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Hereditary Cancer in Clinical Practice

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  1. Content type: Research

    There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lync...

    Authors: Emma Steel, Andrew Robbins, Mark Jenkins, Louisa Flander, Clara Gaff and Louise Keogh

    Citation: Hereditary Cancer in Clinical Practice 2017 15:1

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  2. Content type: Research

    Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case r...

    Authors: Ana Sánchez Azofra, Trilokesh D. Kidambi, Rita J. Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich and Jonathan P. Terdiman

    Citation: Hereditary Cancer in Clinical Practice 2016 14:20

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  3. Content type: Research

    While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R...

    Authors: Stian Knappskog, Beryl Leirvaag, Liv B. Gansmo, Pål Romundstad, Kristian Hveem, Lars Vatten and Per E. Lønning

    Citation: Hereditary Cancer in Clinical Practice 2016 14:19

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  4. Content type: Case report

    Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such a...

    Authors: Matilde Pensabene, Caterina Condello, Chiara Carlomagno, Sabino De Placido, Raffaella Liccardo and Francesca Duraturo

    Citation: Hereditary Cancer in Clinical Practice 2016 14:18

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  5. Content type: Review

    There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, whic...

    Authors: Aglaya G. Iyevleva and Evgeny N. Imyanitov

    Citation: Hereditary Cancer in Clinical Practice 2016 14:17

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  6. Content type: Research

    In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP).

    Authors: Asta Försti, Abhishek Kumar, Nagarajan Paramasivam, Matthias Schlesner, Calogerina Catalano, Dagmara Dymerska, Jan Lubinski, Roland Eils and Kari Hemminki

    Citation: Hereditary Cancer in Clinical Practice 2016 14:16

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  7. Content type: Review

    Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract. They feature heterogeneous triggering mechanisms, implying relevant clinical differences. The vast m...

    Authors: Riccardo Ricci

    Citation: Hereditary Cancer in Clinical Practice 2016 14:15

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  8. Content type: Case report

    Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1

    Authors: Muhammad U. Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed A. Yusuf, Jan Lubiński, Anna Jakubowska and Ute Hamann

    Citation: Hereditary Cancer in Clinical Practice 2016 14:14

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  9. Content type: Research

    Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish p...

    Authors: Marc Bennedbæk, Maria Rossing, Åse K. Rasmussen, Anne-Marie Gerdes, Anne-Bine Skytte, Uffe B. Jensen, Finn C. Nielsen and Thomas v. O. Hansen

    Citation: Hereditary Cancer in Clinical Practice 2016 14:13

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  10. Content type: Research

    The decision to test for high risk breast cancer gene mutations is traditionally based on risk scores derived from age, family and personal cancer history. Next generation sequencing technologies such as whole...

    Authors: Charlotte Warren-Gash, Mark Kroese, Hilary Burton and Paul Pharoah

    Citation: Hereditary Cancer in Clinical Practice 2016 14:12

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  11. Content type: Case report

    Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neuro...

    Authors: Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck and Hans K. Schackert

    Citation: Hereditary Cancer in Clinical Practice 2016 14:11

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  12. Content type: Research

    One way of evaluating family history (FH) for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the “BRCA-ness” of a pedigree by comparing it to reference populations. The aim of ...

    Authors: C. H. H. Kerkhofs, A. B. Spurdle, P. J. Lindsey, D. E. Goldgar and E. B. Gómez-García

    Citation: Hereditary Cancer in Clinical Practice 2016 14:10

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  13. Content type: Research

    The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast can...

    Authors: D. G. Evans, E. F. Harkness, A. Howell, M. Wilson, E. Hurley, M. M. Holmen, K. U. Tharmaratnam, A. I. Hagen, Y. Lim, A. J. Maxwell and P. Moller

    Citation: Hereditary Cancer in Clinical Practice 2016 14:8

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  14. Content type: Reviewer acknowledgement

    The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2015.

    Authors: Jan Lubinski, Rodney J. Scott, Rolf Sijmons and Sarah M. Theissen

    Citation: Hereditary Cancer in Clinical Practice 2016 14:7

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  15. Content type: Research

    Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 ...

    Authors: Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D. Spigelman, Cliff J. Meldrum, Susan Dooley and Rodney J. Scott

    Citation: Hereditary Cancer in Clinical Practice 2016 14:6

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  16. Content type: Research

    Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been exam...

    Authors: P. Wojcik, M. Jasiowka, E. Strycharz, M. Sobol, D. Hodorowicz-Zaniewska, P. Skotnicki, T. Byrski, P. Blecharz, E. Marczyk, I. Cedrych, J. Jakubowicz, J. Lubiński, V. Sopik, S. Narod and P. Pierzchalski

    Citation: Hereditary Cancer in Clinical Practice 2016 14:5

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  17. Content type: Research

    Treatment outcomes appear to be better for ovarian cancer (OC) patients carrying the BRCA1/2 germline mutation than for patients with sporadic OC. However, most published data are for North American, British and ...

    Authors: Wiktor Szatkowski, Paweł Blecharz, Jerzy W. Mituś, Marek Jasiówka, Elżbieta Łuczyńska, Jerzy Jakubowicz and Tomasz Byrski

    Citation: Hereditary Cancer in Clinical Practice 2016 14:4

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  18. Content type: Research

    Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and

    Authors: Małgorzata Ławniczak, Anna Jakubowska, Andrzej Białek, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Kaczmarek and Teresa Starzyńska

    Citation: Hereditary Cancer in Clinical Practice 2016 14:3

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  19. Content type: Research

    Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of cancer death in women. Hereditary cancer represents ...

    Authors: Gabriela C. Fernandes, Rodrigo A. D. Michelli, Cristovam Scapulatempo-Neto and Edenir I. Palmero

    Citation: Hereditary Cancer in Clinical Practice 2016 14:2

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  20. Content type: Research

    The role of germline mutations in BRCA1 and BRCA2 genes in the risk of the development of ovarian cancer is clinically well established. BRCA1/2 testing seems to have increasing role in clinical management in pat...

    Authors: Agnieszka Synowiec, Gabriel Wcisło, Lubomir Bodnar, Bohdan Górski, Jolanta Szenajch, Katarzyna Szarlej-Wcisło and Cezary Szczylik

    Citation: Hereditary Cancer in Clinical Practice 2016 14:1

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  21. Content type: Meeting abstract

    Authors: Katarzyna Jaworska-Bieniek, Magdalena Muszyńska, Katarzyna Kaczmarek, Wojciech Marciniak, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Gromowski, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska…

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A3

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    This article is part of a Supplement: Volume 13 Supplement 2

  22. Content type: Meeting abstract

    Authors: Tomasz Byrski, Tomasz Huzarski, Rebecca Dent, Elzbieta Marczyk, Marek Jasiowka, Jacek Gronwald, Jerzy Jakubowicz, Cezary Cybulski, Rafal Wisniowski, Dariusz Godlewski, Jan Lubinski and Steven A Narod

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A8

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    This article is part of a Supplement: Volume 13 Supplement 2

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