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Article: Nuclear expression of Ku70/80 is associated with CHEK2 germline mutations in breast cancer.

Jakub, Rosik / Filip, Machaj / Daniel, Bodnar / Jolanta, Hybiak / Tomasz, Huzarski / Cezary, Cybulski / Jan, Lubiński / Wenancjusz, Domagała / Domagała, Paweł

Polish journal of pathology : official journal of the Polish Society of Pathologists

2023 Volume 74, Issue 2, Page(s) 75–81

Abstract: Ku70/80 protein inhibitors reduce the repair of DNA double-strand breaks via the Ku70/80 pathway, so they can be used to treat cancers with Ku70/80 overexpression. Since the association of Ku70/80 with germline CHEK2 mutations in breast cancer is unknown, ...

Abstract	Ku70/80 protein inhibitors reduce the repair of DNA double-strand breaks via the Ku70/80 pathway, so they can be used to treat cancers with Ku70/80 overexpression. Since the association of Ku70/80 with germline CHEK2 mutations in breast cancer is unknown, in this study we evaluated the expression of Ku70/80 in breast cancers with germline CHEK2 mutations. Immunohistochemistry with a Ku70/80 antibody on tissue microarrays from 225 CHEK2-associated breast cancers was used and automatically assessed with computerized image analysis. We report that the vast majority of breast cancers expressed high level of nuclear Ku70/80 and a small percentage of tumors (3.5%) were negative for Ku70/80 expression. There was a significant difference between the nuclear Ku70/80 expression in CHEK2-associated vs. CHEK2-non-associated breast cancers in all tumors (p = 0.009), and in the estrogen receptor (ER) positive subgroup of breast cancers (p = 0.03). This study is the first reporting an association of Ku70/80 expression with CHEK2 germline mutations in breast cancer. The results suggest that evaluation of Ku70/80 expression in breast cancer may improve the selection of breast cancer patients for Ku70/80 inhibitor therapy, and point to CHEK2-associated breast cancer and a subset of ER-positive breast cancer as potential suitable targets for such therapy.
MeSH term(s)	Female ; Humans ; Breast Neoplasms/genetics ; Checkpoint Kinase 2/genetics ; Germ-Line Mutation ; Image Processing, Computer-Assisted
Chemical Substances	Checkpoint Kinase 2 (EC 2.7.1.11) ; CHEK2 protein, human (EC 2.7.11.1) ; XRCC5 protein, human (EC 3.6.4.12) ; Xrcc6 protein, human (EC 3.6.4.12)
Language	English
Publishing date	2023-09-20
Publishing country	Poland
Document type	Journal Article
ZDB-ID	1283064-1
ISSN	1233-9687 ; 0031-3114
ISSN	1233-9687 ; 0031-3114
DOI	10.5114/pjp.2023.129518
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Article ; Online: Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles

Kevin Elias / Urszula Smyczynska / Konrad Stawiski / Zuzanna Nowicka / James Webber / Jakub Kaplan / Charles Landen / Jan Lubinski / Asima Mukhopadhyay / Dona Chakraborty / Denise C. Connolly / Heather Symecko / Susan M. Domchek / Judy E. Garber / Panagiotis Konstantinopoulos / Wojciech Fendler / Dipanjan Chowdhury

Nature Communications, Vol 14, Iss 1, Pp 1-

2023 Volume 9

Abstract: Abstract Identifying germline BRCA1/2 mutation carriers is vital for reducing their risk of breast and ovarian cancer. To derive a serum miRNA-based diagnostic test we used samples from 653 healthy women from six international cohorts, including 350 (53 ... ...

