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4. Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

Author

Cybulski, Cezary, Zamani, Neda, Kluźniak, Wojciech, Milano, Larissa, Wokołorczyk, Dominika, Stempa, Klaudia, Rudnicka, Helena, Zhang, Shiyu, Zadeh, Maryam, Huzarski, Tomasz, Jakubowska, Anna, Dębniak, Tadeusz, Lener, Marcin, Szwiec, Marek, Domagała, Paweł, Samani, Amir Abbas, Narod, Steven, Gronwald, Jacek, Masson, Jean-Yves, Lubiński, Jan, and Akbari, Mohammad R.

Published
2023
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5. PALB2 mutations and prostate cancer risk and survival

Author

Wokołorczyk, Dominika, Kluźniak, Wojciech, Stempa, Klaudia, Rusak, Bogna, Huzarski, Tomasz, Gronwald, Jacek, Gliniewicz, Katarzyna, Kashyap, Aniruddh, Morawska, Sylwia, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Domagała, Paweł, Lubiński, Jan, Narod, Steven A., Akbari, Mohammad R., and Cybulski, Cezary

Published
2021
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6. Epithelioid inflammatory myofibroblastic sarcoma with exceptionally long response to lorlatinib—a case report.

Author

Becht, Rafał, Kiełbowski, Kajetan, Żychowska, Justyna, Poncyljusz, Wojciech, Łanocha, Aleksandra, Kozak, Katarzyna, Gabrysz-Trybek, Ewa, and Domagała, Paweł

Abstract

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare and aggressive subtype of inflammatory myofibroblastic tumor. The disease is associated with rearrangements of the anaplastic lymphoma kinase (ALK). In this paper, we present the clinicopathological features and treatment of a female patient diagnosed with EIMS. In 2019, an 18-year-old female patient was admitted to the hospital with abdominal pain. Radiological examinations confirmed a large pelvic mass which was subsequently resected. After re-evaluation of the initial histologic diagnosis, the final diagnosis of EIMS was established. Consequently, due to the lack of response to chemotherapy and deteriorating clinical condition, she began the therapy with ALK inhibitors. In total, the patient was treated with crizotinib, alectinib, and lorlatinib. As a result, after over 4 years since the initial diagnosis, she is still alive with significantly improved clinical condition and quality of life. This paper demonstrates the clinical benefits of sequential therapy of ALK inhibitors and an exceptionally long response to lorlatinib, a third-generation tyrosine kinase inhibitor. [ABSTRACT FROM AUTHOR]

Published
2024
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7. First reports of parental care in species of the genus Dismegistus (Hemiptera: Heteroptera: Parastrachiidae).

Author

LIS, JERZY A. and DOMAGAŁA, PAWEŁ J.

Subjects
*EGGS, *HEMIPTERA, *SPECIES, *INSECTS, *LARVAE, *FEMALES
Abstract

Parental care is reported in several insect orders. Usually, it involves protecting eggs, burying them, moving a batch of eggs from place to place and feeding the larvae. Insect parental care is well developed in Heteroptera and is particularly widespread in the superfamily Pentatomoidea. The species best known for their maternal care belong to the subfamily Sehirinae (Cydnidae) and the genus Parastrachia (Parastrachiidae). There are no published data on parental care in species of the genus Dismegistus (the second genus within the family Parastrachiidae). This paper provides the first reports of females of species of Dismegistus carrying and guarding egg batches in the same way as species in the genus Parastrachia and certain Sehirinae. [ABSTRACT FROM AUTHOR]

Published
2024
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8. New Molecular Phylogenetic Evidence Confirms Independent Origin of Coxal Combs in the Families of the 'Cydnoid' Complex (Hemiptera: Heteroptera: Pentatomoidea).

Author

Lis, Jerzy A., Domagała, Paweł J., and Lis, Barbara

Subjects
*DNA sequencing, *RIBOSOMAL DNA, *HEMIPTERA, *NUCLEAR DNA, *SOIL particles
Abstract

Simple Summary: Four families (Cydnidae, Parastrachiidae, Thaumastellidae, and Thyreocoridae) in the superfamily Pentatomoidea are morphologically defined by a similar body outline and the presence of a series of stout setae on the distal margin of the coxae. These structures, called coxal combs, are thought to protect the coxal–trochanteral articulation from damage caused by soil and sand particles and have not been observed in other true bugs (Hemiptera: Heteroptera). Therefore, they have been consistently considered a synapomorphy for these four families. However, their independent origin in these families has been suggested by nuclear ribosomal DNA sequence analysis (28S rDNA and 18S rDNA). This study investigated whether the analysis of mitochondrial 16S ribosomal DNA sequences would confirm these results. In addition, we examined whether any group of species possessing the coxal combs could be considered a well-supported independent monophylum. Coxal combs, found only in members of the 'cydnoid' complex (comprising four families: Cydnidae, Parastrachiidae, Thaumastellidae, and Thyreocoridae) within the superfamily Pentatomoidea, have long been regarded as a character confirming their close evolutionary relationship. However, many studies have demonstrated that these four families are phylogenetically distant. Others have been treated as subfamilies of the broadly defined Cydnidae, with the coxal combs as the only character linking them. This is the first study on the origin of coxal combs in species of all families and subfamilies that represent the broadly conceived Cydnidae (69 species in 39 genera). Moreover, this study presents the first 16S rDNA gene sequences providing a basis for such analyses. The analyses included DNA sequences of 62 species in 34 genera of Cydnidae sensu stricto, three species in two genera of Thyreocoridae, two species in two genera of Parastrachiidae, and two species in one genus of Thaumastellidae. The sequence analysis in the family Cydnidae covered 35 species representing 19 genera of the subfamily Cydninae, 16 species in eight genera of the subfamily Sehirinae, five species in two genera of Amnestinae, three species in three genera of Garsauriinae, two species in one genus of Cephalocteinae, and one species of Amaurocorinae. The results of our study demonstrate the independent origin of coxal combs in taxa of the 'cydnoid' complex within the superfamily Pentatomoidea. They confirm the polyphyly not only of the entire 'cydnoid' complex but also of the family Cydnidae itself. [ABSTRACT FROM AUTHOR]

Published
2024
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9. KRAS mutation testing in colorectal cancer as an example of the pathologist's role in personalized targeted therapy: a practical approach

Author

Domagala, Pawel, Hybiak, Jolanta, Sulzyc-Bielicka, Violetta, Cybulski, Cezary, Rys, Janusz, and Domagala, Wenancjusz

Subjects
Quantitative Biology - Genomics
Abstract

Identifying targets for personalized targeted therapy is the pathologist's domain and a treasure. For decades, pathologists have had to learn, understand, adopt and implement many new laboratory techniques as they arrived on the scene. Pathologists successfully integrate the results of those tests into final pathology reports that were, and still are, the basis of clinical therapeutic decisions. The molecular methods are different but no more difficult to comprehend in the era of "kit procedures". Pathologists have the knowledge and expertise to identify particular gene mutations using the appropriate molecular tests currently available. This review focuses on the most important recent developments in KRAS mutation testing in metastatic colorectal cancer (CRC), and shows that a pathologist is involved in 10 stages of this procedure. Recent studies have shown that highly sensitive, simple, reliable and rapid assays may significantly improve the identification of CRC patients resistant to anti-EGFR therapy. Thus, direct sequencing does not seem to be an optimal procedure of KRAS testing for clinical purposes. Twelve currently available high-sensitivity diagnostic assays (with the CE-IVD mark) for KRAS mutation testing are briefly described and compared. The suggested pathology report content for somatic mutation tests is described. In conclusion, evidence is presented that sending away paraffin blocks with tumor tissue for KRAS mutation testing may not be in the best interest of patients. Instead, an evidence-based approach indicates that KRAS mutation testing should be performed in pathology departments, only with the use of CE-IVD/FDA-approved KRAS tests, and with the obligatory, periodic participation in the KRAS EQA scheme organized by the European Society of Pathology as an independent international body., Comment: 20 pages, 2 figures, 2 tables, 140 references

