Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers

Janavičius, Ramūnas; Elsakov, Pavel

doi:10.1186/1897-4287-10-1

Cited by 9 publications

(10 citation statements)

References 26 publications

(45 reference statements)

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“…Our results suggest that the number of cases with anxiety may be underestimated with the single use of HADS. Moreover, it has been reported that anxiety is present before and after the genetic study [ 22 , 23 ]. Thus, it is indispensable to evaluate systematically and in detail the psychosocial variables during the CGC process.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation of psychosocial aspects in participants of cancer genetic counseling

González-Ramírez

Arriaga

Camacho-Cárdenas

et al. 2017

Hered Cancer Clin Pract

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BackgroundThe instrument called “Hospital Anxiety and Depression Scale” (HADS) is frequently used to evaluate anxious and depressive symptomatology in patients who receive Cancer Genetic Counseling (CGC). However, this instrument cannot identify all of the psychosocial factors, such as the antecedents of the patients’ emotional states or their concerns. The objective of the present research was to compare cases detected with psychosocial alterations by means of HADS and a Psychological Health Interview (PHI).MethodsA transversal analytical design was used. One hundred ten participants were included (97.3% females and 2.7% males). The average age was 45 years ±10 years.ResultsThe PHI identified twice the amount of participants with psychosocial alterations than did HADS, which only detected 43% of these participants.ConclusionsThe results of our study suggest that the PHI should be applied in addition to HADS to identify participants who would require psychological support due to recurrent concerns.

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Section: Discussionmentioning

confidence: 99%

“…Thus, it is indispensable to evaluate systematically and in detail the psychosocial variables during the CGC process. Hirschberg and collaborators [ 22 ], suggest the evaluation of psychosocial variables during the genetic counseling process in order to refer patients for psychosocial interventions.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of psychosocial aspects in participants of cancer genetic counseling

González-Ramírez

Arriaga

Camacho-Cárdenas

et al. 2017

Hered Cancer Clin Pract

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“…21,22 Current CRC screening recommendations for LS patients include colonoscopy every 1-2 years beginning at age 20-25 years. 26,27 A recently reported case study suggests optimal colonoscopy interval lies closer to 1 year in individuals with germline MSH2 mutations, 28 confirming that personalizing surveillance programs can decrease disease morbidity.…”

Section: Discussionmentioning

confidence: 86%

“…Current CRC screening recommendations for LS patients include colonoscopy every 1–2 years beginning at age 20–25 years 26,27. A recently reported case study suggests optimal colonoscopy interval lies closer to 1 year in individuals with germline MSH2 mutations,28 confirming that personalizing surveillance programs can decrease disease morbidity. In the current study, our results suggests that by genotyping MLH1 mutation carriers to identify individuals harboring three risk alleles for SNPs rs3802842 and rs16892766 the probability of developing CRC would decrease as a result of undergoing annual colonoscopy from the age of 20 (or earlier if anyone in the family has been diagnosed with CRC before the age of 25).…”

Section: Discussionmentioning

confidence: 99%

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

Talseth‐Palmer

Wijnen

Brenne

et al. 2012

Intl Journal of Cancer

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Two colorectal cancer (CRC) susceptibility loci have been found to be significantly associated with an increased risk of CRC in Dutch Lynch syndrome (LS) patients. Recently, in a combined study of Australian and Polish LS patients, only MLH1 mutation carriers were found to be at increased risk of disease. A combined analysis of the three data-sets was performed to better define this association. This cohort-study includes three sample populations combined totaling 1,352 individuals from 424 families with a molecular diagnosis of LS. Seven SNPs, from six different CRC susceptibility loci, were genotyped by both research groups and the data analyzed collectively. We identified associations at two of the six CRC susceptibility loci in MLH1 mutation carriers from the combined LS cohort: 11q23.1 (rs3802842, HR 5 2.68, p 0.0001) increasing risk of CRC, and rs3802842 in a pair-wise combination with 8q23.3 (rs16892766) affecting age of diagnosis of CRC (log-rank test; p 0.0001). A significant difference in the age of diagnosis of CRC of 28 years was observed in individuals carrying three risk alleles compared to those with 0 risk alleles for the pair-wise SNP combination. A trend (due to significance threshold of p 0.0010) was observed in MLH1 mutation carriers towards an increased risk of CRC for the pair-wise combination (p 5 0.002). This study confirms the role of modifier loci in LS. We consider that LS patients with MLH1 mutations would greatly benefit from additional genotyping of SNPs rs3802842 and rs16892766 for personalized risk assessment and a tailored surveillance program.

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“…Moreover, MSH2 mutations carriers were found to have a cumulative risk of colorectal cancer, independent of gender, based on research of 121 families with LS [9]. More than half of the LS cases were attributed to MSH2 mutations [10,11].…”

Section: Introductionmentioning

confidence: 99%

Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women

Peng

Eggert

et al. 2019

IJMS

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This study suggests that two newly discovered variants in the MSH2 gene, which codes for a DNA mismatch repair (MMR) protein, can be associated with a high risk of breast cancer. While variants in the MSH2 gene are known to be linked with an elevated cancer risk, the MSH2 gene is not a part of the standard kit for testing patients for elevated breast cancer risk. Here we used the results of genetic testing of women diagnosed with breast cancer, but who did not have variants in BRCA1 and BRCA2 genes. Instead, the test identified four variants with unknown significance (VUS) in the MSH2 gene. Here, we carried in silico analysis to develop a classifier that can distinguish pathogenic from benign mutations in MSH2 genes taken from ClinVar. The classifier was then used to classify VUS in MSH2 genes, and two of them, p.Ala272Val and p.Met592Val, were predicted to be pathogenic mutations. These two mutations were found in women with breast cancer who did not have mutations in BRCA1 and BRCA2 genes, and thus they are suggested to be considered as new bio-markers for the early detection of elevated breast cancer risk. However, before this is done, an in vitro validation of mutation pathogenicity is needed and, moreover, the presence of these mutations should be demonstrated in a higher number of patients or in families with breast cancer history.

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Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers

Cited by 9 publications

References 26 publications

Evaluation of psychosocial aspects in participants of cancer genetic counseling

Evaluation of psychosocial aspects in participants of cancer genetic counseling

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women

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