Abstract	Abstract Identifying germline BRCA1/2 mutation carriers is vital for reducing their risk of breast and ovarian cancer. To derive a serum miRNA-based diagnostic test we used samples from 653 healthy women from six international cohorts, including 350 (53.6%) with BRCA1/2 mutations and 303 (46.4%) BRCA1/2 wild-type. All individuals were cancer-free before and at least 12 months after sampling. RNA-sequencing followed by differential expression analysis identified 19 miRNAs significantly associated with BRCA mutations, 10 of which were ultimately used for classification: hsa-miR-20b-5p, hsa-miR-19b-3p, hsa-let-7b-5p, hsa-miR-320b, hsa-miR-139-3p, hsa-miR-30d-5p, hsa-miR-17-5p, hsa-miR-182-5p, hsa-miR-421, hsa-miR-375-3p. The final logistic regression model achieved area under the receiver operating characteristic curve 0.89 (95% CI: 0.87–0.93), 93.88% sensitivity and 80.72% specificity in an independent validation cohort. Mutated gene, menopausal status or having preemptive oophorectomy did not affect classification performance. Circulating microRNAs may be used to identify BRCA1/2 mutations in patients of high risk of cancer, offering an opportunity to reduce screening costs.
Keywords	Science ; Q
Language	English
Publishing date	2023-06-01T00:00:00Z
Publisher	Nature Portfolio
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Article ; Online: Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer

Beiping Miao / Diamanto Skopelitou / Aayushi Srivastava / Sara Giangiobbe / Dagmara Dymerska / Nagarajan Paramasivam / Abhishek Kumar / Magdalena Kuświk / Wojciech Kluźniak / Katarzyna Paszkowska-Szczur / Matthias Schlesner / Jan Lubinski / Kari Hemminki / Asta Försti / Obul Reddy Bandapalli

International Journal of Molecular Sciences, Vol 23, Iss 1295, p

2022 Volume 1295

Abstract: Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we ... ...

Abstract	Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we performed whole-exome sequencing on six members of a Polish family diagnosed with CRC and identified a novel germline variant in the protein tyrosine kinase 7 (inactive) gene ( PTK7 , ENST00000230419, V354M). Targeted screening of the variant in 1705 familial CRC cases and 1674 healthy elderly individuals identified the variant in an additional familial CRC case. Introduction of this variant in HT-29 cells resulted in increased cell proliferation, migration, and invasion; it also caused down-regulation of CREB, p21 and p53 mRNA and protein levels, and increased AKT phosphorylation. These changes indicated inhibition of apoptosis pathways and activation of AKT signaling. Our study confirmed the oncogenic function of PTK7 and supported its role in genetic predisposition of familial CRC.
Keywords	colorectal cancer ; PTK7 ; germline variant ; AKT signaling pathway ; familial cancers ; familial cancer variant prioritization pipeline ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	572
Language	English
Publishing date	2022-01-01T00:00:00Z
Publisher	MDPI AG
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Article ; Online: Serum selenium levels are associated with age-related cataract

Michał Post / Wojciech Lubiński / Jan Lubiński / Karol Krzystolik / Piotr Baszuk / Magdalena Muszyńska / Wojciech Marciniak

Annals of Agricultural and Environmental Medicine, Vol 25, Iss 3, Pp 443-

2018 Volume 448

Abstract: Objective The aim of the study is to analyse correlations between age-related cataract (ARC), serum selenium levels and glutathione peroxidase gene 1 and 4 (GPX-1 and GPX-4). Material and methods A total sample of 275 participants were enrolled into the ... ...

