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  1. Content type: Research

    Familial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consist...

    Authors: Merran Holmes, Toni Connor, Christopher Oldmeadow, Peter G. Pockney, Rodney J. Scott and Bente A. Talseth-Palmer

    Citation: Hereditary Cancer in Clinical Practice 2018 16:14

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  2. Content type: Research

    National guidelines recommend genetic counseling for all ovarian cancer patients because up to 20% of ovarian cancers are thought to be due to hereditary cancer syndromes and effective cancer screening and pre...

    Authors: Rachel Isaksson Vogel, Kristin Niendorf, Heewon Lee, Sue Petzel, Hee Yun Lee and Melissa A. Geller

    Citation: Hereditary Cancer in Clinical Practice 2018 16:13

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  3. Content type: Research

    Pathogenic BRCA1 founder mutations (c.4035delA, c.5266dupC) contribute to 3.77% of all consecutive primary breast cancers and 9.9% of all consecutive primary ovarian cancers. Identifying germline pathogenic gene ...

    Authors: J. Maksimenko, A. Irmejs, G. Trofimovičs, D. Bērziņa, E. Skuja, G. Purkalne, E. Miklaševičs and J. Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2018 16:12

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  4. Content type: Research

    Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is...

    Authors: Jennifer L. Schneider, Katrina A. B. Goddard, Kristin R. Muessig, James V. Davis, Alan F. Rope, Jessica E. Hunter, Susan K. Peterson, Louise S. Acheson, Sapna Syngal, Georgia L. Wiesner and Jacob A. Reiss

    Citation: Hereditary Cancer in Clinical Practice 2018 16:11

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  5. Content type: Retraction Note

    This article [1] has been retracted at the request of the authors. Upon re-review of the data, the authors identified coding errors in this study.

    Authors: Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2018 16:10

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    The original article was published in Hereditary Cancer in Clinical Practice 2017 15:20

  6. Content type: Research

    There is increasing evidence of high platinum sensitivity in BRCA-associated breast cancer. However, evidence from randomized trials is lacking. The aim of this study was to analyze the results of platinum-based ...

    Authors: Nikolai Havn Sæther, Elina Skuja, Arvids Irmejs, Jelena Maksimenko, Edvins Miklasevics, Gunta Purkalne and Janis Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2018 16:9

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  7. Content type: Research

    African-American women, especially in the southern United States, are underrepresented in cancer genetics research. A study was designed to address this issue by investigating the germline mutation rate in Afr...

    Authors: Amanda J. Compadre, Melinda E. Simonson, Katy Gray, Gail Runnells, Susan Kadlubar and Kristin K. Zorn

    Citation: Hereditary Cancer in Clinical Practice 2018 16:8

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  8. Content type: Case report

    Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria fo...

    Authors: Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F. Schaeffer, Daniel Renouf and Kasmintan A. Schrader

    Citation: Hereditary Cancer in Clinical Practice 2018 16:7

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  9. Content type: Research

    Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovaria...

    Authors: Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A. Narod and Jacek Gronwald

    Citation: Hereditary Cancer in Clinical Practice 2018 16:6

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  10. Content type: Research

    In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, whic...

    Authors: Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2018 16:4

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  11. Content type: Research

    Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients ...

    Authors: Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal and Lovise Mæhle

    Citation: Hereditary Cancer in Clinical Practice 2018 16:3

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  12. Content type: Research

    Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous syste...

    Authors: Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C. Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C. Jansen, Vera Van Velthoven and Sven Gläsker

    Citation: Hereditary Cancer in Clinical Practice 2018 16:2

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  13. Content type: Research

    Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad sp...

    Authors: Sabrina A. Gardner, Katelyn S. Weymouth, Wei S. Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M. Okamoto, Geraldine McDowell, Melissa A. Hayden and Narasimhan Nagan

    Citation: Hereditary Cancer in Clinical Practice 2018 16:1

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  14. Content type: Meeting abstracts

    Authors: C. Cybulski, W. Kluźniak, T. Huzarski, D. Wokołorczyk, A. Kashyap, A. Jakubowska, M. Szwiec, T. Byrski, T. Dębniak, B. Górski, V. Sopik, M. R. Akbari, P. Sun, J. Gronwald, S. A. Narod, J. Lubiński…

    Citation: Hereditary Cancer in Clinical Practice 2017 15(Suppl 2):21

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    This article is part of a Supplement: Volume 15 Supplement 2

  15. Content type: Research

    Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the col...

