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Hereditary Cancer in Clinical Practice

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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

  6. 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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  7. 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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  8. 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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  9. 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

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