Abstract	Objective The aim of the study is to analyse correlations between age-related cataract (ARC), serum selenium levels and glutathione peroxidase gene 1 and 4 (GPX-1 and GPX-4). Material and methods A total sample of 275 participants were enrolled into the study: group A, 94 subjects elligible for ARC surgery, and group B, 181 volunteers without ocular symptoms, gender-, age-, and smoking- status and volume-matched at 1:2 with subjects in group A. All participants (n=275) were divided according to the Lens Opacities Classification System III (LOCS III) into: 1) study group (subjects with clinically significant cataract; N≥3 or C≥3 or P≥2), 2) control group (controls with clinically non-significant cataract; N<3 and C<3 and P<2). The single nucleotide polymorphisms of GPX-1 and GPX-4 were assessed using Real Time PCR. Serum selenium levels were assayed using Inductively Coupled Plasma Mass Spectrometry. Results Low selenium levels significantly predicted any age-related cataract (OR 7.969; p<.01), nuclear cataract (OR 12.823; p<.01) and cortical cataract (OR 3.31; p<.01). There was no significant effect of gender, age, SNP GPX-1 and SNP GPX-4 on the prevalence of age-related nuclear, cortical and posterior sub-capsular cataract. Serum selenium levels of 75–85 µg/L were associated with the lowest prevalence of ARC. Conclusions Due to a confirmed association between serum selenium levels and age-related cataract, low serum selenium levels may constitute a potential risk factor of age-related cataract.
Keywords	selenium ; age-related cataract ; single nucleotide polymorphism ; LOCS III ; glutathione peroxidase ; SNP ; Agriculture ; S ; Environmental sciences ; GE1-350
Subject code	500
Language	English
Publishing date	2018-09-01T00:00:00Z
Publisher	Institute of Rural Health
Document type	Article ; Online
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Article ; Online: MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome

Mariann Unhjem Wiik / Mia Negline / Vidar Beisvåg / Matthew Clapham / Elizabeth Holliday / Nuria Dueñas / Joan Brunet / Marta Pineda / Nuria Bonifaci / Stefan Aretz / Hannah Klinkhammer / Isabel Spier / Claudia Perne / Andreas Mayr / Laura Valle / Jan Lubinski / Wenche Sjursen / Rodney J. Scott / Bente A. Talseth-Palmer

Scientific Reports, Vol 13, Iss 1, Pp 1-

2023 Volume 10

Abstract: Abstract Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or the EPCAM gene, leading ...

Abstract	Abstract Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by pathogenic germline variants in DNA mismatch repair (MMR) genes or the EPCAM gene, leading to a less functional DNA MMR system. Individuals diagnosed with LS (LS individuals) have a 10–80% lifetime risk of developing cancer. However, there is considerable variability in the age of cancer onset, which cannot be attributed to the specific MMR gene or variant alone. It is speculated that multiple genetic and environmental factors contribute to this variability, including two single nucleotide polymorphisms (SNPs) in the methylenetetrahydrofolate reductase (MTHFR) gene: C677T (rs1801133) and A1298C (rs1801131). By decreasing MTHFR activity, these SNPs theoretically reduce the silencing of DNA repair genes and increase the availability of nucleotides for DNA synthesis and repair, thereby protecting against early-onset cancer in LS. We investigated the effect of these SNPs on LS disease expression in 2,723 LS individuals from Australia, Poland, Germany, Norway and Spain. The association between age at cancer onset and SNP genotype (risk of cancer) was estimated using Cox regression adjusted for gender, country and affected MMR gene. For A1298C (rs1801131), both the AC and CC genotypes were significantly associated with a reduced risk of developing CRC compared to the AA genotype, but no association was seen for C677T (rs1801133). However, an aggregated effect of protective alleles was seen when combining the alleles from the two SNPs, especially for LS individuals carrying 1 and 2 alleles. For individuals with germline pathogenic variants in MLH1, the CC genotype of A1298C was estimated to reduce the risk of CRC significantly by 39% (HR = 0.61, 95% CI 0.42, 0.89, p = 0.011), while for individuals with pathogenic germline MSH2 variants, the AC genotype (compared to AA) was estimated to reduce the risk of CRC by 26% (HR = 0.66, 95% CI 0.53, 0.83, p = 0.01). ...
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2023-11-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
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Article ; Online: Survival of bladder or renal cancer in patients with CHEK2 mutations.

