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  1. 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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  2. 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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  3. 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    This article [1] has been retracted at the request of the authors.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

  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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

  13. 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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  14. 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

  15. 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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  16. 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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  17. 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

  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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