Published
2013
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10. Colorectal cancers differ in respect of PARP-1 protein expression

Author

Sulzyc-Bielicka, Violetta, Domagala, Pawel, Hybiak, Jolanta, Majewicz-Broda, Anna, Safranow, Krzysztof, and Domagala, Wenancjusz

Subjects
Quantitative Biology - Subcellular Processes, Quantitative Biology - Tissues and Organs
Abstract

Recent findings raise the possibility of PARP inhibitor therapy in colorectal cancers(CRCs). However, the extent of PARP-1 protein expression in clinical specimens of CRC is not known. Using immunohistochemistry we assessed PARP-1 protein expression in tissue microarrays of 151 CRCs and its association with the patient's age, sex, Astler-Coller stage, grade and site of the tumor. High PARP nuclear immunoreactivity was found in 68.2% (103/151) of all cases. In turn, 31.8% (48/151)of tumors showed low PARP expression, including 9 (6%) PARP-1 negative CRCs. There was a significant association of PARP-1 expression with the site of CRC and Astler-Coller stage. A high PARP expression was noted in 79.1% of colon vs. 53.9% of rectal tumors (p = 0.001). The mean PARP-1 score was 1.27 times higher in colon vs. rectal cancers (p = 0.009) and it was higher in stage B2 vs. stage C of CRCs (p = 0.018). In conclusion, the level of PARP-1 protein nuclear expression is associated with the tumor site and heterogeneous across clinical specimens of CRC, with the majority of CRCs expressing a high level but minority - low or no PARP-1 expression. These findings may have a clinical significance because the assessment of PARP-1 expression in tumor samples may improve selection of patients with CRC for PARP inhibitor therapy.

Published
2012

13. Colorectal Adenocarcinomas Harboring ALK Fusion Genes: A Clinicopathologic and Molecular Genetic Study of 12 Cases and Review of the Literature

Author

Lasota, Jerzy, Chłopek, Małgorzata, Wasąg, Bartosz, Kowalik, Artur, Christiansen, Jason, Lamoureux, Jennifer, Kuźniacka, Alina, Felisiak-Gołąbek, Anna, Liu, Yalan, Reyes, Tiffany Ashley R., Saha, Rishabh, Agaimy, Abbas, Behenska, Kristyna, Biernat, Wojciech, Cattaneo, Laura, Centonze, Giovanni, Daum, Ondrej, Daumova, Magdalena, Domagała, Paweł, Dziuba, Ireneusz, Geppert, Carol E., Góźdź, Stanisław, Nasierowska-Guttmejer, Anna, Hałoń, Agnieszka, Hartmann, Arndt, Inaguma, Shingo, Iżycka-Świeszewska, Ewa, Kaczorowski, Maciej, Kołos, Małgorzata, Kopczyński, Janusz, Michal, Michal, Milione, Massimo, Okoń, Krzysztof, Pęksa, Rafał, Pyzlak, Michał, Ryś, Janusz, Waloszczyk, Piotr, Wejman, Jaroslaw, and Miettinen, Markku

Published
2020
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15. Inconsistencies in the Classification of the Family Cydnidae (Hemiptera: Heteroptera: Pentatomoidea) Revealed by Molecular Apomorphies in the Secondary and Tertiary Structures of 18S rRNA Length-Variable Region L (LVR L).

Author

Lis, Jerzy A. and Domagała, Paweł J.

Subjects
*TERTIARY structure, *HEMIPTERA, *HYPERVARIABLE regions, *RIBOSOMAL RNA, *FAMILIES, *CLASSIFICATION
Abstract

The SSU nuclear rDNA (encoding 18S ribosomal RNA) is one of the most frequently sequenced genes in the molecular analysis of insects. Molecular apomorphies in the secondary and tertiary structures of several 18S rRNA length-variable regions (LVRs) located within the V2, V4, and V7 hypervariable regions can be good indicators for recovering monophyletic groups within some heteropteran families. Among the LVRs that have been analysed, the LVR L in the V4 hypervariable region is the longest and most crucial for such assessments. We analysed the 18S rRNA V4 hypervariable region sequences of 45 species from the family Cydnidae, including all 6 subfamilies (Amaurocorinae, Amnestinae, Cephalocteinae, Cydninae, Garsauriinae, and Sehirinae) and three pentatomoid families (Parastrachiidae, Thaumastellidae, and Thyreocoridae), which have often been included in the broadly defined Cydnidae family. This is the first time that representatives of all Cydnidae subfamilies have been included in a molecular analysis. Only taxa from two subfamilies, Sehirinae and Cydninae, have been used in previous molecular studies. The secondary and tertiary structures of the LVR L were predicted for each species using the two-step procedure already accepted for such analyses to recover any molecular apomorphy essential for determining monophyly. The results of our comparative studies contradict the current understanding of the relationships among burrowing bugs and the current family classification. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Nowe stanowisko Oxycarenus lavaterae (Fabricius, 1787) (Heteroptera: Lygaeoidea: Oxycarenidae) na Górnym Śląsku / New record of Oxycarenus lavaterae (Fabricius, 1787) (Heteroptera: Lygaeoidea: Oxycarenidae) in Upper Silesia

Author

Domagała, Paweł J.

Subjects
Hemiptera, true bugs, distribution, faunistics, Upper Silesia, new record, Poland, invasive species
Abstract

This note presents a new record of the invasive species Oxycarenus lavaterae in Upper Silesia, Poland.

Published
2022
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19. Formability of Perforated Sheet Metal

Author

Australasian Congress on Applied Mechanics (1st : 1996 : Melbourne, Vic.), Muzykiewicz, Waclaw, Swiatkowski, Kazimierz, and Domagala, Pawel

Published
1996

21. NUCLEAR EXPRESSION OF KU70/80 IS ASSOCIATED WITH CHEK2 GERMLINE MUTATIONS IN BREAST CANCER.

Author

ROSIK, JAKUB, MACHAJ, FILIP, BODNAR, DANIEL, HYBIAK, JOLANTA, HUZARSKI, TOMASZ, CYBULSKI, CEZARY, LUBIŃSKI, JAN, DOMAGAŁA, WENANCJUSZ, and DOMAGAŁA, PAWEŁ

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. [ABSTRACT FROM AUTHOR]

Published
2023
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22. The risk of gastric cancer in carriers of CHEK2 mutations

Author

Teodorczyk, Urszula, Cybulski, Cezary, Wokołorczyk, Dominika, Jakubowska, Anna, Starzyńska, Teresa, Ławniczak, Małgorzata, Domagała, Paweł, Ferenc, Katarzyna, Marlicz, Krzysztof, Banaszkiewicz, Zbigniew, Wiśniowski, Rafał, Narod, Steven A., and Lubiński, Jan

Published
2013
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23. Drugie stanowisko prześwietlika platanowego Corythucha ciliata (Say, 1832) (Hemiptera: Heteroptera: Tingidae) na Górnym Śląsku

Author

Lis, Barbara and Domagała, Paweł J.

Subjects
sycamore lace bug, true bugs, Platanus spp, Upper Silesia, Poland, non-native species, invasive species
Abstract

The sycamore lace bug Corythucha ciliata (Say, 1832) has a North American origin and is one of the most abundant and widespread pests on plane trees (Platanus spp.) across the globe. It has been introduced to Europe, South America, Asia, Australia, and Africa during the last sixty years. In Poland, it has been recorded since 2009 in 28 localities distributed in four of its southern zoogeographical regions. The present paper describes the second record of this species in Upper Silesia.

