0000000000824925

AUTHOR

Dominika Wokołorczyk

showing 4 related works from this author

Genetic predisposition to male breast cancer in Poland

2021

Abstract Background Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear. In Poland, 20 founder mutations in BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL are responsible for the majority of hereditary breast cancer cases in women, but the utility this genes panel has not been tested in men. Methods We estimated the prevalence of 20 alleles in six genes (BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL) in 165 Polish male breast cancer patients. We compared the frequency of selected variants in male breast cancer cases and controls. Results One of the…

OncologyAdultMaleCancer Researchmedicine.medical_specialtyendocrine system diseasesPALB2medicine.disease_causeBreast Neoplasms MaleBreast cancerSurgical oncologyInternal medicineNBNGeneticsmedicineGenetic predispositionBiomarkers TumorHumansGenetic Predisposition to DiseaseAlleleskin and connective tissue diseasesCHEK2RC254-282CHEK2AgedRetrospective StudiesAged 80 and overMutationbusiness.industryCarcinoma Ductal BreastNeoplasms. Tumors. Oncology. Including cancer and carcinogensMiddle Agedmedicine.diseasePrognosisBRCA1BRCA2Male breast cancerRECQLCarcinoma LobularOncologyMale breast cancerCase-Control StudiesPALB2MutationPolandbusinessFollow-Up StudiesResearch ArticleBMC Cancer
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Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?

2021

Simple Summary Current cancer testing gene panels tend to be comprehensive. One of the genes commonly included in the testing panels is BARD1. To establish whether BARD1 mutations predispose to prostate cancer, we sequenced BARD1 in 390 hereditary prostate cancer cases, genotyped 5715 men with unselected prostate cancer and 10,252 controls for three recurrent rare BARD1 variants in Poland. We did not see an elevated prostate risk cancer given p.Q564X truncating mutation, p.R658C missense mutation and p.R659= synonymous variant. Neither variant influenced prostate cancer characteristics or survival. Our study is the first to evaluate the association between BARD1 mutations and prostate cance…

OncologyCancer Researchmedicine.medical_specialtySusceptibility genemedicine.disease_causesurvivalArticleProstate cancerBreast cancerBARD1; mutation; prostate cancer; risk; survivalInternal medicineBARD1medicineBARD1GeneRC254-282riskProstate cancer riskMutationbusiness.industryCancerNeoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseaseprostate cancerOncology<i>BARD1</i>mutationbusinessCancers
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Inherited variants in XRCC2 and the risk of breast cancer

2019

Background XRCC2 participates in homologous recombination and in DNA repair. XRCC2 has been reported to be a breast cancer susceptibility gene and is now included in several breast cancer susceptibility gene panels. Methods We sequenced XRCC2 in 617 Polish women with familial breast cancer and found a founder mutation. We then genotyped 12,617 women with breast cancer and 4599 controls for the XRCC2 founder mutation. Results We identified a recurrent truncating mutation of XRCC2 (c.96delT, p.Phe32fs) in 3 of 617 patients with familial breast cancer who were sequenced. The c.96delT mutation was then detected in 29 of 12,617 unselected breast cancer cases (0.23%) compared to 11 of 4599 cancer…

0301 basic medicineOncologyAdultCancer Researchmedicine.medical_specialtyGenotypeXRCC2DNA repairEpidemiologyBreast NeoplasmsXRCC203 medical and health sciences0302 clinical medicineBreast cancerBreast cancerMutation RateInternal medicinemedicineHumansGenetic TestingAlleleMutation frequencyskin and connective tissue diseasesGeneAllelesGenetic Association StudiesAgedbusiness.industryMiddle Agedmedicine.diseaseDNA-Binding Proteins030104 developmental biologyHereditaryOncology030220 oncology & carcinogenesisMutation (genetic algorithm)MutationFemalePolandbusinessHomologous recombinationBreast Cancer Research and Treatment
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Additional file 1 of Genetic predisposition to male breast cancer in Poland

2021

Additional file 1.

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