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  1. Content type: Review

    Pancreatic cancer is a very aggressive disease with a poor prognosis. The majority of them are attributed to sporadic causes, especially to many modifiable risk factors such as tobacco or alcohol abuse. The pr...

    Authors: Sergio Carrera, Aintzane Sancho, Eider Azkona, Josune Azkuna and Guillermo Lopez-Vivanco

    Citation: Hereditary Cancer in Clinical Practice 2017 15:9

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  2. Content type: Review

    Adenosine diphosphate (ADP)-ribosylation factor-like tumour suppressor gene 1(ARLTS1) might be associated with an increased risk of several types of familial cancers. However, previous studies have shown that can...

    Authors: Yan Jiang, Chen-Yang Zhao, Li-Chun Cheng, Bing Xu and Hui-Yi Lv

    Citation: Hereditary Cancer in Clinical Practice 2017 15:8

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  3. Content type: Research

    The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim ...

    Authors: M. Digennaro, D. Sambiasi, S. Tommasi, B. Pilato, S. Diotaiuti, A. Kardhashi, G. Trojano, A. Tufaro and A. V. Paradiso

    Citation: Hereditary Cancer in Clinical Practice 2017 15:7

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  4. Content type: Case report

    The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. ...

    Authors: Caroline Kientz, Marie-Odile Joly, Laurence Faivre, Alix Clemenson, Sophie Dalac, Côme Lepage, Caroline Chapusot, Caroline Jacquot, Renaud Schiappa and Marine Lebrun

    Citation: Hereditary Cancer in Clinical Practice 2017 15:6

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  5. Content type: Review

    Colorectal cancer (CRC) is one of the most common forms of cancer worldwide and familial adenomatous polyposis (FAP) accounts for approximately 1% of all CRCs. Adenomatous polyposis syndromes can be divided in...

    Authors: Bente A. Talseth-Palmer

    Citation: Hereditary Cancer in Clinical Practice 2017 15:5

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  6. Content type: Research

    The addition of MRI to mammography and ultrasound for breast cancer screening has been shown to improve screening sensitivity for high risk women, but there is little data to date for women at average or inter...

    Authors: Tomasz Huzarski, Barbara Górecka-Szyld, Jowita Huzarska, Grażyna Psut-Muszyńska, Grażyna Wilk, Robert Sibilski, Cezary Cybulski, Beata Kozak-Klonowska, Monika Siołek, Ewa Kilar, Dorota Czudowska, Hanna Janiszewska, Dariusz Godlewski, Andrzej Mackiewicz, Joanna Jarkiewicz-Tretyn, Jadwiga Szabo-Moskal…

    Citation: Hereditary Cancer in Clinical Practice 2017 15:4

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  7. Content type: Review

    Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagno...

    Authors: Marcia Cruz-Correa, Julyann Pérez-Mayoral, Julie Dutil, Miguel Echenique, Rafael Mosquera, Keila Rivera-Román, Sharee Umpierre, Segundo Rodriguez-Quilichini, Maria Gonzalez-Pons, Myrta I. Olivera and Sherly Pardo

    Citation: Hereditary Cancer in Clinical Practice 2017 15:3

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  8. Content type: Research

    Women carrying BRCA-mutations are facing significant challenges, including decision making regarding surveillance and risk-reducing surgery. They often report that they are left alone with these important decisio...

    Authors: Wenche Listøl, Hildegunn Høberg-Vetti, Geir Egil Eide and Cathrine Bjorvatn

    Citation: Hereditary Cancer in Clinical Practice 2017 15:2

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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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