Elżbieta Złowocka-Perłowska / Tadeusz Dębniak / Marcin Słojewski / Thierry van de Wetering / Aleksandra Tołoczko-Grabarek / Cezary Cybulski / Rodney J Scott / Jan Lubiński

PLoS ONE, Vol 16, Iss 9, p e

2021 Volume 0257132

Abstract: Purpose The purpose of this study was to compare the clinical characteristics and the survival of CHEK2 mutation positive and CHEK2 mutation negative patients diagnosed with bladder or kidney cancer. Materials and methods 1016 patients with bladder and ... ...

Abstract	Purpose The purpose of this study was to compare the clinical characteristics and the survival of CHEK2 mutation positive and CHEK2 mutation negative patients diagnosed with bladder or kidney cancer. Materials and methods 1016 patients with bladder and 402 cases with kidney cancer and 8302 controls were genotyped for four CHEK2 variants: 1100delC, del5395, IVS2+1G>A and I157T. Predictors of survival were determined among CHEK2 pathogenic variant carriers using the Cox proportional hazards model. The median follow-up was 17.5 years. Covariates included age (≤60; >61 years), sex (female; male), clinical characteristics (stage: TNM, grade, histopathological type), smoking status (non-smoking; smoking) and cancer family history (negative; positive). Results We found no impact of CHEK2 mutations on bladder or kidney cancer survival. However, we observed a possible increased survival in the subgroup of patients with stage T1 bladder cancer with CHEK2 mutations but this did not meet statistical significance (HR = 0.14; 95% CI 0.02-1.04; p = 0.055). Moreover, we observed that the missense mutations were more frequent in the low grade invasive bladder cancer patient group (OR = 7.9; 95% CI 1.50-42.1; p = 0.04) and in patients with bladder cancer with stage Ta (OR = 2.4; 95% CI 1.30-4.55; p = 0.006). The different results where missense mutations occurs less often we observed among patients with high grade invasive bladder cancer (OR = 0.12; 95% CI 0.02-0.66; p = 0.04) and those with stage T1 disease (OR = 0.2; 95% CI 0.07-0.76; p = 0.01). Our investigations revealed that any mutation in CHEK2 occurs more often among patients with stage Ta bladder cancer (OR = 2.0; 95% CI 1.19-3.47; p = 0.01) and less often in patients with stage T1 disease (OR = 0.31; 95% CI 0.12-0.78; p = 0.01). In the kidney cancer patients, truncating mutations were present more often in the group with clear cell carcinoma GII (OR = 8.0; 95% CI 0.95-67.7; p = 0.05). The 10-year survival for all CHEK2 mutation carriers with bladder cancer was 33% and for non-carriers 11% (p = 0.15). The 10-year survival for CHEK2 mutation carriers with kidney cancer 34% and for non-carriers 20% (p = 0.5). Conclusion CHEK2 mutations were not associated with any change in bladder or kidney cancer survival regardless of their age, sex, smoking status and family history. We observed a potentially protective effect of CHEK2 mutations on survival for patients with stage T1 bladder cancer. CHEK2 missense mutations were more common among patients with low grade invasive bladder cancer and in patients with stage Ta diease. The frequencies of the I157T CHEK2 pathogenic variant were less in patients with high grade invasive bladder cancer and those with stage T1 disease. Among patients with bladder cancer with stage Ta disease, the OR for any mutation in CHEK2 was 2.0 but for those with stage T1 disease, the OR was 0.3. We observed truncating CHEK2 mutations were associated with kidney cancer patients with GII clear cell carcinoma.
Keywords	Medicine ; R ; Science ; Q
Subject code	616 ; 610
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
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Article ; Online: Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population

Alicja Zawiślak / Krzysztof Woźniak / Xabier Agirre / Satish Gupta / Beata Kawala / Anna Znamirowska-Bajowska / Katarzyna Grocholewicz / Jan Lubiński / Felipe Prosper / Anna Jakubowska

International Journal of Environmental Research and Public Health, Vol 18, Iss 11483, p

2021 Volume 11483

Abstract: Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated ... ...

