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  1. Authors: Wojciech Marciniak, Magdalena Muszyńska, 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):A6

    Content type: Meeting abstract

    Published on:

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

  2. Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic backgrou...

    Authors: Ielizaveta Gorodetska, Svitlana Serga, Natalia Levkovich, Tetiana Lahuta, Ludmila Ostapchenko, Serhyi Demydov, Nikolay Anikusko, Valeriy Cheshuk, Ivan Smolanka, Svitlana Sklyar, Serhyi Polenkov, Oleksander Boichenko and Iryna Kozeretska

    Citation: Hereditary Cancer in Clinical Practice 2015 13:19

    Content type: Letter to the Editor

    Published on:

  3. Authors: Szymon Hryhorowicz, Katarzyna Ziemnicka, Marta Kaczmarek-Rys, Justyna Hoppe-Golebiewska, Andrzej Plawski, Marzena Skrzypczak-Zielinska, Monika Golab, Malgorzata Szkudlarek, Batlomiej Budny, Marek Ruchala and Ryszard Slomsk

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 1):A15

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

  4. Authors: Marcin Lener, Anna Wiechowska-Kozlowska, Rodney J Scott, Magdalena Muszynska, Jozef Kladny, Piotr Waloszczyk, Anna Rutkowska, Grzegorz Sukiennicki, Tomasz Gromowski, Katarzyna Jaworska-Bieniek, Thierry van de Wetering, Katarzyna Kaczmarek, Anna Jakubowska and Jan Lubinski

    Citation: Hereditary Cancer in Clinical Practice 2015 13(Suppl 1):A14

    Content type: Meeting abstract

    Published on:

    This article is part of a Supplement: Volume 13 Supplement 1

  5. Genetic screening in families with high risk to develop colorectal cancer (CRC) prevents incurable disease and permits personalized therapeutic and follow-up strategies. The advancement of next-generation sequ...

    Authors: Michele Simbolo, Andrea Mafficini, Marco Agostini, Corrado Pedrazzani, Chiara Bedin, Emanuele D. Urso, Donato Nitti, Giona Turri, Maria Scardoni, Matteo Fassan and Aldo Scarpa

    Citation: Hereditary Cancer in Clinical Practice 2015 13:18

    Content type: Research

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  6. Screening for BRCA 1 and BRCA 2 mutations has long moved from the research lab to the clinic as a routine clinical genetic testing. BRCA molecular alteration pattern varies among ethnic groups which makes it a...

    Authors: Alexandra Tsigginou, Fotios Vlachopoulos, Iordanis Arzimanoglou, Flora Zagouri and Constantine Dimitrakakis

    Citation: Hereditary Cancer in Clinical Practice 2015 13:17

    Content type: Review

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  7. Approximately 30 % of all breast cancer is at least partly attributed to hereditary factors. Familial breast cancer is often inherited in the context of cancer syndromes. The most commonly mutated genes are BR...

    Authors: Camilla Wendt, Annika Lindblom, Brita Arver, Anna von Wachenfeldt and Sara Margolin

    Citation: Hereditary Cancer in Clinical Practice 2015 13:15

    Content type: Research

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  8. Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extrem...

    Authors: Cecilie Heramb, Per Olaf Ekstrøm, Kukatharmini Tharmaratnam, Eivind Hovig, Pål Møller and Lovise Mæhle

    Citation: Hereditary Cancer in Clinical Practice 2015 13:14

    Content type: Research

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  9. Pancreatic cancer (PancCa) is recognized as a component of many well-described hereditary cancer syndromes. Minimal research has focused on patient needs and experiences living with this risk.

    Authors: Meghan Underhill, Donna Berry, Emily Dalton, Jaclyn Schienda and Sapna Syngal

    Citation: Hereditary Cancer in Clinical Practice 2015 13:13

    Content type: Research

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  10. Advancements in genomic testing have led to the identification of single nucleotide polymorphisms (SNPs) associated with prostate cancer. The clinical utility of SNP tests to evaluate prostate cancer risk is u...

    Authors: Michael J Hall, Karen J Ruth, David YT Chen, Laura M Gross and Veda N Giri

    Citation: Hereditary Cancer in Clinical Practice 2015 13:11

    Content type: Research

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  11. Women who carry a mutation for Lynch syndrome face complex decisions regarding strategies for managing their increased cancer risks. At present, there is limited understanding of the factors influencing women’...

    Authors: Holly Etchegary, Elizabeth Dicks, Kathy Watkins, Sabrina Alani and Lesa Dawson

    Citation: Hereditary Cancer in Clinical Practice 2015 13:10

    Content type: Research

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  12. The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2014.

