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  1. Content type: Research

    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

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  2. Content type: Reviewer acknowledgement

    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

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  3. Content type: Research

    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

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  4. Content type: Research

    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

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  5. Content type: Case report

    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

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  6. Content type: Research

    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

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  7. Content type: Letter to the Editor

    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

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  8. Content type: Research

    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

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  9. Content type: Case report

    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

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  10. Content type: Research

    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

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  11. Content type: Research

    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

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  12. Content type: Research

    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

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  13. Content type: Research

    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

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  14. Content type: Research

    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

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  15. Content type: Research

    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

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  16. Content type: Research

    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

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  17. Content type: Research

    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

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  18. Content type: Research

    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

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  19. Content type: Letter to the Editor

    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

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  20. Content type: Research

    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

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  21. Content type: Research

    Approximately 5% of all breast cancers can be attributed to a mutation in the BRCA1 or BRCA2 gene. The genetic component of breast cancer in Colombia has been, for the most part, studied on cases from the Bogota ...

    Authors: Julián Esteban Londoño Hernández, Marcia Llacuachaqui, Gonzalo Vásquez Palacio, Juan David Figueroa, Jorge Madrid, Mauricio Lema, Robert Royer, Song Li, Garrett Larson, Jeffrey N Weitzel and Steven A Narod

    Citation: Hereditary Cancer in Clinical Practice 2014 12:11

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  22. Content type: Research

    Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of...

    Authors: Aneta Bąk, Hanna Janiszewska, Anna Junkiert-Czarnecka, Marta Heise, Maria Pilarska-Deltow, Ryszard Laskowski, Magdalena Pasińska and Olga Haus

    Citation: Hereditary Cancer in Clinical Practice 2014 12:10

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  23. Content type: Research

    As BRCA1/2 testing becomes more routine, questions remain about long-term satisfaction and quality of life following testing. Previously, we described long term distress and risk management outcomes among women w...

    Authors: Gillian W Hooker, Lesley King, Lauren VanHusen, Kristi Graves, Beth N Peshkin, Claudine Isaacs, Kathryn L Taylor, Elizabeth Poggi and Marc D Schwartz

    Citation: Hereditary Cancer in Clinical Practice 2014 12:9

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  24. Content type: Research

    Germline mutations in APC and AXIN2 are both associated with colon neoplasia as well as anomalous dental development. We tested the hypothesis that congenitally missing teeth may occur more commonly in individual...

    Authors: Noralane M Lindor, Aung Ko Win, Steven Gallinger, Darshana Daftary, Stephen N Thibodeau, Renato Silva and Ariadne Letra

    Citation: Hereditary Cancer in Clinical Practice 2014 12:7

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  25. Content type: Research

    The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren’s disease (DD) and in 2157 of their 1st degree relatives. In the first stage of th...

    Authors: Andrzej Żyluk, Katarzyna Paszkowska-Szczur, Satish Gupta, Rodney J Scott, Jan Lubiński and Tadeusz Dębniak

    Citation: Hereditary Cancer in Clinical Practice 2014 12:6

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  26. Content type: Research

    Patients with familial adenomatous polyposis (FAP) are known to have an increased risk for gastric adenomas. The clinical features of gastric adenomas in FAP have not been well characterized, and there is a la...

    Authors: Saowanee Ngamruengphong, Lisa A Boardman, Russell I Heigh, Murli Krishna, Maegan E Roberts and Douglas L Riegert-Johnson

    Citation: Hereditary Cancer in Clinical Practice 2014 12:4

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  27. Content type: Case report

    The association of neurofibromatosis type I with invasive male breast cancer is a rare clinical entity with only one case in literature reported in 1953. Women with NF1 are at risk of developing breast cancer ...

    Authors: Kuntegowdanahalli Chinnagiriyappa Lakshmaiah, Anil N Kumar, Samit Purohit, Belathur Kalegowda Viveka, Kamalakannan Rahul Rajan, Mohammed Abdul Lateef Zameer, Prabhu Namitha, Monika Lamba Saini, Hatem A Azim Jr and Kamal S Saini

    Citation: Hereditary Cancer in Clinical Practice 2014 12:5

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  28. Content type: Research

    Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with gen...