Abstract	Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results. This study aimed to evaluate whether two SNPs in ABCA4 , namely rs4147811 and rs560426, are associated with NSCL/P occurrence in the Polish population. Methods: The study included 627 participants: 209 paediatric patients with NSCL/P and 418 healthy newborn controls. DNA was isolated from the saliva of NSCL/P patients and from umbilical cord blood in the controls. Genotyping of rs4147811 and rs560426 was performed using quantitative PCR. Results: The rs4147811 (AG genotype) SNP in ABCA4 was associated with a decreased risk of NSCL/P (odds ratio (OR) 0.57; 95% confidence interval (CI) 0.39–0.84; p = 0.004), whereas the rs560426 (GG genotype) SNP was associated with an increased risk of NSCL/P (OR 2.13; 95% CI 1.31–3.48; p = 0.002). Limitations: This study—based on the correlation between single genetic variants and the occurrence of different phenotypes—might have limited power in detecting relevant, complex inheritance patterns. ORs are often low to moderate when investigating the association of single genes with the risk of a complex trait. Another limitation was the small number of available NSCL/P samples. Conclusions: The results suggest that genetic variations in ABCA4 are important risk markers of NSCL/P in the Polish population. Further investigation in a larger study group is warranted.
Keywords	congenital condition ; cleft lip ; cleft palate ; genetic variation ; single nucleotide polymorphism ; ABCA4 ; Medicine ; R
Subject code	616 ; 610
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	MDPI AG
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Article ; Online: Blood Copper Levels and the Occurrence of Colorectal Cancer in Poland

Piotr Baszuk / Wojciech Marciniak / Róża Derkacz / Anna Jakubowska / Cezary Cybulski / Jacek Gronwald / Tadeusz Dębniak / Tomasz Huzarski / Katarzyna Białkowska / Sandra Pietrzak / Magdalena Muszyńska / Józef Kładny / Steven A. Narod / Jan Lubiński / Marcin R. Lener

Biomedicines, Vol 9, Iss 1628, p

2021 Volume 1628

Abstract: There is a need for sensitive and specific biomarkers for the early detection of colorectal cancer. In this retrospective study, we assessed whether a high blood copper level was associated with the presence of colorectal cancer. The blood copper level ... ...

Abstract	There is a need for sensitive and specific biomarkers for the early detection of colorectal cancer. In this retrospective study, we assessed whether a high blood copper level was associated with the presence of colorectal cancer. The blood copper level was measured among 187 colorectal cancer patients and 187 matched controls. Cases and controls were matched for sex, smoking status (yes/no) and year of birth. Among the cases, the mean blood copper level was 1031 µg/L (range 657 µg/L to 2043 µg/L) and among the controls, the mean blood copper level was 864 µg/L (range 589 µg/L to 1433 µg/L). The odds ratio for colorectal cancer for those in the highest quartile of copper level (versus the lowest) was 12.7 (95% CI: 4.98–32.3; p < 0.001). Of the patients with stage I–II colon cancer, 62% had a copper level in the highest quartile. A blood copper level in excess of 930 µg/L is associated with an increase in the prevalence of colorectal cancer in the Polish population and its potential use in early detection programs should be considered.
Keywords	copper ; colorectal cancer ; biomarkers ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	MDPI AG
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Article ; Online: Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer

Diamanto Skopelitou / Beiping Miao / Aayushi Srivastava / Abhishek Kumar / Magdalena Kuświk / Dagmara Dymerska / Nagarajan Paramasivam / Matthias Schlesner / Jan Lubinski / Kari Hemminki / Asta Försti / Obul Reddy Bandapalli

International Journal of Molecular Sciences, Vol 22, Iss 4, p

2021 Volume 1837

Abstract: Germline mutations in predisposition genes account for only 20% of all familial colorectal cancers (CRC) and the remaining genetic burden may be due to rare high- to moderate-penetrance germline variants that are not explored. With the aim of identifying ...