Published
2022
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24. The presence of prostate cancer at biopsy is predicted by a number of genetic variants

Author

Kashyap, Aniruddh, Kluźniak, Wojciech, Wokołorczyk, Dominika, Gołąb, Adam, Sikorski, Andrzej, Słojewski, Marcin, Gliniewicz, Bartłomiej, Świtała, Jerzy, Borkowski, Tomasz, Borkowski, Andrzej, Antczak, Andrzej, Wojnar, Łukasz, Przybyła, Jacek, Sosnowski, Marek, Małkiewicz, Bartosz, Zdrojowy, Romuald, Sikorska-Radek, Paulina, Matych, Józef, Wilkosz, Jacek, Różański, Waldemar, Kiś, Jacek, Bar, Krzysztof, Bryniarski, Piotr, Paradysz, Andrzej, Jersak, Konrad, Niemirowicz, Jerzy, Słupski, Piotr, Jarzemski, Piotr, Skrzypczyk, Michał, Dobruch, Jakub, Domagała, Paweł, Piotrowski, Krzysztof, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Dębniak, Tadeusz, Górski, Bohdan, Masojć, Bartłomiej, van de Wetering, Thierry, Menkiszak, Janusz, Akbari, Mohammad R., Lubiński, Jan, Narod, Steven A., and Cybulski, Cezary

Published
2014
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25. Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

Author

Lubiński, Jan, Korzeń, Marcin, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Jakubowska, Anna, Jaworska, Katarzyna, Wokołorczyk, Dominika, Mędrek, Krzysztof, Matyjasik, Joanna, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Masojć, Bartłomiej, Lener, Marcin, Szymańska, Anna, Szymańska-Pasternak, Jolanta, Serrano-Fernàndez, Pablo, Piegat, Andrzej, Uciński, Rafał, Domagała, Paweł, Domagała, Wenancjusz, Chosia, Maria, Kładny, Józef, Górecka, Barbara, Narod, Steven, and Scott, Rodney

Published
2009
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30. The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland

Author

Kluźniak, Wojciech, Wokołorczyk, Dominika, Kashyap, Aniruddh, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Dębniak, Tadeusz, Gołąb, Adam, Gliniewicz, Bartłomiej, Sikorski, Andrzej, Świtała, Jerzy, Borkowski, Tomasz, Borkowski, Andrzej, Antczak, Andrzej, Wojnar, Łukasz, Przybyła, Jacek, Sosnowski, Marek, Małkiewicz, Bartosz, Zdrojowy, Romuald, Sikorska-Radek, Paulina, Matych, Józef, Wilkosz, Jacek, Różański, Waldemar, Kiś, Jacek, Bar, Krzysztof, Bryniarski, Piotr, Paradysz, Andrzej, Jersak, Konrad, Niemirowicz, Jerzy, Słupski, Piotr, Jarzemski, Piotr, Skrzypczyk, Michał, Dobruch, Jakub, Domagała, Paweł, Akbari, Mohammad R., Lubiński, Jan, Narod, Steven A., and Cybulski, Cezary

Published
2013
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35. Terrestrial invertebrate fauna of Polish caves – a summary of 100 years of research

Author

Kocot-Zalewska, Joanna and Domagała, Paweł

Subjects
caves, subterranean fauna, terrestrial, invertebrate, Poland, checklist
Abstract

The year 2018 is particularly important in the history of zoological research in Poland. A hundred years ago, Kazimierz Demel published the first work concerning the terrestrial cave fauna of caves in the Ojców area. In this paper we present the extent of research on the terrestrial invertebrate fauna of Polish caves in the last 100 years. All accessible research papers that have been published during this period were analysed. Based on published literature, 593 species of terrestrial invertebrate were recorded in Polish caves. Additionally, detailed list of species of individual taxonomic groups was provided.

Published
2020

36. A catalogue of the Castniidae (Lepidoptera) in the California Academy of Sciences, with general and historical comments

Author

González, Jorge M. and Domagała, Paweł J.

Subjects
Lepidoptera, Neotropics, California Academy of Sciences, Lepidoptera, Giant Butterfly moths, Castniidae, California Academy of Sciences, Biodiversity, Neotropics, Castniidae, Giant Butterfly moths, Biodiversity
Abstract

