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26.
146 Accesses
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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays
Christopher D Heinen, LJ Rasmussen Hereditary Cancer in Clinical Practice 2012, 10:9 (23 July 2012)
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27.
146 Accesses
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Lynch syndrome: barriers to and facilitators of screening and disease management
Kathy E Watkins, Christine Y Way, Jacqueline J Fiander, Robert J Meadus, Mary Esplen, Jane S Green, Valerie C Ludlow, Holly A Etchegary, Patrick S Parfrey Hereditary Cancer in Clinical Practice 2011, 9:8 (7 September 2011)
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28.
145 Accesses
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Should extragonadal germ cell tumors be included in studies of families with testicular germ cell tumors?
Rodrigo Santa Cruz Guindalini, Edite Paulo de Oliveira, Marina Cavalcanto Moroja Silvino, Paulo Marcelo Hoff, Bernardo Garicochea Hereditary Cancer in Clinical Practice 2013, 11:1 (4 March 2013)
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29.
143 Accesses
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Molecular study of the perforin gene in familial hematological malignancies
Rim El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima Omri, Yosra Youssef, Mohamed Laatiri, Laetitia Huiart, François Eisinger, Laetitia Rabayrol, Marc Frenay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, Saloua Jemni, Testsuro Noguchi, Hagay Sobol, Zohra Soua Hereditary Cancer in Clinical Practice 2011, 9:9 (21 September 2011)
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30.
141 Accesses
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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients
Douglas L Riegert-Johnson, Ferga C Gleeson, Maegan Roberts, Krysta Tholen, Lauren Youngborg, Melvin Bullock, Lisa A Boardman Hereditary Cancer in Clinical Practice 2010, 8:6 (17 June 2010)
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Editor’s summary
In this study from the Mayo clinic, a total of 211 Cowden syndrome patients were included. The cumulative lifetime risks were 89% for any cancer diagnosis, breast cancer [female] 81%, Lhermitte-Duclos disease 32%, thyroid cancer 21%, endometrial cancer 19%, and renal cancer 15%. A previously unreported increased lifetime risk for colorectal cancer was identified (16%, 95% CI = 8%-24%). Male CS patients had fewer cancers diagnosed than female patients and often had cancers not classically associated with CS. Seven percent of breast and thyroid cancers occurred in patients who were younger than the recommended age to commence radiographic cancer screening!
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31.
133 Accesses
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Factors associated with testicular self-examination among unaffected men from multiple-case testicular cancer families
Susan T Vadaparampil, Richard P Moser, Jennifer Loud, June A Peters, Mark H Greene, Larissa Korde Hereditary Cancer in Clinical Practice 2009, 7:11 (29 May 2009)
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32.
132 Accesses
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Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management
Liesbeth Hameetman, Judith VMG Bovée, Antonie HM Taminiau, Herman M Kroon, Pancras CW Hogendoorn Hereditary Cancer in Clinical Practice 2004, 2:161-173 (15 November 2004)
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33.
130 Accesses
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Primary appendiceal mucinous adenocarcinoma in two first-degree relatives: case report and review
Adrianne R Racek, Kari G Rabe, Myra J Wick, Apostolos Psychogios, Noralane M Lindor Hereditary Cancer in Clinical Practice 2011, 9:1 (4 May 2011)
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Editor’s summary
Published accounts of familial instances of primary appendiceal tumors are strikingly rare. The authors report two siblings who both developed primary mucinous adenocarcinomas, and found one additional affected sib-pair among 316 cases of primary appendiceal cancer of any histologic type recorded in the Mayo clinic. Although these cases may be coincidental, an exceedingly rare predisposition syndrome cannot be ruled out.
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34.
129 Accesses
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Factors Influencing Cancer Risk Perception in High Risk Populations: A Systematic Review
Jon C Tilburt, Katherine M James, Pamela S Sinicrope, David T Eton, Brian A Costello, Jantey Carey, Melanie A Lane, Shawna L Ehlers, Patricia J Erwin, Katherine E Nowakowski, Mohammad H Murad Hereditary Cancer in Clinical Practice 2011, 9:2 (19 May 2011)
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Editor’s summary
Patients at higher than average risk of heritable cancer may process risk information differently than the general population. However, little is known about clinical, demographic, or psychosocial predictors that may impact risk perception in these groups. The authors from the Mayo clinic searched literature databases for published research on these topics. Family history of cancer, previous prophylactic tests and treatments, and younger age have been shown to be associated with cancer risk perception. In addition, beliefs about the preventability and severity of cancer, personality factors such as "monitoring" personality, the ability to process numerical information, as well as distress/worry also were associated with cancer risk perception. Few studies addressed non-breast cancer or risk perception in specific demographic groups (e.g. elderly or minority groups) and few employed theory-driven analytic strategies to decipher interrelationships of factors. Clearly, there is need for additional studies.
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35.
128 Accesses
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The Pathology of Hereditary Breast Cancer
Emiliano Honrado, Javier Benítez, José Palacios Hereditary Cancer in Clinical Practice 2004, 2:131-138 (15 July 2004)
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36.