    Authors: Jan Lubinski, Rodney J Scott, Rolf Sijmons and Katie Bayliss

    Citation: Hereditary Cancer in Clinical Practice 2015 13:9

    Content type: Reviewer acknowledgement

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  13. Differentiated thyroid carcinoma (DTC) originates from thyroid follicular epithelial cells and belongs to a group of slowly progressing tumors with a relatively good prognosis. However, recurrences and metasta...

    Authors: Marta Kaczmarek-Ryś, Katarzyna Ziemnicka, Szymon T Hryhorowicz, Katarzyna Górczak, Justyna Hoppe-Gołębiewska, Marzena Skrzypczak-Zielińska, Michalina Tomys, Monika Gołąb, Malgorzata Szkudlarek, Bartłomiej Budny, Idzi Siatkowski, Paweł Gut, Marek Ruchała, Ryszard Słomski and Andrzej Pławski

    Citation: Hereditary Cancer in Clinical Practice 2015 13:8

    Content type: Research

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  14. Hereditary triple-negative breast cancer patients have better recurrence-free survival than triple-negative sporadic ones. High expression of some of the miRNAs is related to worse overall and disease-free sur...

    Authors: Dagnija Kalniete, Miki Nakazawa-Miklaševiča, Ilze Štrumfa, Arnis Āboliņš, Arvīds Irmejs, Jānis Gardovskis and Edvīns Miklaševičs

    Citation: Hereditary Cancer in Clinical Practice 2015 13:7

    Content type: Research

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  15. A 46-year-old female presents with a pelvic mass and is diagnosed as having a high-grade endometrial stromal sarcoma. During surgery, she is noted to have areas of intussusception of the small bowel secondary ...

    Authors: Maria Fernanda Noriega-Iriondo, Gerardo Colon-Otero, Benjamin R Kipp, John A Copland, Matthew J Ferber, Laura A Marlow, Maegan E Roberts, Matthew W Robertson, Tri A Dinh, Steven Attia, Xochiquetzal J Geiger and Douglas L Riegert-Johnson

    Citation: Hereditary Cancer in Clinical Practice 2015 13:6

    Content type: Case report

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  16. Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant inherited endocrine malignancy syndrome. Early and normative surgery is the only curative method for MEN 2-related medullary thyroid carcinom...

    Authors: Jian-Qiang Zhao, Zhen-Guang Chen and Xiao-Ping Qi

    Citation: Hereditary Cancer in Clinical Practice 2015 13:5

    Content type: Research

    Published on:

  17. Poly (ADP-ribose) polymerases, abbreviated as PARPs, are a group of familiar proteins that play a central role in DNA repair employing the base excision repair (BER) pathway. There about 17 proteins in this fa...

    Authors: Maheen Anwar, Hafiz Muhammad Aslam and Shahzad Anwar

    Citation: Hereditary Cancer in Clinical Practice 2015 13:4

    Content type: Letter to the Editor

    Published on:

  18. Over half the cancer deaths in HNPCC families are due to extra-colonic malignancies that include endometrial and ovarian cancers. The benefits of surveillance for gynecological cancers are not yet proven and t...

    Authors: Tadeusz Dębniak, Tomasz Gromowski, Rodney J Scott, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Grzegorz Kurzawski, Dagmara Dymerska, Bohdan Górski, Katarzyna Paszkowska-Szczur, Cezary Cybulski, Pablo Serrano-Fernandez and Jan Lubiński

    Citation: Hereditary Cancer in Clinical Practice 2015 13:3

    Content type: Research

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  19. Male breast cancer (MBC) is an uncommon disease that has been the focus of limited research. It is estimated that approximately 10% of men with breast cancer have a genetic predisposition, with BRCA2 being the mo...

    Authors: Ana Rafaela de Souza Timoteo, Betina Menezes Albuquerque, Patricia Pascoto Pascoto Moura, Carlos Cesar de Oliveira Ramos, Lucymara Fassarela Agnez-Lima, Tom Walsh, Mary-Claire King and Tirzah Braz Petta Lajus

    Citation: Hereditary Cancer in Clinical Practice 2015 13:2

    Content type: Case report

    Published on:

  20. Breast cancer is the most common cancer in the UK. Lifestyle factors including excess weight contribute to risk of developing the disease. Whilst the exact links between weight and breast cancer are still emer...

    Authors: Claire E Wright, Michelle Harvie, Anthony Howell, D Gareth Evans, Nick Hulbert-Williams and Louise S Donnelly

    Citation: Hereditary Cancer in Clinical Practice 2015 13:1

    Content type: Research

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  21. MUTYH- associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a rema...