A catalogue of the Castniidae (Lepidoptera) in the California Academy of Sciences, with general and historical comments. The material representing 168 specimens with 46 species and subspecies belonging to the Castniidae (Lepidoptera) deposited in the California Academy of Sciences was studied. A brief comment on the history of Academy is provided, as well as general comments on natural history, distribution and other details for each mentioned species and subspecies., {"references": ["Aguilar L., Miller J.Y., Sarto V. 2001. A new lepidopteran family for the European fauna. SHILAP Revista de Lepidopterolog\u00eda 29(113): 86\u201387.", "Albertoni F.F., Moraes S.S., Steiner J., Zillikens A. 2012. Description of the pupa and redescription on the imagines of Geyeria decussata and their association with bromeliads in Southern Brazil (Lepidoptera: Castniidae). Entomologia generalis 34(1\u20132): 61\u201374.", "Angulo A.O. 1998. El huevo de Castnia psittacus Molina (Lepidoptera: Castniidae). Gayana Zoolog\u00eda 62(2): 211\u2013213.", "Angulo A.O., Olivares T.S. 2009. The real larva of Castnia eudesmia (Lepidoptera: Castniidae). Tropical Lepidoptera Research 19(1): 56\u201357", "Anonymous 1913. Obituary. L.E. Ricksecker. Entomological News and Proceedings of the Entomological Section, Academy of Natural Sciences, Philadelphia 24(3): 144.", "Anonymous 1993. Herman G. Real. News of the Lepidopterists' Society 35(2): 62.", "Apolinar M. 1945. Miscel\u00e1nea entomol\u00f3gica. I-Algo sobre castnidos colombianos. Revista de la Academia Colombiana de Ciencias Experimentales, F\u00edsicas & Naturales 6: 322.", "Arnaud, Jr. P.H. 1970. Lists of the Scientific Publications and Insect Taxa Described by Francis Xavier Williams (1882-1967). Occasional Papers of the California Academy of Sciences 80: 1\u201333.", "Arnaud, Jr. P.H. 1979. A catalog of the types of Diptera in the collection of the California Academy of Sciences. Myia 5: 1\u2013505.", "Arnaud, Jr. P.H. 1993. Obituary. Thomas William Davies. Journal of the Lepidopterists' Society 47(3): 255\u2013259.", "Arnaud Jr. P.H. 1996. Alexandre Constantinovich Chn\u00e9our (Schneeur) (1884-1977). Journal of the Lepidopterists' Society 50(1): 92\u201395.", "Arnaud jr. P.H., Davies T.W. 1976. Obituary. Robert Grand Wind (1912-1975). Journal of the Lepidopterists' Society 30(3): 239\u2013244.", "B\u00e9n\u00e9luz F., Gallard J.Y. 2012. Les Castniidae de Guyane Fran\u00e7aise (Lepidoptera: Castniidae), pp. 14\u201338, In: Lacomme D., Manil L. (Eds.). L\u00e9pidopt\u00e9res de Guyane - Tome 6 : Castniidae, Erebidae (Letis), Saturniidae (Eacles). L\u00e9pidopt\u00e9ristes de France.", "Blaisdell F.E., Benzinger R., von Geldern O. 1918. In Memoriam: Carl Fuchs. Proceedings of the California Academy of Sciences, 4th series 8(2): 27\u201334.", "Clarke G.M., O'Dwyer C. 1999. Genetic variability and population structure of the endangered golden sun moth, Synemon plana. Biological Conservation 92(2000): 371\u2013381.", "Cock M.J.W., Gonz\u00e1lez J.M. 2012. Corybantes mathani (Oberth\u00fcr) (Lepidoptera: Castniidae) an addition to the insect fauna of Trinidad, West Indies, and a probable oviposition on Moriche, Mauritia flexuosa (Arecaceae). Living World 2012: 67\u201369.", "Common I.F.B. 1970. Lepidoptera, pp. 765\u2013866, In: CSIRO, Division of Entomology (Ed.). The insects of Australia. Melbourne, Australia: Melbourne University Press.", "Common I.F.B. 1974. Lepidoptera. pp. 98\u2013107, In: CSIRO, Division of Entomology (Ed.). The insects of Australia, Supplement. Melbourne, Australia: Melbourne University Pres", "Common I.F.B., Edwards E.D. 1981. The life history and early stages of Synemon magnifica Strand (Lepidoptera: Castniidae). Journal of the Australian Entomological Society 20: 295\u2013302.", "Constantino L.M. 1998. Butterfly life history studies, diversity, ranching and conservation in the Choc\u00f3 rainforests of Western Colombia (Insecta: Lepidoptera). SHILAP Revista de Lepidopterolog\u00eda 26(101): 19\u201339.", "Cort\u00e9s R. 1968. Obituario. Dr. Edwyn P. Reed. Revista Chilena de Entomolog\u00eda 6: 152.", "Des Vignes W. 1987. Literature review on control of giant moth-borer, Castnia licus (Lepidoptera: Castniidae) on sugarcane. Journal of the Agricultural Society of Trinidad and Tobago 87: 63\u201367.", "Domaga\u0142a P.J., Gonz\u00e1lez J.M., Ziaja D.J. 2017a: The Castniidae in the collection of the Natural History Museum of the Institute of Systematics and Evolution of Animals of the Polish Academy of Sciences in Krakow. Acta Entomologica Silesiana 25(004): 35\u201343.", "Domaga\u0142a P.J., Gonz\u00e1lez J.M., Ziaja D.J., Dobosz R. 2017b. Castniidae (Lepidoptera) in the collection of the Museum and Institute of Zoology Polish Academy of Sciences in Warsaw. Annals of the Upper Silesian Museum in Bytom, Entomology 26(004): 21\u201331. DOI: http://doi.org/10.5281/zenodo.102563.", "Douglas F. 2003. Flora and Fauna Guarantee Act 1988 Action Statement No. 146, Five threatened Victorian Sun-moths (Synemon species). Department of Sustainability and Environment, Melbourne, Victoria: 11 pp.", "Douglas F. 2008. The Sun-moths (Lepidoptera: Castniidae) of Victoria, with a Detailed Study of the Pale Sun-moth (Synemon selene Klug, 1850). Ph.D. Thesis. Victoria, Australia: University of Ballarat: 646 pp.", "Edwards E.D. 1993. Synemon plana site, Belconnen Naval Station, Lawson, pp. 150-152, In: Sharp S., Rehwinkel R. (Eds.). Management Of Relict Lowland Grasslands. Proceedings of a workshop and public seminar, 1993. Conservation Series 8. ACT Parks and Conservation Service, Canberra.", "Edwards E.D. 1996. Castnioidea, pp. 47\u2013351, In: Nielsen E. S., Edwards E.D., Rangsi T.V. (Eds.). Checklist of the Lepidoptera of Australia 4. CSIRO, Australia.", "Edwards E.D., Gentili P., Horak M., Kristensen N.P., Nielsen E.S. 1999. The Cossoid/Sesioid Assemblage, pp. 181\u2013197, In: Kristensen N.P. (Ed.). Lepidoptera: Moths and Butterflies. I. Evolution, Systematics, and Biogeography. Handbook of Zoology, Vol. IV, Part 35. De Gruyter, Berlin, and New York.", "Essig E.O. 1931. A History of Entomology. McMillan Company, New York. 1029 pp.", "Essig E.O. 1953. Edwin Cooper Van Dyke. Pan-Pacific Entomologist 29:72\u201397.", "Etcheverry M. 1993. Los naturalistas de la familia Reed en Chile: Edwyn Charles (1841-1910), Edwyn Pastor (1880-1966) y Carlos Samuel (1888-1949). Bolet\u00edn de la Sociedad Biol\u00f3gica de Concepci\u00f3n, Chile 64: 85-95.", "Fall H.C. 1913. Obituary. L.E. Ricksecker. Entomological News and Proceedings of the Entomological Section, Academy of Natural Sciences, Philadelphia 24(5): 239\u2013240.", "Fukuda H. 2000. A new species of the genus Tascina Westwood (Castniidae) from Vietnam. Transactions of the Lepidopterists' Society of Japan 52(1): 45\u201348.", "Gajardo Tobar R. 1966a. Dr Edwyn P. Reed. Sesi\u00f3n del 14 de octubre. Bolet\u00edn informativo de la Sociedad Cient\u00edfica de Valparaiso 5(47): 2-4.", "Gajardo Tobar R. 1966b. Edwyn P. Reed. Revista M\u00e9dica de Valparaiso 19(4): 123\u2013126.", "Gonz\u00e1lez J.M. 1998. Castniinae (Lepidoptera: Castniidae) de Venezuela. IV: El g\u00e9nero Haemonides. Bolet\u00edn del Centro de Investigaciones Biol\u00f3gicas, Maracaibo 32(3): 195\u2013201.", "Gonz\u00e1lez J.M. 2008. Castnidos (Lepid\u00f3pteros), pp. 1\u20134, 169\u2013170, In: Ocegueda S., Llorente-Bousquets J. (Eds.). Cat\u00e1logo taxon\u00f3mico de especies de M\u00e9xico, en Capital natural de M\u00e9xico, Vol. 1: Conocimiento actual de la biodiversidad. CONABIO. M\u00e9xico, CD 1.", "Gonz\u00e1lez J.M., Boone J.H., Brilmyer G.M., Le D. 2010. The Giant Butterfly-moths of the Field Museum of Natural History, Chicago, with notes on the Herman Strecker collection (Lepidoptera: Castniidae). SHILAP Revista de Lepidopterolog\u00eda 38(152): 385\u2013409.", "Gonz\u00e1lez J.M., Cock M.J.W. 2004. A synopsis of the Castniidae (Lepidoptera) of Trinidad and Tobago. Zootaxa 762: 1\u20139.", "Gonz\u00e1lez J.M., Domaga\u0142a P., Czaderna R., Wanat M. 2013d. The giant Butterfly-moths of the Natural History Museum of Wroclaw University, Poland, with comments about Friedrich Wilhelm Niepelt and his insect collection (Lepidoptera: Castniidae). Genus 24(3\u20134): 275\u2013290.", "Gonz\u00e1lez J.M., Domaga\u0142a P., Larysz A. 2013a. The Giant Butterfly-Moths (Lepidoptera: Castniidae) of the Upper Silesian Museum (Muzeum G\u00f3rno\u015bl\u0105skie) in Bytom, Poland, with notes on the history of the Museum. Biodiversity Journal 4(1): 219\u2013228.", "Gonz\u00e1lez J.M., Fern\u00e1ndez Y\u00e9pez F. 1993. Lista preliminar de las especies de Castniinae (Lepidoptera: Castniidae) del Parque Nacional \"Henri Pittier\", Venezuela. Diagnosis y comentarios. Memorias de la Sociedad de Ciencias Naturales La Salle 53(139): 47\u201353.", "Gonz\u00e1lez J.M., Gonzalo Andrade-C.M., Worthy B., Hern\u00e1ndez-Baz F. 2017. Giant butterfly moths of the Instituto de Ciencias Naturales, Universidad Nacional de Colombia, Bogot\u00e1, Colombia (Lepidoptera: Castniidae). SHILAP Revista de Lepidopterolog\u00eda 45(179): 447\u2013456.", "Gonz\u00e1lez J.M., Hern\u00e1ndez-Baz F. 2012. Polillas y taladradores gigantes de la Familia Castniidae (Lepidoptera) de Guatemala, pp. 145\u2013153, In: Cano E. B., Schuster J. C. (Eds.). Biodiversidad de Guatemala, Vol. 2. Universidad del valle de Guatemala.", "Gonz\u00e1lez J.M., Hern\u00e1ndez-Baz F., Vinciguerra R. 2008. Notes on some Athis inca ssp. collected in Mexico (Lepidoptera: Castniidae). SHILAP Revista de Lepidopterolog\u00eda 36(144): 473\u2013476.", "Gonz\u00e1lez J.M., R\u00edos S.D., Smith P. 2013b. Confirmation of the presence of Geyeria uruguayana (Burmeister, 1880) in Paraguay, with notes (Lepidoptera: Castniidae). SHILAP Revista de Lepidopterolog\u00eda 41(161): 105\u2013111.", "Gonz\u00e1lez J.M., Salazar J.A. 2003. Adici\u00f3n a la lista de Castnidos (Lepidoptera: Castniidae: Castniinae) conocidos de Colombia. Bolet\u00edn Cient\u00edfico del Museo de Historia Natural, Manizales 7: 47\u201356.", "Gonz\u00e1lez J.M., St\u00fcnning D. 2007. The Castniinae at the Zoologisches Forschungsmuseum Alexander Koenig, Bonn (Lepidoptera: Castniidae). Entomologische Zeitschrift 