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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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

    The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2022 20:20

  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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

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

  22. Authors: Magdalena Muszyńska, Wojciech Marciniak, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A7

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

  23. Authors: Wojciech Marciniak, Magdalena Muszyńska, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A6

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

  24. Authors: Grzegorz Sukiennicki, Magdalena Muszyńska, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Wojciech Marciniak, 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):A5

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

  25. Authors: Katarzyna Kaczmarek, Magdalena Muszyńska, Katarzyna Jaworska-Bieniek, 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):A4

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

  26. 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

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

  27. Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic backgrou...

    Authors: Ielizaveta Gorodetska, Svitlana Serga, Natalia Levkovich, Tetiana Lahuta, Ludmila Ostapchenko, Serhyi Demydov, Nikolay Anikusko, Valeriy Cheshuk, Ivan Smolanka, Svitlana Sklyar, Serhyi Polenkov, Oleksander Boichenko and Iryna Kozeretska
    Citation: Hereditary Cancer in Clinical Practice 2015 13:19

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