    Authors: Christine M Mueller, Larissa A Korde, Mary L McMaster, June A Peters, Gennady Bratslavsky, Rissah J Watkins, Alex Ling, Christian P Kratz, Eric A Wulfsberg, Philip S Rosenberg and Mark H Greene

    Citation: Hereditary Cancer in Clinical Practice 2014 12:3

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  29. Content type: Research

    Folate plays a pivotal role in DNA synthesis, repair, methylation and homocysteine (Hcy) metabolism. Therefore, alterations in the folate-mediated one-carbon metabolism may lead to abnormal methylation prolife...

    Authors: Xiayu Wu, Tianning Zou, Neng Cao, Juan Ni, Weijiang Xu, Tao Zhou and Xu Wang

    Citation: Hereditary Cancer in Clinical Practice 2014 12:2

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  30. Content type: Research

    Patients with Lynch Syndrome, the most common hereditary colorectal cancer syndrome, benefit from genetic education and family counseling regarding diagnostic testing and cancer surveillance/prevention recomme...

    Authors: Sarah A Bannon, Maureen Mork, Eduardo Vilar, Susan K Peterson, Karen Lu, Patrick M Lynch, Miguel A Rodriguez-Bigas and YiQian Nancy You

    Citation: Hereditary Cancer in Clinical Practice 2014 12:1

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  31. Content type: Research

    Familial adenomatous polyposis (FAP) is usually characterised by the appearance of hundreds-to-thousands of adenomas throughout the colon and rectum and if left untreated the condition will develop into CRC wi...

    Authors: Bente A Talseth-Palmer, Juul T Wijnen, Eva K Andreassen, Daniel Barker, Shantie Jagmohan-Changur, Carli M Tops, Cliff Meldrum, Allan Spigelman, Frederik J Hes, Tom Van Wezel, Hans FA Vasen and Rodney J Scott

    Citation: Hereditary Cancer in Clinical Practice 2013 11:20

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  32. Content type: Research

    Although case–control studies have evaluated the role of variant inflammatory-related loci in prostate cancer, their impact is virtually unknown among men of African descent. To address this, we evaluated the ...

    Authors: Dominique Z Jones, Camille Ragin, Nayla C Kidd, Rafael E Flores-Obando, Maria Jackson, Norma McFarlane-Anderson, Marshall Tulloch-Reid, Kevin S Kimbro and LaCreis R Kidd

    Citation: Hereditary Cancer in Clinical Practice 2013 11:19

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  33. Content type: Research

    Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.

    Authors: Mev Dominguez-Valentin, Mef Nilbert, Patrik Wernhoff, Francisco López-Köstner, Carlos Vaccaro, Carlos Sarroca, Edenir Ines Palmero, Alejandro Giraldo, Patricia Ashton-Prolla, Karin Alvarez, Alejandra Ferro, Florencia Neffa, Junea Caris, Dirce M Carraro and Benedito M Rossi

    Citation: Hereditary Cancer in Clinical Practice 2013 11:18

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  34. Content type: Research

    The effectiveness of a genetics-based public health screening programs depend on the successful recruitment of subjects who qualify for intensified screening by virtue of a positive genetic test. Herein we com...

    Authors: Anna Galor, Cezary Cybulski, Jan Lubiński, Steven A Narod and Jacek Gronwald

    Citation: Hereditary Cancer in Clinical Practice 2013 11:17

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  35. Content type: Review

    Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant predisposition to the development of polyposis in the colon and rectum at unusually early ages. The first symptoms of FAP are diarrhea ...

    Authors: Andrzej Plawski, Tomasz Banasiewicz, Pawel Borun, Lukasz Kubaszewski, Piotr Krokowicz, Marzena Skrzypczak-Zielinska and Jan Lubinski

    Citation: Hereditary Cancer in Clinical Practice 2013 11:15

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  36. Content type: Research

    Little is known about the experience of young women who become aware of their parent’s BRCA1 or BRCA2 (BRCA) mutation status as adolescents or young adults. There is also currently a gap in the literature pert...

    Authors: Lynn Macrae, Alicia Navarro de Souza, Carmen G Loiselle and Nora Wong

    Citation: Hereditary Cancer in Clinical Practice 2013 11:14

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  37. Content type: Research

    Lifetime risk of thyroid cancer associated with FAP has been reported as 1-2%. The mean age at diagnosis of thyroid carcinoma in FAP has been reported at 28 years. The aims of this paper are to better understa...

    Authors: Seth Septer, Voytek Slowik, Ryan Morgan, Hongying Dai and Thomas Attard

    Citation: Hereditary Cancer in Clinical Practice 2013 11:13

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  38. Content type: Review

    Several susceptibility genes differentially impact on the lifetime risk for breast cancer. Technological advances over the past years have enabled the detection of genetic risk factors through high-throughput ...