117(2): 89\u201393.", "Gonz\u00e1lez J.M., Vinciguerra R., R\u00edos S.D. 2013c. Amauta hodeei (Oberth\u00fcr, 1881) and its subspecies (Lepidoptera: Castniidae), with comments on the life and times of Brother Apolinar Maria. Biodiversity Journal 4(2): 275\u2013280.", "Gonz\u00e1lez J.M., Worthy B. 2017. First records of Synpalamides phalaris (Fabricius, 1793) (Lepidoptera: Castniidae) in Venezuela, with comments on its natural history. CheckList 12(4): 177\u2013183.", "Goodspeed T.H. 1941. Plant Hunters in the Andes. New York, Farrar & Rinehart, Inc. 429 pp.", "Gunder J.D. 1929. North American Institutions Featuring Lepidoptera. III. The Academy of Sciences, San Francisco, Calif. Entomological News 40(4): 101\u2013105.", "Hagen K.S., Franz J.M. 1973. A History of Biological Control, pp. 433\u2013476, In: Smith R. F., Mill er T. E., Smith C. N. (Eds.). History of Entomology. California: Annual Reviews Inc./Entomological Society of America.", "Hern\u00e1ndez-Baz F., Serna F., Vergara Navarro E.V., Lamas G., Gonz\u00e1lez J.M. 2012. New records of giant butterfly-moths (Lepidoptera: Castniidae) from Colombia with general notes on natural history. Revista Colombiana de Entomolog\u00eda 38(1): 162\u2013163.", "Hopffer C.H. 1856. Neue oder weniger behannte Schmetterlinge der Insekten, Sammlung des honigl zoologischen Musei der Universit\u00e4t zu Berlin. A.W. Schade, Berlin, 8 pp.", "Houlbert C. 1917. Diagnoses de castnies nouvelles et rectification de quelques noms ind\u00fbment employ\u00e9s. Etudes de L\u00e9pidopt\u00e9rologie Compar\u00e9e 13: 49\u201387.", "Houlbert C. 1918. R\u00e9vision monographique de la sous-famille des Castniinae. \u00c9tudes de L\u00e9pidopt\u00e9rologie Compar\u00e9e 15: 1\u2013730.", "Isidoro N., Riolo P., Verdolini E., Peri E., Beaudoin-Ollivier L. 2017. Paysandisia archon: Taxonomy, Distribution, Biology and Life Cycle, pp. 131\u2013149, In: Soroker V., Colazza S. (Eds.). Handbook of Major Palm Pests: Biology and Management. Wiley-Blackwell, UK.", "Lamas G. 1973. Taxonom\u00eda e evoluc\u00e3o dos generos Ituna Doubleday (Danainae) e Paititia, gen.n., Thyridia H\u00fcbner e Methona Doubl eday (Ithominae). Ph.D. Thesis. Universidade de S\u00e3o Paulo, Brazil, 225 pp.", "Lamas G. 1993. Bibliograf\u00eda de los Castniidae (Lepidoptera) americanos. Revista peruana de Entomolog\u00eda 35: 13\u201323.", "Lamas G. 1995a. A critical review of J.Y. Miller's checklist of the Neotropical Castniidae (Lepidoptera). Revista Peruana de Entomolog\u00eda 37: 73\u201387.", "Lamas G. 1995b. Tipos de Castniidae en el Naturhistorisches Museum, de Viena (Insecta: Lepidoptera). SHILAP Revista de Lepidopterolog\u00eda, 23(91): 247\u2013249.", "Lamas G. 2004. Adiciones a la Bibliograf\u00eda de los Castniidae (Lepidoptera) Americanos. Revista Peruana de Entomolog\u00eda 44: 43\u201346.", "Lamas G. 2014. Bibliography of Butterflies. An Annotated Bibliography of the Neotropical Butterflies and Skippers (Lepidoptera: Papilionoidea and Hesperioidea). Revised Electronic edition, 694 pp.", "Lathy P.I. 1922. An account of the Castniinae in the collection of Madame Gaston Fournier (Lepidoptera). Annals and Magazine of Natural History (9)12(49): 68\u201386.", "Leviton A.E., Aldrich M.L. 1997. Theodore Henry Hittell's The California Academy of Sciences, A narrative History: 1853-1906. San Francisco: California Academy of Sciences, 623 pp.", "L\u00f3pez G.B., Porion T. 2012. Notes sur le genre Athis H\u00fcbner [1919] et description d'une nouvelle esp\u00e8ce de Mexique (Lepidoptera, Castniidae). Les cahiers du Mus\u00e9e Confluences, \u00c9tudes scientifiques 3: 75\u201381.", "Mallis A. 1971. American Entomologists. New Brunswick: Rutgers University Press, 549 pp.", "Miller J.Y. 1972. Review of the Central American Castnia inca complex (Castniidae). Bulletin of the Allyn Museum 6: 1\u201313.", "Miller J.Y. 1976. Studies in the Castniidae. II. Descriptions of three new species of Castnia, s.l. Bulletin of the Allyn Museum 34: 1\u201313.", "Miller J.Y. 1986. The Taxonomy, Phylogeny, and Zoogeography of the Neotropical Castniinae (Lepidoptera: Castnioidea: Castniidae). Ph.D. Thesis. Gainesville, USA: University of Florida, 571 pp.", "Miller J.Y. 1995. Castniidae, pp. 133\u2013137, 176\u2013177, In: Heppner J.B. (Ed.). Atlas of Neotropical Lepidoptera. Checklist: Part 2. Hyblaeoidea \u2013 Pyraloidea \u2013 Tortricoidea 3. Association for Tropical Lepidoptera / Scientific Publishers, Gainesville.", "Miller J.Y. 2000. Castniidae (Lepidoptera), pp. 527\u2013531, In: Llorente J.E., Gonz\u00e1lez E., Papayero N. (Eds.) Biodiversidad, taxonom\u00eda y Biogeograf\u00eda de artr\u00f3podos de M\u00e9xico: hacia una s\u00edntesis de su conocimiento vol. 2. CONABIO. M\u00e9xico.", "Miller J.Y. 2007. Studies in the Castniidae. IV. Description of a new genus, Insigniocastnia. Bulletin of the Allyn Museum 145: 1\u20137.", "Miller J.Y. 2008. Studies in the Castniidae. V. Description of a new species of Zegara. Bulletin of the Allyn Museum 160: 1\u201313.", "Miller J.Y., Matthews D.L., Warren A.D., Alma Solis M., Harvey D.J., Gentili-Poole P., Lehman R., Emmel T.C., Covell C. jr. 2012. An annotated list of the Lepidoptera of Honduras. Insecta Mundi 0205: 1\u201372.", "Miller J.Y., Sourakov A. 2009. Some observations on Amauta cacica procera (Boisduval) (Castniidae: Castniinae) in Costa Rica. Tropical Lepidoptera Research 19(2): 113\u2013114.", "Molina, J.I. 1782. Saggio sulla storia naturalle dell Chili. Bologna: Stamperia di Santo Tommaso d'Aquino, 367 pp.", "Moraes S., Duarte M. 2009. Morfologia externa comparada das tr\u00eas esp\u00e9cies do complexo Telchin licus (Drury) (Lepidoptera, Castniidae) com uma sinon\u00edmia. Revista Brasileira de Entomologia 53(2): 245\u2013265.", "Moraes S., Duarte M. 2014. Phylogeny of Neotropical Castniidae (Lepidoptera: Cossoidea: Castniidae): testing the hypothesis of the mimics as a monophyletic group and implications for the arrangement of the genera. Zoological Journal of the Linnean Society 170: 362\u2013399.", "Moraes S., Duarte M., Gonz\u00e1lez J.M. 2010. Revision of Hista Oiticica (lepid\u00f3ptera: Castniidae) and discussion on the validity of its subspecies. Zootaxa 2421: 1\u201327.", "Moraes S., Duarte M., Miller J.Y. 2011. Revision of the Neotropical genus Yagra Oiticica (Lepidoptera: Castniidae). Journal of Natural History 45(25\u201326): 1511\u20131531.", "Moss A.M. 1945. The Castnia of Par\u00e1 with notes on others (Lep. Castniidae). Proceedings of the Royal Entomological Society of London, (B) 14: 48\u201352.", "O 'Dwyer C., Attiwill P.M. 1999. A comparative study of habitats of the Golden Sun Moth Synemon plana Walker (Lepidoptera: Castniidae): implications for restoration. Biological Conservation 89: 131\u2013141.", "Penco F.C. 2011. Lepidoptera Argentina. Cat\u00e1logo ilustrado y comentado de las mariposas de Argentina. Parte I: Castniidae. Mor\u00f3n: Author, 41 pp.", "Philippi, R.A. 1867. Comentario cr\u00edtico sobre los animales descritos por Molina. Anales de la Universidad de Chile 29: 779.", "Porion T. 2004. Castnius asteropoides n.sp. nouveau casniide n\u00e9otropical (Lepidoptera, Castniidae). L\u00e9pidopt\u00e8res 2(5): 47\u201350.", "Ramos-Elorduy J., Moreno J.M.P., V\u00e1zquez A.I., Landero I., Oliva-Rivera H., Camacho V.H.M. 2011. Edible Lepidoptera in Mexico: Geographic distribution, ethnicity, economic and nutritional importance for rural people. Journal of Ethnobiology and Ethnomedicine 7: 2.", "Ramos-Gonz\u00e1lez M.I., Zamora-Manzur C., Parra L.E. 2018. La \"mariposa papagayo\" de Molina (Insecta: Lepidoptera): refutando la combinaci\u00f3n Castnia psittacus (Molina, 1782). Gayana 82(1): 79\u201384.", "Reed E.P. 1935. La Castnia eudesmia, Gray. Revista Chilena de historia Natural 39: 267\u2013271.", "Reed W. 2013. Edwyn C. Reed y el archivador Rojo. Rodrigo Quezada Reed, Chile, 188 pp.", "Richter A., Weinhold D., Robertson G., Young M., Edwards E.D., Hnatiuk S., Osborne W. 2013. More than an empty case: a non-invasive technique for monitoring the Australian critically endangered golden sun moth, Synemon plana (Lepidoptera: Castniidae). Journal of Insect Conservation 17: 529\u2013536.", "R\u00edos S.D., Gonz\u00e1lez J.M. 2011. A synopsis of the Castniidae (Lepidoptera) of Paraguay. Zootaxa 3055: 43\u201361.", "R\u00edos S.D., Smith P., Penco F.C., Gonz\u00e1lez J.M. 2015. Registros recientes de Ceretes marcelserres (Godart, [1824]) (Lepidoptera: Castniidae). Bolet\u00edn del Museo Nacional de Historia Natural, Paraguay 19(1): 29\u201334.", "Ruiz Pereira F. 1940. Una visita al museo particular del Dr. Edwyn P. Reed. Anales de la Academia Chilena de Ciencias Naturales 5: 269\u2013274.", "Salazar J.A. 1999: Datos de recolecci\u00f3n para 16 castnidos colombianos (Lepidoptera: Castniidae). Bolet\u00edn Cient\u00edfico del Museo de Historia Natural, Universidad de Caldas 3: 43\u201351.", "Salazar J.A., Rodr\u00edguez G., Rodr\u00edguez C. 2013. Datos adicionales sobre castnidos colombianos (Lepidoptera: Castniidae). Bolet\u00edn del Museo Entomol\u00f3gico Francisco Luis Gallego 5(2): 7\u201315.", "Sandoval M.F., Fern\u00e1ndez Badillo A., Gonz\u00e1lez J.M. 2007. Mariposas (Insecta: Lepidoptera) del Parque Henri Pittier, Venezuela: lista, distribuci\u00f3n y algunas notas sobre su historia natural. Revista de la Facultad de Agronom\u00eda, Alcance 70: 1\u2013140.", "Sarto i Monteys V. 2002. The discovery, description, and taxonomy of Paysandisia archon (Burmeister, 1880), a castniid species recently found in southwestern Europe (Castniidae). Nota Lepidopterologica 25(1): 3\u201315.", "Sarto i Monteys V. 2003. Notes on Paysandisia archon. Atropos 20: 61\u201362.", "Sarto i Monteys V., Aguilar L. 2001. Paysandisia archon (Burmeister, 1880), Castniidae, also in France. SHILAP Revista de Lepidopterolog\u00eda 29(115): 280.", "Sarto i Monteys V., Aguilar L. 2005. The Castniid palm borer, Paysandisia archon (Burmeister, 1880) in Europe: comparative biology, pest status and possible control methods (Lepidoptera: Castniidae). Nachrichten des Entomologischen Vereins Apollo, N. F. 26: 61\u201394.", "Sarto i Monteys V., Aguilar L., Saiz-Ardanaz M., Ventura D., Mart\u00ed M. 2005. Comparative morph

