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  1. 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

    Content type: Research

    Published on:

  2. 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

    Content type: Research

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  3. 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

    Content type: Meeting abstracts

    Published on:

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

  4. 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

    Content type: Research

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  5. 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

    Content type: Review

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  6. 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

    Content type: Review

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  9. 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

    Content type: Case report

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  10. 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

    Content type: Review

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  11. 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

    Content type: Review

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  12. 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

    Content type: Research

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  13. 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

    Content type: Case report

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  14. 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

    Content type: Review

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  15. 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

    Content type: Research

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  16. 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

    Content type: Review

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  17. 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

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Research

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  20. 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

    Content type: Research

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  21. 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

    Content type: Case report

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  22. 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

    Content type: Review

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  23. 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

    Content type: Research

    Published on:

  24. 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

    Content type: Review

    Published on:

  25. 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

    Content type: Case report

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  26. 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

    Content type: Research

    Published on:

  27. 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

    Content type: Research

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  28. 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

    Content type: Case report

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  29. 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

    Content type: Research

    Published on:

  30. 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

    Content type: Research

    Published on:

  31. 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

    Content type: Reviewer acknowledgement

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  32. 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 ...

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

    Citation: Hereditary Cancer in Clinical Practice 2016 14:6

    Content type: Research

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  33. 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...

    Authors: 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

    Citation: Hereditary Cancer in Clinical Practice 2016 14:5

    Content type: Research

    Published on:

  34. 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 ...

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

    Citation: Hereditary Cancer in Clinical Practice 2016 14:4

    Content type: Research

    Published on:

  35. Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and

    Authors: Małgorzata Ławniczak, Anna Jakubowska, Andrzej Białek, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katarzyna Kaczmarek and Teresa Starzyńska

    Citation: Hereditary Cancer in Clinical Practice 2016 14:3

    Content type: Research

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  36. Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of cancer death in women. Hereditary cancer represents ...

    Authors: Gabriela C. Fernandes, Rodrigo A. D. Michelli, Cristovam Scapulatempo-Neto and Edenir I. Palmero

    Citation: Hereditary Cancer in Clinical Practice 2016 14:2

    Content type: Research

    Published on:

  37. The role of germline mutations in BRCA1 and BRCA2 genes in the risk of the development of ovarian cancer is clinically well established. BRCA1/2 testing seems to have increasing role in clinical management in pat...

    Authors: Agnieszka Synowiec, Gabriel Wcisło, Lubomir Bodnar, Bohdan Górski, Jolanta Szenajch, Katarzyna Szarlej-Wcisło and Cezary Szczylik

    Citation: Hereditary Cancer in Clinical Practice 2016 14:1

    Content type: Research

    Published on:

  38. Authors: Tomasz Byrski, Tomasz Huzarski, Rebecca Dent, Elzbieta Marczyk, Marek Jasiowka, Jacek Gronwald, Jerzy Jakubowicz, Cezary Cybulski, Rafal Wisniowski, Dariusz Godlewski, Jan Lubinski and Steven A Narod

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A8

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 2

  39. Authors: Magdalena Muszyńska, Wojciech Marciniak, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska and Jan Lubiński

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A7

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 2

  40. Authors: Grzegorz Sukiennicki, Magdalena Muszyńska, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Wojciech Marciniak, Marcin Lener, Katarzyna Durda, Tomasz Gromowski, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska…

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A5

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 2

  41. Authors: Katarzyna Kaczmarek, Magdalena Muszyńska, Katarzyna Jaworska-Bieniek, Wojciech Marciniak, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Gromowski, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska…

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A4

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 2

  42. Authors: Katarzyna Jaworska-Bieniek, Magdalena Muszyńska, Katarzyna Kaczmarek, Wojciech Marciniak, Grzegorz Sukiennicki, Marcin Lener, Katarzyna Durda, Tomasz Gromowski, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Oleg Oszurek, Cezary Cybulski, Tadeusz Dębniak, Antoni Morawski, Anna Jakubowska…

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 2):A3

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 2

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