Hereditary cancer syndromes: a modern paradigm

Баранова, Е. Е.; Bodunova, N. A.; Воронцова, М. А.; Захарова, Г. С.; Makarova, Maria V; Rumyantsev, P O; Hat'kov, Igor E

doi:10.14341/probl12366

Cited by 4 publications

(2 citation statements)

References 51 publications

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“…All cancers are caused by genetic material changes, but only a small proportion (5–10%) is due to inherited mutations. 1 Therefore, the identification of individuals carrying pathogenic variants in hereditary cancer susceptibility genes allows: early screening and risk reduction protocol implementation. 2…”

Section: Introductionmentioning

confidence: 99%

“…All cancers are caused by genetic material changes, but only a small proportion (5-10%) is due to inherited mutations. 1 Therefore, the identification of individuals carrying pathogenic variants in hereditary cancer susceptibility genes allows: early screening and risk reduction protocol implementation. 2 Molecular diagnostic tests for hereditary cancer have traditionally been restricted to the analysis of one or a few genes, selected from the syndrome identified in the family.…”

Section: Introductionmentioning

confidence: 99%

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Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Oliveira,

Correa,

Acosta

et al. 2023

Glob Med Genet

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Introduction Cancer is a multifactorial disease dependent on the influence of genetic and environmental factors. About 10% of cancers are associated with germline mutations, which predispose to a higher risk of developing cancer. Currently, the use of panels that identify susceptibility and/or association genes cancer has been increasingly used, both in clinical practice and in scientific research. Objective To investigate genetic mutations in patients with a profile for hereditary cancer in individuals from a region of northeast Brazil, where there is a high frequency of endogenous and consanguineous marriages. Methods A set of 17 genes (BRCA1, BRCA2, APC, TP53, PTEN, RET, VHL, RB1, CDKN2, CDH1, CHEK2, MLH1, MSH2, MSH6, MUTYH, XPA, and XPC) associated with cancer and hereditary syndromes were analyzed. Fifteen patients with a hereditary cancer profile were evaluated. Results The pathogenic variant found was c.1187G > A (p.Gly396Asp), rs36053993 in the MUTYH gene in a male patient diagnosed with melanoma at the age of 43 years and a family history for this tumor. This gene encodes an important enzyme related to DNA repair and has been associated with other types of cancer, this is the first report of an association with melanoma, the biological plausibility of this association is given once the MUTYH protein is expressed in the skin tissue and is responsible for repairing damage caused, for example, by sun exposure. Conclusion The results of this study suggest that this mutation may be important for the hereditary predisposition to melanoma, but a broader investigation of this mutation is needed.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Oliveira,

Correa,

Acosta

et al. 2023

Glob Med Genet

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Social and psychological aspects of medical and genetic counseling of patients with hereditary tumor syndromes and their relatives

Byahova,

Makarova,

Nemcova

2024

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Medical and management approaches to the examination of hereditary cancer syndrome patients and their relatives

Byakhova,

Parts,

Semenova

et al. 2023

Zdravoohran. Ross. Fed.

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Introduction. Genetic testing has become the part of the practice of providing specialized cancer care. This allows not only detecting the further tactics for patient management, but also identifying a risk group for the occurrence of malignant neoplasms (MNP). However, there are still no algorithms for dispensary monitoring of healthy carriers of mutations, which determined the relevance of our study. The purpose of the study was to propose an organizational model for the work of the office of hereditary tumor pathology (HTP) based on the analysis of our own experience in identifying patients with hereditary oncological syndromes and their relatives as potent carriers of mutations associated with an increased risk of occurring MNP. Materials and methods. Genetic testing was carried out in two thousand two hundred seventy six patients (residents of Moscow) with breast, gastrointestinal tract, and ovarian cancer. Results. 714 patients out of 2276 MNP patients had mutations associated with an increased risk of developing cancer. Further, 277 relatives of these patients were invited, and mutations were detected in 143 (51.7%). Based on these data, an management model of the HTP office was proposed as part of the Outpatient Oncology Center (OOC), and the need for specialists to work in the HTP office per 100 thousand people was determined — 0.06 oncologist’s rate, 0.03 doctor’s rate-genetics and 0.03 psychologist rates. Limitations. This study did not include patients who did not meet the selection criteria, as well as persons under 18 years of age or who isn’t resident of Moscow. Conclusion. The introduction of genetic testing of patients’ relatives into practice will allow forming risk groups for subsequent dispensary observation, early detection of tumor and precancerous pathology.

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Hereditary cancer syndromes: a modern paradigm

Cited by 4 publications

References 51 publications

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

Social and psychological aspects of medical and genetic counseling of patients with hereditary tumor syndromes and their relatives

Medical and management approaches to the examination of hereditary cancer syndrome patients and their relatives

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