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26.

146
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

27.

146
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

28.

145
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed

29.

143
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

30.

141
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central |  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!

31.

133
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

32.

132
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

33.

130
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed |  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.

34.

129
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central |  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.

35.

128
Accesses

Review   Open Access

The Pathology of Hereditary Breast Cancer

Emiliano Honrado, Javier Benítez, José Palacios Hereditary Cancer in Clinical Practice 2004, 2:131-138 (15 July 2004)

Abstract | Full text | PDF | PubMed

36.

127
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed

37.

127
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

38.

123
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

39.

124
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

40.

121
Accesses

Case report   Open Access

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)

Abstract | Full text | PDF | PubMed

41.

121
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

42.

119
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

43.

119
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

44.

117
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

45.

117
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

46.

115
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

47.

115
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

48.

115
Accesses

Review   Open Access

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)

Abstract | Full text | PDF | PubMed

49.

113
Accesses

Research   Open Access

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)

Abstract | Full text | PDF | PubMed

50.

111
Accesses

Research   Open Access Highly Accessed

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)

Abstract | Full text | PDF | PubMed

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