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2019
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38. Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer

Author

Kluźniak, Wojciech, primary, Wokołorczyk, Dominika, additional, Rusak, Bogna, additional, Huzarski, Tomasz, additional, Kashyap, Aniruddh, additional, Stempa, Klaudia, additional, Rudnicka, Helena, additional, Jakubowska, Anna, additional, Szwiec, Marek, additional, Morawska, Sylwia, additional, Gliniewicz, Katarzyna, additional, Mordak, Karina, additional, Stawicka, Małgorzata, additional, Jarkiewicz-Tretyn, Joanna, additional, Cechowska, Magdalena, additional, Domagała, Paweł, additional, Dębniak, Tadeusz, additional, Lener, Marcin, additional, Gronwald, Jacek, additional, Lubiński, Jan, additional, Narod, Steven A., additional, Akbari, Mohammad R., additional, and Cybulski, Cezary, additional

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2019
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39. BRCA1 promoter methylation in peripheral blood is associated with the risk of triple‐negative breast cancer

Author

Prajzendanc, Karolina, primary, Domagała, Paweł, additional, Hybiak, Jolanta, additional, Ryś, Janusz, additional, Huzarski, Tomasz, additional, Szwiec, Marek, additional, Tomiczek‐Szwiec, Joanna, additional, Redelbach, Wojciech, additional, Sejda, Aleksandra, additional, Gronwald, Jacek, additional, Kluz, Tomasz, additional, Wiśniowski, Rafał, additional, Cybulski, Cezary, additional, Łukomska, Alicja, additional, Białkowska, Katarzyna, additional, Sukiennicki, Grzegorz, additional, Kulczycka, Katarzyna, additional, Narod, Steven A., additional, Wojdacz, Tomasz K., additional, Lubiński, Jan, additional, and Jakubowska, Anna, additional

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2019
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40. Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.

