The identification of Lynch syndrome in Congolese colorectal cancer patients

Poaty, Henriette; Gandzion, C Aba; Soubeyran, Isabelle; Gassaye, Déby; Peko, J. F.; Bon, Jean Bernard Nkoua; Mbalawa, C. Gombé

doi:10.1016/j.bulcan.2017.08.005

Cited by 5 publications

(6 citation statements)

References 27 publications

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“…The proband is a 51 year-old-Congolese male, recruited at the Gastroenterology and Cancerology Services of the Brazzaville Teaching Hospital, Congo in the frame of a research study hereditary on CRC in Brazzaville. 6 10 …”

Section: Patient and Methodsmentioning

confidence: 99%

“… 1 3 5 The Amsterdam criteria and Bethesda guidelines are useful clinical tools, for the identification of individuals and families at high risk of LS. 6 7 …”

Section: Introductionmentioning

confidence: 99%

“…1,3,5 The Amsterdam criteria and Bethesda guidelines are useful clinical tools, for the identification of individuals and families at high risk of LS. 6,7 Deleterious variants in PMS2 may be monoallelic (heterozygous) in LS or biallelic (homozygous) in constitutional MMR deficiency syndrome. 8,9 In comparison with others MMR genes (MLH1, MSH2, MSH6), there is less data reported on PMS2 mutations thus far.…”

Section: Introductionmentioning

confidence: 99%

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PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

et al. 2023

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Background Lynch syndrome (LS) is an autosomal dominant condition due to the germline mutation in the mismatch repair (MMR) genes including MLH1, MSH2, MSH6, and PMS2 (post-meiotic segregation increased 2). The MMR mutation carriers have high risk for cancers. Pathogenic PMS2 variants are rarely reported in LS-associated colorectal cancer (CRC) with colorectal polyps. The aim of the study was to investigate the genetic etiology of CRC in an individual with CRC with multiple colorectal polyps and a family history of cancers. Patients and Methods The index patient was an African male affected by CRC with multiple colorectal polyps. The clinical diagnostic for LS was based on the Amsterdam II criteria and pedigree. Next-generation sequencing with inherited cancer genes panel was used to detect the pathogenic variant. Results The patient fulfilled the Amsterdam II criteria and the pedigree revealed a family history of recurrent CRC. A deleterious PMS2 germline heterozygous mutation c.2192_2196delTAACT was detected. Conclusion Our study supports the notion that LS may be associated with polyps and shows the predisposition of PMS2 heterozygous mutation in LS-associated CRC at young age.

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Section: Patient and Methodsmentioning

confidence: 99%

“… 1 3 5 The Amsterdam criteria and Bethesda guidelines are useful clinical tools, for the identification of individuals and families at high risk of LS. 6 7 …”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

et al. 2023

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“…The transversal study conducted in IRSSA (Brazzaville) was performed by IHC method [17] after histological analysis. The study requires the Medical Congo ethics commission approval number 048/MRSIT/IRSSA/CERSSA.…”

Section: Methodsmentioning

confidence: 99%

“…Visualization and photos were realized on Leica optic microscope, using software Leica LAS EZ. α-T staining (in brown), was specified as followed: strong expression (+++; >50% of cells), moderate expression (++; 25% to 50% of cells), weakly expression (+; <25% of cells) and (−) no labelling [17].…”

Section: Immunohistochemestry the Methods Was Performed With Novolink Polymermentioning

confidence: 99%

Immunoscreening of Alpha-Tocopherol in Breast, Prostate Cancers and in Gestational Choriocarcinoma Tissues

Poaty¹,

Kinsangou²,

Liboko³

et al. 2021

CellBio

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Background: Many literature reviews report vitamin E supplementation as a benefit chemopreventive and adjuvant therapy in breast and prostate cancers. We investigated in the present work, alpha-tocopherol (α-T) expression (the current active form of vitamin E) from tissues of Congolese patients neither smokers nor alcohol drinkers and without intake antioxidant vitamins supplement. Methods: α-T was analysed in one normal placenta of nine weeks of gestation and in nineteen cancerous tissues, including seven breast cancers, six prostate cancers, and six gestational choriocarcinomas. The study was performed by immunohistochemistry method after diagnosis confirmation by histological analysis. Results: α-T staining in membrane cells and collagen fibers presented a moderate expression in healthy sections of tissues (positive control), but the labelling was strong in breast, prostate adenocarcinomas, and in choriocarcinomas. Conclusion: Tumors immunohistochemistry of α-tocopherol in breast, prostate cancers and in choriocarcinoma show elevated immunostaining suggesting a probable oncogenic effect of the micronutrient.

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Comparaison du « deficit mismatch repair » des cancers colorectaux entre des cohortes africaines et européennes

Bienfait¹,

Doukouré

Verset³

et al. 2020

Annales de Pathologie

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The identification of Lynch syndrome in Congolese colorectal cancer patients

Cited by 5 publications

References 27 publications

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colorectal Cancer with Polyps

Immunoscreening of Alpha-Tocopherol in Breast, Prostate Cancers and in Gestational Choriocarcinoma Tissues

Comparaison du « deficit mismatch repair » des cancers colorectaux entre des cohortes africaines et européennes

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