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  1. Research

    Hereditary and non-hereditary branches of family eligible for BRCA test: cancers in other sites

    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 ...

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

    Hereditary Cancer in Clinical Practice 2017 15:7

    Published on: 25 May 2017

  2. Case report

    A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

    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. ...

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

    Hereditary Cancer in Clinical Practice 2017 15:6

    Published on: 12 May 2017

  3. Review

    The genetic basis of colonic adenomatous polyposis syndromes

    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...

    Bente A. Talseth-Palmer

    Hereditary Cancer in Clinical Practice 2017 15:5

    Published on: 16 March 2017

  4. Research

    Screening with magnetic resonance imaging, mammography and ultrasound in women at average and intermediate risk of breast cancer

    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...

    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…

    Hereditary Cancer in Clinical Practice 2017 15:4

    Published on: 1 March 2017

  5. Review

    Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines

    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...

    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

    Hereditary Cancer in Clinical Practice 2017 15:3

    Published on: 21 January 2017

  6. Research

    Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer

    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...

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

    Hereditary Cancer in Clinical Practice 2017 15:2

    Published on: 11 January 2017

  7. Research

    Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:20

    Published on: 10 October 2016

  8. Research

    Prevalence of the CHEK2 R95* germline mutation

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:19

    Published on: 27 September 2016

  9. Case report

    Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:18

    Published on: 6 September 2016

  10. Review

    Cytotoxic and targeted therapy for hereditary cancers

    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...

    Aglaya G. Iyevleva and Evgeny N. Imyanitov

    Hereditary Cancer in Clinical Practice 2016 14:17

    Published on: 23 August 2016

  11. Research

    Pedigree based DNA sequencing pipeline for germline genomes of cancer families

    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).

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

    Hereditary Cancer in Clinical Practice 2016 14:16

    Published on: 9 August 2016

  12. Review

    Syndromic gastrointestinal stromal tumors

    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...

    Riccardo Ricci

    Hereditary Cancer in Clinical Practice 2016 14:15

    Published on: 19 July 2016

  13. Case report

    A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome

    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

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

    Hereditary Cancer in Clinical Practice 2016 14:14

    Published on: 12 July 2016

  14. Research

    Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:13

    Published on: 8 June 2016

  15. Research

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:12

    Published on: 1 June 2016

  16. Case report

    An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

    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...

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

    Hereditary Cancer in Clinical Practice 2016 14:11

    Published on: 10 May 2016

  17. Research

    Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group

    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 ...

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

    Hereditary Cancer in Clinical Practice 2016 14:10

    Published on: 30 April 2016

  18. Review

    PALB2: research reaching to clinical outcomes for women with breast cancer

    PALB2 has taken its place with bona fide breast cancer susceptibility genes. It is now well established that women who carry loss-of-function mutations in the PALB2 gene are at similarly elevated breast cancer ri...

    Melissa C. Southey, Ingrid Winship and Tú Nguyen-Dumont

    Hereditary Cancer in Clinical Practice 2016 14:9

    Published on: 19 April 2016

  19. Research

    Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality

    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...

    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

    Hereditary Cancer in Clinical Practice 2016 14:8

    Published on: 14 April 2016

  20. Reviewer acknowledgement

    Thank you to all our manuscript reviewers in 2015

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

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

    Hereditary Cancer in Clinical Practice 2016 14:7

    Published on: 29 February 2016

  21. Research

    When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

    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 ...

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

    Hereditary Cancer in Clinical Practice 2016 14:6

    Published on: 16 February 2016

  22. Research

    Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland

    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...

    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

    Hereditary Cancer in Clinical Practice 2016 14:5

    Published on: 3 February 2016

  23. Research

    Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer

    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 ...

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

    Hereditary Cancer in Clinical Practice 2016 14:4

    Published on: 23 January 2016

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