0000000001138181

AUTHOR

Jan Lubiński

showing 4 related works from this author

Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the int…

2022

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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch r…

2022

Abstract Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This com…

koloskopiaEuropean Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)Epidemiology3122 Cancersehkäisycolorectal cancerPenetrancesegregaatioläpäisevyyssuolistosyövätGUIDELINESover-diagnosisSDG 3 - Good Health and Well-beingpreventionTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]1112 Oncology and CarcinogenesisOncology & CarcinogenesispenetranceLynchin oireyhtymäEpidemiologiaSegregation analysisOver-diagnosiGenetics (clinical)segregation analysisScience & TechnologyIncidencePreventionColonoscòpiaGERMLINE MUTATIONSColonoscopyprospectiveCARRIERSColorectal cancer3142 Public health care science environmental and occupational healthProspectiveLynch syndromeOncologyLynch SyndromeOver-diagnosisincidence/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCLINICAL MANAGEMENTilmaantuvuusLife Sciences & Biomedicine
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Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.

2021

Abstract Background There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-gra…

Recurrent mutationsBorderline ovarian tumorRAD51COncologyPALB2Low-grade ovarian cancerBRCA1BRCA2CHEK2Genetics (clinical)Hereditary cancer in clinical practice
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Additional file 1 of Genetic predisposition to male breast cancer in Poland

2021

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