    Authors: Ewout P Boesaard, Ingrid P Vogelaar, Peter Bult, Carla AP Wauters, J Han JM van Krieken, Marjolijn JL Ligtenberg, Rachel S van der Post and Nicoline Hoogerbrugge

    Citation: Hereditary Cancer in Clinical Practice 2014 12:21

    Content type: Research

    Published on:

  22. Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From three case-control studies of cutaneous melanoma, we estimated the prevalence and predictors of these mutations for people from regions with wid...

    Authors: Mark Harland, Anne E Cust, Celia Badenas, Yu-Mei Chang, Elizabeth A Holland, Paula Aguilera, Joanne F Aitken, Bruce K Armstrong, Jennifer H Barrett, Cristina Carrera, May Chan, Joanne Gascoyne, Graham G Giles, Chantelle Agha-Hamilton, John L Hopper, Mark A Jenkins…

    Citation: Hereditary Cancer in Clinical Practice 2014 12:20

    Content type: Research

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  23. PALB2 has emerged as a breast cancer susceptibility gene. Mutations in PALB2 have been identified in almost all breast cancer populations studied to date, but the rarity of these mutations and lack of informatio...

    Authors: Taila Hartley, Luca Cavallone, Nelly Sabbaghian, Rachel Silva-Smith, Nancy Hamel, Olga Aleynikova, Erika Smith, Valerie Hastings, Pedro Pinto, Marc Tischkowitz, Eva Tomiak and William D Foulkes

    Citation: Hereditary Cancer in Clinical Practice 2014 12:19

    Content type: Research

    Published on:

  24. Hereditary diffuse gastric cancer (HDGC) is a hereditary autosomal inherited syndrome associated with CDH1 germline mutations. In Brazil, gastrointestinal tumors are among the most prevalent tumor types and const...

    Authors: Caroline Aquino Moreira-Nunes, Mariceli Baia Leão Barros, Bárbara do Nascimento Borges, Raquel Carvalho Montenegro, Leticia Martins Lamarão, Helem Ferreira Ribeiro, Amanda Braga Bona, Paulo Pimentel Assumpção, Juan Antonio Rey, Giovanny Rebouças Pinto and Rommel Rodriguez Burbano

    Citation: Hereditary Cancer in Clinical Practice 2014 12:18

    Content type: Research

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  25. Loss of cadherin 1 (CDH1) expression, which is normally involved in cell adhesion and maintenance of tissue architecture, is a hallmark of invasive lobular carcinoma (ILCA). Because hereditary cancers may requ...

    Authors: Allyson L Valente, Seth Rummel, Craig D Shriver and Rachel E Ellsworth

    Citation: Hereditary Cancer in Clinical Practice 2014 12:17

    Content type: Research

    Published on:

  26. Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of th...

    Authors: Karol Krzystolik, Anna Jakubowska, Jacek Gronwald, Maciej R Krawczyński, Monika Drobek-Słowik, Leszek Sagan, Leszek Cyryłowski, Wojciech Lubiński, Jan Lubiński and Cezary Cybulski

    Citation: Hereditary Cancer in Clinical Practice 2014 12:16

    Content type: Research

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  27. Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that...

    Authors: Amy L Masson, Bente A Talseth-Palmer, Tiffany-Jane Evans, Desma M Grice, Garry N Hannan and Rodney J Scott

    Citation: Hereditary Cancer in Clinical Practice 2014 12:15

    Content type: Research

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  28. Uterine cancer (UC) represents 5.1% of all female malignancies in Sweden. Accumulation of UC in families occurs in around 5% of cases. We wanted to identify any familial association between UC and other select...

    Authors: Gerasimos Tzortzatos, Ofra Wersäll, Kristina Gemzell Danielsson, Annika Lindblom, Emma Tham and Miriam Mints

    Citation: Hereditary Cancer in Clinical Practice 2014 12:14

    Content type: Research

    Published on:

  29. The Wnt proteins are a family of 19 secreted glycoproteins that occupy crucial roles in the regulation of processes such as cell survival, proliferation, migration and polarity, cell fate specification, body a...

    Authors: Asfandyar Sheikh, Asfandyar Khan Niazi, Muhammad Zafar Ahmed, Bushra Iqbal, Syed Muhammad Saad Anwer and Hira Hussain Khan

    Citation: Hereditary Cancer in Clinical Practice 2014 12:13

    Content type: Letter to the Editor

    Published on:

  30. Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was to e...

    Authors: Eli Marie Grindedal, Harald Aarset, Inga Bjørnevoll, Elin Røyset, Lovise Mæhle, Astrid Stormorken, Cecilie Heramb, Heidi Medvik, Pål Møller and Wenche Sjursen

    Citation: Hereditary Cancer in Clinical Practice 2014 12:12

    Content type: Research

    Published on:

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