMOR

2019 ◽  
Vol 18 (3) ◽  
pp. 103-108
Author(s):  
M. M. Tsyganov ◽  
N. A. Tarabanovskaya ◽  
I. V. Deryusheva ◽  
M. K. Ibragimova ◽  
P. V. Kazantseva ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Survival Rates ◽  
Complete Response ◽  
Platinum Drugs ◽  
High Survival ◽  
Breast Cancer Patients ◽  
Determining Factors ◽  
Germinal Mutation ◽  
Deletion Frequency

Currently, the presence of the germinal mutation BRCA1 5382insC in breast cancer patients is one of the determining factors for prescribing platinum-based drugs. However, this type of mutation is found in no more than 10 % of patients, thus limiting the feasibility of administering platinum-based drugs. Various somatic changes in the BRCA1 gene in breast tumors, in particular the deletions of this gene, can play an important role in the tumor sensitivity to platinum drugs.Case description. We present the case of a 42-year-old woman diagnosed with breast cancer. The deletion of the BRCA1 gene was detected in the tumor. The patient had a complete response to preoperative chemotherapy according to the CP regimen.Conclusion. The frequency of the germline mutation of the BRCA1 gene does not exceed 10 %, and the deletion frequency of this gene can vary from 30 to 45 %, thus greatly increasing the feasibility of using platinum-based drugs in mutationnegative patients to achieve complete pathologic response and high survival rates.

scholarly journals ANALYSIS OF A MOUSE α-GLOBIN GENE MUTATION INDUCED BY ETHYLNITROSOUREA

Genetics ◽  
1983 ◽  
Vol 105 (1) ◽  
pp. 157-167
Author(s):  
R A Popp ◽  
E G Bailiff ◽  
L C Skow ◽  
F M Johnson ◽  
Susan E Lewis
Keyword(s):  
Amino Acid ◽  
Molecular Basis ◽  
Mutant Allele ◽  
Globin Gene ◽  
Single Amino Acid ◽  
Mutant Form ◽  
Starch Gel Electrophoresis ◽  
Starch Gel ◽  
Gel Isoelectric Focusing ◽  
Germinal Mutation

ABSTRACT A DBA/2 mouse treated with ethylnitrosourea sired an offspring whose hemoglobin showed an extra band following starch gel electrophoresis. The variant hemoglobin migrated to a more cathodal position in starch gel. Isoelectric focusing indicated that chain 5 of the mutant hemoglobin migrated to a more cathodal position than the normal chain 5 from DBA/2 mice and that the other α-globin, chain 1, was not affected. On focusing gels the phenotype of the mutant allele, Hbay  9, was expressed without dominance to normal chain 5, and Hbay  9  /Hbay  9 homozygotes were fully viable in the laboratory. The molecular basis for the germinal mutation was investigated by analyzing the amino acid sequence of chain 5y9, the mutant form of α-chain 5. A single amino acid substitution (His → Leu) at position 89 was found in chain 5y9. We propose that ethylnitrosourea induced an A → T transversion in the histidine codon at position 89 (CAC → CTC). This mutation has apparently not been observed previously in humans, mice or other mammals, and its novel occurrence may be indicative of other unusual mutational events that do not ordinarily occur in the absence of specific mutagen exposure.

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