    Authors: Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl…

    Citation: Hereditary Cancer in Clinical Practice 2017 15:22

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  16. Content type: Research

    BRCA2 c.68-7T>A has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic BRCA2 var...

    Authors: Pål Møller and Eivind Hovig

    Citation: Hereditary Cancer in Clinical Practice 2017 15:20

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    The Retraction Note to this article has been published in Hereditary Cancer in Clinical Practice 2018 16:10

  17. Content type: Research

    Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary na...

    Authors: Wenjing Jian, Kang Shao, Qi Qin, Xiaohong Wang, Shufen Song and Xianming Wang

    Citation: Hereditary Cancer in Clinical Practice 2017 15:19

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  18. Content type: Research

    We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy.

    Authors: Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken…

    Citation: Hereditary Cancer in Clinical Practice 2017 15:18

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  19. Content type: Meeting abstracts

    Authors: Ella R. Thompson, Michelle Wong-Brown, Simone M. Rowley, Susan Dooley, Na Lil, Michael Hipwell, Simone McInerny, Cliff Meldrum, Lisa Devereux, David Mossman, Alison H. Trainer, Briar-Rose Millar, Gillian Mitchell, Cate Smith, Paul A. James, Ian G. Campbell…

    Citation: Hereditary Cancer in Clinical Practice 2017 15(Suppl 1):17

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    This article is part of a Supplement: Volume 15 Supplement 1

  20. Content type: Research

    BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and as...

    Authors: Sara Mella, Barbara Muzzatti, Riccardo Dolcetti and Maria Antonietta Annunziata

    Citation: Hereditary Cancer in Clinical Practice 2017 15:16

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  21. Content type: Review

    Germline variants within BRCA1 or BRCA2 genes account for approximately 25% of familial aggregations of breast-ovarian cancers. Low or no expression of BRCA1 in breast and ovarian cancers is associated with a ...

    Authors: Agnieszka Strumidło, Sylwia Skiba, Rodney J. Scott and Jan Lubiński

    Citation: Hereditary Cancer in Clinical Practice 2017 15:15

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  22. Content type: Review

    Selective estrogen receptor modulators, such as tamoxifen, reduce breast cancer risk by up to 50% in women at increased risk for breast cancer. Despite tamoxifen’s well-established efficacy, many studies show ...

    Authors: B. Meiser, W. K. T. Wong, M. Peate, C. Julian-Reynier, J. Kirk and G. Mitchell

    Citation: Hereditary Cancer in Clinical Practice 2017 15:14

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  23. Content type: Research

    The instrument called “Hospital Anxiety and Depression Scale” (HADS) is frequently used to evaluate anxious and depressive symptomatology in patients who receive Cancer Genetic Counseling (CGC). However, this ...

    Authors: Leivy Patricia González-Ramírez, Reyna Martínez-Arriaga, Erendira Camacho-Cárdenas, Azucena Del Toro-Valero, Antonio Oceguera-Villanueva, Livia Zagamé, Aída Araceli Silva-García and Adrián Daneri-Navarro

    Citation: Hereditary Cancer in Clinical Practice 2017 15:13

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  24. Content type: Research

    Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than ...

    Authors: Hanoon P. Pokharel, Neville F. Hacker and Lesley Andrews

    Citation: Hereditary Cancer in Clinical Practice 2017 15:12

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  25. Content type: Case report

    Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidis...

    Authors: Charu Kaiwar, Sarah K. Macklin, Jennifer M. Gass, Jessica Jackson, Eric W. Klee, Stephanie L. Hines, John A. Stauffer and Paldeep S. Atwal

    Citation: Hereditary Cancer in Clinical Practice 2017 15:10

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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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