Author

Wokołorczyk, Dominika, Kluźniak, Wojciech, Huzarski, Tomasz, Gronwald, Jacek, Szymiczek, Agata, Rusak, Bogna, Stempa, Klaudia, Gliniewicz, Katarzyna, Kashyap, Aniruddh, Morawska, Sylwia, Dębniak, Tadeusz, Jakubowska, Anna, Szwiec, Marek, Domagała, Paweł, Lubiński, Jan, Narod, Steven A., Akbari, Mohammad R., and Cybulski, Cezary

Subjects
BRCA genes, GENETIC mutation, GENETIC testing, PROSTATE cancer, GRAND strategy (Political science)
Abstract

In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes in Polish familial PCa cases and to estimate gene‐related PCa risks and probability of aggressive disease, we analyzed the coding regions of 14 genes by exome sequencing in 390 men with familial prostate cancer and 308 cancer‐free controls. We compared the mutation frequencies between PCa cases and controls. We also compared clinical characteristics of prostate cancers between mutation carriers and noncarriers. Of the 390 PCa cases, 76 men (19.5%) carried a mutation in BRCA1, BRCA2, NBN, ATM, CHEK2, HOXB13, MSH2 or MSH6 genes. No mutations were found in BRIP1, PTEN, TP53, MLH1, PMS2 and SPOP. Significant associations with familial PCa risk were observed for CHEK2, NBN, ATM, and HOXB13. High‐grade (Gleason 8‐10) tumors were seen in 56% of BRCA2, NBN or ATM carriers, compared to 21% of patients who tested negative for mutations in these genes (OR = 4.7, 95% CI 2.0‐10.7, P =.0003). In summary, approximately 20% of familial prostate cancer cases in Poland can be attributed to mutations in eight susceptibility genes. Carriers of mutations in BRCA2, NBN and ATM develop aggressive disease and may benefit from intensified screening and/or chemotherapy. What's new? Genetic susceptibility plays an important role in prostate cancer (PCa). In designing genetic‐testing strategies for PCa screening, it is important to define the full spectrum of pathogenic mutations that increase PCa risk. In this study, the authors found that approximately 20% of familial prostate cancer cases in Poland can be attributed to mutations in eight susceptibility genes. In addition, carriers of mutations in BRCA2, NBN and ATM are more likely to develop aggressive disease. These patients may benefit from intensified screening and/or chemotherapy. [ABSTRACT FROM AUTHOR]

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2020
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41. BRCA1 promoter methylation in peripheral blood is associated with the risk of triple‐negative breast cancer.

Author

Prajzendanc, Karolina, Domagała, Paweł, Hybiak, Jolanta, Ryś, Janusz, Huzarski, Tomasz, Szwiec, Marek, Tomiczek‐Szwiec, Joanna, Redelbach, Wojciech, Sejda, Aleksandra, Gronwald, Jacek, Kluz, Tomasz, Wiśniowski, Rafał, Cybulski, Cezary, Łukomska, Alicja, Białkowska, Katarzyna, Sukiennicki, Grzegorz, Kulczycka, Katarzyna, Narod, Steven A., Wojdacz, Tomasz K., and Lubiński, Jan

Subjects
METHYLATION, BRCA genes, DNA methylation, BLOOD cells, BREAST cancer, TRIPLE-negative breast cancer
Abstract

Methylation of the promoter of the BRCA1 gene in DNA derived from peripheral blood cells is a possible risk factor for breast cancer. It is not clear if this association is restricted to certain types of breast cancer or is a general phenomenon. We evaluated BRCA1 methylation status in peripheral blood cells from 942 breast cancer patients and from 500 controls. We also assessed methylation status in 262 paraffin‐embedded breast cancer tissues. Methylation status was assessed using methylation‐sensitive high‐resolution melting and was categorized as positive or negative. BRCA1 methylation in peripheral blood cells was strongly associated with the risk of triple‐negative breast cancer (TNBC) (odds ratio [OR] 4.70; 95% confidence interval [CI]: 3.13–7.07; p < 0.001), but not of estrogen‐receptor positive breast cancer (OR 0.80; 95% CI: 0.46–1.42; p = 0.46). Methylation was also overrepresented among patients with high‐grade cancers (OR 4.53; 95% CI: 2.91–7.05; p < 0.001) and medullary cancers (OR 3.08; 95% CI: 1.38–6.88; p = 0.006). Moreover, we detected a significant concordance of BRCA1 promoter methylation in peripheral blood and paired tumor tissue (p < 0.001). We found that BRCA1 promoter methylation in peripheral blood cells is associated with approximately five times greater risk of TNBC. We propose that BRCA1 methylation in blood‐derived DNA could be a novel biomarker of increased breast cancer susceptibility, in particular for triple‐negative tumors. What's new? BRCA1/2 gene mutations are known risk factors for breast cancer, but how DNA methylation of the BRCA gene promoters, especially in peripheral blood cells, is correlated with breast cancer risk is less clear. Here the authors find that BRCA1 promoter methylation in blood‐derived DNA is associated with ~5‐fold increased risk for triple‐negative breast cancer, underscoring its relevance as a biomarker for this treatment‐resistant form of breast cancer. [ABSTRACT FROM AUTHOR]

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2020
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42. BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population

Author

Dębniak, Tadeusz, primary, Scott, Rodney J., additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, Lener, Marcin R., additional, and Lubiński, Jan, additional

Published
2018
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43. TaqMan protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

Dębniak, Tadeusz, primary, J, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, R., Marcin, additional, and Lubiński, Jan, additional

Published
2018
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44. Sanger sequencing protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

Dębniak, Tadeusz, primary, J, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, and R., Marcin, additional

Published
2018
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45. Sanger sequencing protocol - BRCA1/2 mutations are not a common cause of malignant melanoma in the Polishpopulation v1

Author

J Scott, Rodney, additional, Górski, Bohdan, additional, Masojć, Bartłomiej, additional, Kram, Andrzej, additional, Maleszka, Romuald, additional, Cybulski, Cezary, additional, Paszkowska-Szczur, Katarzyna, additional, Kashyap, Aniruddh, additional, Murawa, Dawid, additional, Malińska, Karolina, additional, Kiedrowicz, Magdalena, additional, Rogoża-Janiszewska, Emilia, additional, Rudnicka, Helena, additional, Deptuła, Jakub, additional, Domagała, Paweł, additional, Kluźniak, Wojciech, additional, R. Lener, Marcin, additional, and Lubiński, Jan, additional

Published
2018
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46. Constitutional variants in POT1, TERF2IP, and ACDgenes in patients with melanoma in the Polish population

Author

Malińska, Karolina, Deptuła, Jakub, Rogoża-Janiszewska, Emilia, Górski, Bohdan, Scott, Rodney, Rudnicka, Helena, Kashyap, Aniruddh, Domagała, Paweł, Hybiak, Jolanta, Masojć, Bartłomiej, Cybulski, Cezary, Kram, Andrzej, Boer, Magdalena, Kiedrowicz, Magdalena, Lubiński, Jan, and Dębniak, Tadeusz