    Authors: Natalia Bogdanova, Sonja Helbig and Thilo Dörk

    Citation: Hereditary Cancer in Clinical Practice 2013 11:12

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  39. Content type: Case report

    Von Hippel-Lindau disease (VHL disease) is a hereditary cancer predisposition syndrome caused by mutations of the von Hippel-Lindau tumor suppressor gene. The gene product, pVHL, regulates the level of protein...

    Authors: Katarzyna Labno-Kirszniok, Teresa Nieszporek, Andrzej Wiecek, Grzegorz Helbig and Jan Lubinski

    Citation: Hereditary Cancer in Clinical Practice 2013 11:11

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  40. Content type: Research

    Preimplantation genetic diagnosis (PGD) remains nowadays a valid alternative for couples at high-risk of having a child with a genetic disease and for women older than 37–40 years with the high risk of chromos...

    Authors: Danuta Michalska, Kinga Jaguszewska, Joanna Liss, Kamila Kitowska, Agata Mirecka and Krzysztof Łukaszuk

    Citation: Hereditary Cancer in Clinical Practice 2013 11:10

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  41. Content type: Review

    Lynch syndrome (clinically referred to as HNPCC – Hereditary Non-Polyposis Colorectal Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome caused by various germline alteration...

    Authors: Katarzyna Tutlewska, Jan Lubinski and Grzegorz Kurzawski

    Citation: Hereditary Cancer in Clinical Practice 2013 11:9

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  42. Content type: Case report

    Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by...

    Authors: Lorella Paparo, Giovanni Battista Rossi, Paolo Delrio, Daniela Rega, Francesca Duraturo, Raffaella Liccardo, Mario Debellis, Paola Izzo and Marina De Rosa

    Citation: Hereditary Cancer in Clinical Practice 2013 11:8

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  43. Content type: Research

    Most individuals who learn about hereditary cancer manage well, but identification of subgroups who find this knowledge burdening would allow psychosocial intervention. The objective of the study was to assess...

    Authors: Helle Vendel Petersen, Steen Ladelund, Christina Carlsson and Mef Nilbert

    Citation: Hereditary Cancer in Clinical Practice 2013 11:7

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  44. Content type: Research

    Follow-up studies of psoriasis patients indicate an increased risk in the occurrence of malignancies at different sites of origin. Population stratification and/or complicated interpretation of evidence on the...

    Authors: Romuald Maleszka, Katarzyna Paszkowska-Szczur, Ewa Soczawa, Magdalena Boer, Monika Różewicka-Czabańska, Joanna Wiśniewska, Aneta Mirecka, Lidia Krysztoforska, Zygmunt Adamski, Jan Lubinski and Tadeusz Dębniak

    Citation: Hereditary Cancer in Clinical Practice 2013 11:6

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  45. Content type: Letter to the Editor

    PIK3CA is the most frequently mutated oncogene in human cancers. PIK3CA is phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha. It controls cell growth, proliferation, motility, survival, d...

    Authors: Sidra German, Hafiz Muhammad Aslam, Shafaq Saleem, Aisha Raees, Tooba Anum, Arsalan Ahmad Alvi and Abdul Haseeb

    Citation: Hereditary Cancer in Clinical Practice 2013 11:5

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  46. Content type: Review

    Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polypos...

    Authors: Zoran Stojcev, Pawel Borun, Jacek Hermann, Piotr Krokowicz, Wojciech Cichy, Lukasz Kubaszewski, Tomasz Banasiewicz and Andrzej Plawski

    Citation: Hereditary Cancer in Clinical Practice 2013 11:4

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  47. Content type: Research

    Cancer is a shared family experience that might provide an opportunity for lifestyle change among at-risk family members. The purpose of this study was to assess receptivity and preferences for cancer risk red...

    Authors: Lisa A Howell, Pamela S Sinicrope, Tabetha A Brockman, Christi A Patten, Paul A Decker, Shawna L Ehlers, Ashley Nadeau, Kari G Rabe, Carmen Radecki Breitkopf and Gloria M Petersen

    Citation: Hereditary Cancer in Clinical Practice 2013 11:3

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  48. Content type: Review

    The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no cl...

    Authors: Evgeny N Imyanitov and Tomasz Byrski

    Citation: Hereditary Cancer in Clinical Practice 2013 11:2

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