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  1. Research

    The BRCA2 variant c.68-7 T>A is associated with breast cancer

    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 BR...

    Pål Møller and Eivind Hovig

    Hereditary Cancer in Clinical Practice 2017 15:20

    Published on: 13 November 2017

  2. Research

    Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

    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.

    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…

    Hereditary Cancer in Clinical Practice 2017 15:18

    Published on: 10 October 2017

  3. Meeting abstracts

    Meeting abstracts from the Annual Conference on Hereditary Cancers 2015

    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…

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

    Published on: 10 October 2017

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

  4. Review

    Motivators and barriers of tamoxifen use as risk-reducing medication amongst women at increased breast cancer risk: a systematic literature 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 ...

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

    Hereditary Cancer in Clinical Practice 2017 15:14

    Published on: 20 September 2017

  5. Research

    Evaluation of psychosocial aspects in participants of cancer genetic counseling

    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 ...

    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

    Hereditary Cancer in Clinical Practice 2017 15:13

    Published on: 20 September 2017

  6. Case report

    Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1

    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...

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

    Hereditary Cancer in Clinical Practice 2017 15:10

    Published on: 21 July 2017

  7. Review

    Hereditary pancreatic cancer: related syndromes and clinical perspective

    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...

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

    Hereditary Cancer in Clinical Practice 2017 15:9

    Published on: 28 June 2017

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

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