Abstract

Evaluation of the prevalence of POT1, ACD, and TERF2IPmutations among Polish melanoma patients. A cohort of 60 patients from melanoma-prone families, 1500 unselected cases and 1500 controls were genotyped. Methodology included Sanger sequencing, in-silico software predilection, and TaqMan assays. We identified three nonsynonymous variants: POT1c.903 G>T; TERF2IPc.970 A>G; and ACD c.1544 T>C and a splice site variant ACDc.645 G>A. The c.903 G>T was predicted to be pathogenic according to PolyPhen-2, benign according to Mutation Taster, PROVEAN, AGVGD, and SIFT. The c.645 G>A was defined as disease caused by Mutation Taster and Human Splicing Finder and as variant of unknown significance by ClinVar. The other detected variants were described as benign. The c.903 G>T variant was present in two unselected cases and one control [P= 0.57, odds ratio (OR) = 2.00]; the c.645 G>A variant was not detected among the unselected cases and the controls; the c.970 A>G variant was present in 110 cases and 133 controls (P= 0.14, OR = 0.81); the c.1544 T>C variant was present in 687 cases and 642 controls (P= 0.11, OR = 1.07). We found no loss of heterozygosity of the c.903 G>T, c.970 A>G, and c.645 G>A variants. C.645 G>A variant had no effect on splicing or expression. The changes in POT1c.903 G>T and ACDc.645 G>A can be classified as rare variants of unknown significance, the other variants appear to be polymorphisms. Germline mutations in POT1, ACD, and TERF2IPare infrequent among Polish melanoma patients.

Published
2020
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47. The spectrum of mutations predisposing to familial breast cancer in Poland.

Author

Cybulski, Cezary, Kluźniak, Wojciech, Huzarski, Tomasz, Wokołorczyk, Dominika, Kashyap, Aniruddh, Rusak, Bogna, Stempa, Klaudia, Gronwald, Jacek, Szymiczek, Agata, Bagherzadeh, Maryam, Jakubowska, Anna, Dębniak, Tadeusz, Lener, Marcin, Rudnicka, Helena, Szwiec, Marek, Jarkiewicz‐Tretyn, Joanna, Stawicka, Małgorzata, Domagała, Paweł, Narod, Steven A., and Lubiński, Jan

Subjects
HEREDITARY cancer syndromes, BREAST cancer, BRCA genes, CANCER susceptibility, CANCER genes, GENETIC testing
Abstract

To optimize genetic testing, it is necessary to establish the spectrum of breast cancer‐predisposing mutations in particular ethnic groups. We studied 1,018 women with a strong family history for breast cancer (families with hereditary breast cancer; HBC) from genetically homogenous population of Poland, which is populated by ethnic Slavs, for mutations in 14 cancer susceptibility genes. Additionally, we compared the frequency of candidate pathogenic variants in breast cancer cases and controls. Germline mutations were detected in 512 of 1,018 probands with breast cancer (50.3%), including BRCA1/2 mutations detected in 420 families and non‐BRCA mutations seen in 92 families. Thirteen BRCA1/2 founder mutations represented 84% of all BRCA1/2‐positive cases. Seven founder mutations of CHEK2, PALB2, NBN and RECQL represented 73% of all non‐BRCA‐positive cases. Odds ratios for hereditary breast cancer were 87.6 for BRCA1, 15.4 for PALB2, 7.2 for CHEK2, 2.8 for NBN and 15.8 for RECQL. Odds ratios for XRCC2, BLM and BARD1 were below 1.3. In summary, we found that 20 founder mutations in six genes (BRCA1/2, CHEK2, PALB2, NBN and RECQL) are responsible for 82% of Polish hereditary breast cancer families. A simple test for these 20 mutations will facilitate genetic testing for breast cancer susceptibility in Poland. It may also facilitate genetic testing for breast cancer susceptibility in other Slavic populations and women of Slavic descent worldwide. What's new? Poland is a genetically homogeneous population similar to Iceland, currently designing national policies for genetic testing. To define the range of pathogenic mutations, the authors conducted a large analysis of breast cancer susceptibility genes, defining pathogenic mutations in 50.3% families with hereditary breast cancer. They identified 20 distinct founder mutations in six genes that were responsible for more than 80% of all detected mutations; these 20 mutations could be combined in a single genetic test of breast cancer susceptibility in Polish women. [ABSTRACT FROM AUTHOR]

Published
2019
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48. Inherited variants in XRCC2 and the risk of breast cancer.

Author

Kluźniak, Wojciech, Wokołorczyk, Dominika, Rusak, Bogna, Huzarski, Tomasz, Gronwald, Jacek, Stempa, Klaudia, Rudnicka, Helena, Kashyap, Aniruddh, Dębniak, Tadeusz, Jakubowska, Anna, Lener, Marcin, Szwiec, Marek, Tomiczek-Szwiec, Joanna, Jarkiewicz-Tretyn, Joanna, Cechowska, Magdalena, Domagała, Paweł, Szymiczek, Agata, Bagherzadeh, Maryam, Lubiński, Jan, and Narod, Steven A.

Abstract

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-free women (0.24%) (OR = 0.96; 95% CI 0.48–1.93). The mutation frequency in 1988 women with familial breast cancer was 0.2% (OR = 0.84, 95% CI 0.27–2.65). Breast cancers in XRCC2 mutation carriers and non-carriers were similar with respect to age of diagnosis and clinical characteristics. Loss of the wild-type XRCC2 allele was observed only in one of the eight breast cancers from patients who carried the XRCC2 mutation. No cancer type was more common in first- or second-degree relatives of XRCC2 mutation carriers than in relatives of the non-carriers. Conclusion: XRCC2 c.96delT is a protein-truncating founder variant in Poland. There is no evidence that this mutation predisposes to breast cancer (and other cancers). It is premature to consider XRCC2 as a breast cancer-predisposing gene. [ABSTRACT FROM AUTHOR]

Published
2019
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49. A common nonsense mutation of the BLM gene and prostate cancer risk and survival

Author

Antczak, Andrzej, primary, Kluźniak, Wojciech, additional, Wokołorczyk, Dominika, additional, Kashyap, Aniruddh, additional, Jakubowska, Anna, additional, Gronwald, Jacek, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Dębniak, Tadeusz, additional, Masojć, Bartłomiej, additional, Górski, Bohdan, additional, Gromowski, Tomasz, additional, Nagorna, Agnieszka, additional, Gołąb, Adam, additional, Sikorski, Andrzej, additional, Słojewski, Marcin, additional, Gliniewicz, Bartłomiej, additional, Borkowski, Tomasz, additional, Borkowski, Andrzej, additional, Przybyła, Jacek, additional, Sosnowski, Marek, additional, Małkiewicz, Bartosz, additional, Zdrojowy, Romuald, additional, Sikorska-Radek, Paulina, additional, Matych, Józef, additional, Wilkosz, Jacek, additional, Różański, Waldemar, additional, Kiś, Jacek, additional, Bar, Krzysztof, additional, Domagała, Paweł, additional, Stawicka, Małgorzata, additional, Milecki, Piotr, additional, Akbari, Mohammad R., additional, Narod, Steven A., additional, Lubiński, Jan, additional, Cybulski, Cezary, additional, Bryniarski, Piotr, additional, Paradysz, Andrzej, additional, Jersak, Konrad, additional, Niemirowicz, Jerzy, additional, Słupski, Piotr, additional, Jarzemski, Piotr, additional, Skrzypczyk, Michał, additional, Dobruch, Jakub, additional, Domagała, Wenancjusz, additional, Chosia, Maria, additional, van de Wetering, Thierry, additional, Serrano-Fernández, Pablo, additional, Puszyński, Michał, additional, Soczawa, Michał, additional, Świtała, Jerzy, additional, Archimowicz, Sławomir, additional, Kordowski, Mirosław, additional, Życzkowski, Marcin, additional, Borówka, Andrzej, additional, Bagińska, Joanna, additional, Krajka, Kazimierz, additional, Szwiec, Marek, additional, Haus, Olga, additional, Janiszewska, Hanna, additional, Stembalska, Agnieszka, additional, and Sąsiadek, Maria Małgorzata, additional

Published
2013
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