127 Accesses
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Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors
Noralane M Lindor, Jan Kasperbauer, Jean E Lewis, Mark Pittelkow Hereditary Cancer in Clinical Practice 2012, 10:13 (10 October 2012)
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37.
127 Accesses
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Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease
Nikola A Bowden, Amanda Croft, Rodney J Scott Hereditary Cancer in Clinical Practice 2007, 5:79-96 (15 June 2007)
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38.
123 Accesses
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An Introduction to Managing Medullary Thyroid Cancer
Jan de Groot, Thera P Links, Robert MW Hofstra, John TM Plukker Hereditary Cancer in Clinical Practice 2006, 4:115-125 (15 July 2006)
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39.
124 Accesses
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Surveillance of FAP: a prospective blinded comparison of capsule endoscopy and other GI imaging to detect small bowel polyps
Paul Tescher, Finlay A Macrae, Tony Speer, Damien Stella, Robert Gibson, Jason A Tye-Din, Geeta Srivatsa, Ian T Jones, Kaye Marion Hereditary Cancer in Clinical Practice 2010, 8:3 (4 April 2010)
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40.
121 Accesses
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Challenges in the management of a patient with Cowden syndrome: case report and literature review
Inga Melbārde-Gorkuša, Arvīds Irmejs, Dace Bērziņa, Ilze Štrumfa, Arnis Āboliņš, Andris Gardovskis, Signe Subatniece, Genādijs Trofimovičs, Jānis Gardovskis, Edvīns Miklaševičs Hereditary Cancer in Clinical Practice 2012, 10:5 (14 April 2012)
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41.
121 Accesses
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Base excision repair and the role of MUTYH
Carla Kairupan, Rodney J Scott Hereditary Cancer in Clinical Practice 2007, 5:199-209 (15 December 2007)
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42.
119 Accesses
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The R337H mutation in TP53 and breast cancer in Brazil
Magda CB Gomes, Joanne Kotsopoulos, Gutemberg de Almeida, Mauricio M Costa, Roberto Vieira, Firmino de AG Filho, Marcos B Pitombo, Paulo F Leal, Robert Royer, Phil Zhang, Steven A Narod Hereditary Cancer in Clinical Practice 2012, 10:3 (28 March 2012)
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43.
119 Accesses
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How do women at increased, but unexplained, familial risk of breast cancer perceive and manage their risk? A qualitative interview study
Louise A Keogh, Belinda J McClaren, Carmel Apicella, John L Hopper, the Australian Breast Cancer Family Study Hereditary Cancer in Clinical Practice 2011, 9:7 (6 September 2011)
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44.
117 Accesses
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High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients
Evgeny N Suspitsin, Nathalia Sherina, Daria N Ponomariova, Anna P Sokolenko, Aglaya G Iyevleva, Tatyana V Gorodnova, Olga A Zaitseva, Olga S Yatsuk, Alexandr V Togo, Nathalia N Tkachenko, Grigory A Shiyanov, Oksana S Lobeiko, Nadezhda Krylova, Dmitry E Matsko, Sergey Maximov, Adel F Urmancheyeva, Nathalia V Porhanova, Evgeny N Imyanitov Hereditary Cancer in Clinical Practice 2009, 7:5 (25 February 2009)
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45.
117 Accesses
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BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia
Kristiina Tamboom, Krista Kaasik, Jelena Aršavskaja, Mare Tekkel, Aili Lilleorg, Peeter Padrik, Andres Metspalu, Toomas Veidebaum Hereditary Cancer in Clinical Practice 2010, 8:4 (9 April 2010)
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46.
115 Accesses
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Is no news good news? Inconclusive genetic test results in BRCA1 and BRCA2 from patients and professionals' perspectives
Audrey Ardern-Jones, Regina Kenen, Elly Lynch, Rebecca Doherty, Rosalind Eeles Hereditary Cancer in Clinical Practice 2010, 8:1 (12 January 2010)
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47.
115 Accesses
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Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome
Ingrid P Ewald, Patrícia Izetti, Fernando R Vargas, Miguel AM Moreira, Aline S Moreira, Carlos A Moreira-Filho, Danielle R Cunha, Sara Hamaguchi, Suzi A Camey, Aishameriane Schmidt, Maira Caleffi, Patrícia Koehler-Santos, Roberto Giugliani, Patricia Ashton-Prolla Hereditary Cancer in Clinical Practice 2011, 9:12 (20 December 2011)
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48.
115 Accesses
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Familial Breast and Bowel Cancer: Does It Exist?
Rodney J Scott, Katie A Ashton Hereditary Cancer in Clinical Practice 2004, 2:25-29 (15 February 2004)
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49.
113 Accesses
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Novel germline CDK4 mutations in patients with head and neck cancer
Maimoona Sabir, Ruqia Baig, Ishrat Mahjabeen, Mahmood Kayani Hereditary Cancer in Clinical Practice 2012, 10:11 (29 August 2012)
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50.
111 Accesses
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Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario
Yun-Hee Choi, Michelle Cotterchio, Gail McKeown-Eyssen, Monga Neerav, Bharati Bapat, Kevin Boyd, Steven Gallinger, John McLaughlin, Melyssa Aronson, Laurent Briollais Hereditary Cancer in Clinical Practice 2009, 7:14 (23 August 2009)
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