Abstract	Germline mutations in predisposition genes account for only 20% of all familial colorectal cancers (CRC) and the remaining genetic burden may be due to rare high- to moderate-penetrance germline variants that are not explored. With the aim of identifying such potential cancer-predisposing variants, we performed whole exome sequencing on three CRC cases and three unaffected members of a Polish family and identified two novel heterozygous variants: a coding variant in APC downregulated 1 gene ( APCDD1 , p.R299H) and a non-coding variant in the 5′ untranslated region (UTR) of histone deacetylase 5 gene ( HDAC5 ). Sanger sequencing confirmed the variants segregating with the disease and Taqman assays revealed 8 additional APCDD1 variants in a cohort of 1705 familial CRC patients and no further HDAC5 variants. Proliferation assays indicated an insignificant proliferative impact for the APCDD1 variant. Luciferase reporter assays using the HDAC5 variant resulted in an enhanced promoter activity. Targeting of transcription factor binding sites of SNAI-2 and TCF4 interrupted by the HDAC5 variant showed a significant impact of TCF4 on promoter activity of mutated HDAC5 . Our findings contribute not only to the identification of unrecognized genetic causes of familial CRC but also underline the importance of 5’UTR variants affecting transcriptional regulation and the pathogenesis of complex disorders.
Keywords	APCDD1 ; HDAC5 ; 5´UTR ; germline variant ; familial colorectal cancer ; whole exome sequencing ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	572
Language	English
Publishing date	2021-02-01T00:00:00Z
Publisher	MDPI AG
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Article ; Online: Dziedziczne podłoże czerniaka – wyniki badań własnych na tle piśmiennictwa

Tadeusz Dębniak / Romuald Maleszka / Jan Lubiński

Przegląd Dermatologiczny, Vol 98, Iss 3, Pp 234-

2011 Volume 238

Abstract: Malignant melanoma (MM) represents one of the most aggressive neoplasmsand its frequency is rapidly increasing. Familial aggregations ofthis malignancy are present in around 3-15% of all cases. CDKN2A isthe major “high-risk” MM susceptibility gene. ... ...

Abstract	Malignant melanoma (MM) represents one of the most aggressive neoplasmsand its frequency is rapidly increasing. Familial aggregations ofthis malignancy are present in around 3-15% of all cases. CDKN2A isthe major “high-risk” MM susceptibility gene. Recently new selectioncriteria for CDKN2A genetic assessment of patients – the so-called mnemonic“guideline of three” – have been proposed: 1) individuals withthree or more primary melanomas, 2) three or more melanomas amongfirst or second degree relatives, 3) presence of three or more cases ofmelanoma and/or pancreatic cancer on the same side of the family. Inthe Polish population a common CDKN2A variant (A148T) significannowotlyincreases melanoma risk regardless of the cancer family history.A recent multi-centre genome-wide association study identified threeloci strongly associated with melanoma risk: 16q24, 11q14-q21, 9p21.The list of mutations/polymorphisms which are believed to be associatedwith moderate MM risk includes: Lys751Gln_CC/Gly156Gly_CC ofthe XPD gene; R151C, V60L, R160C, R163Q of the MC1R gene; N991Dof the BRCA2 gene and haplotype rs731236_A + rs1544410_T of theVDR gene. Appropriate management may reduce morbidity and mortality.Genetic testing and clinical evaluation should be performed, andfamily history should be obtained in all patients affected with MM, includingthose with apparently sporadic tumours.
Keywords	malignant melanoma ; CDKN2A ; Medicine ; R ; Dermatology ; RL1-803
Subject code	610
Language	English
Publishing date	2011-07-01T00:00:00Z
Publisher	Termedia Publishing House
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