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1.
381
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Novel germline MSH2 mutation in Lynch syndrome patient surviving multiple cancers
Ramunas Janavicius, Pavel Elsakov Hereditary Cancer in Clinical Practice 2012, 10:1 (10 January 2012)
Abstract | Provisional PDF
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2.
254
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Prevalence of the BRCA1 founder mutation c.5266dup in Brazilian individuals at-risk for the Hereditary Breast and Ovarian Cancer Syndrome
Ingrid P Ewald, Patricia R Izetti, Fernando R Vargas, Miguel A M Moreira, Aline S Moreira, Carlos A Moreira-Filho, Danielle R Cunha, Sara Hamaguchi, Suzi A Camey, Aishameriane Schmidt, Maira Caleffi, Patricia Koehler-Santos, Roberto Giugliani, Patricia Ashton-Prolla Hereditary Cancer in Clinical Practice 2011, 9:12 (20 December 2011)
Abstract | Provisional PDF
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3.
179
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Unusual presentation of Lynch Syndrome
Veronica PCC Yu, Marco Novelli, Stewart J Payne, Sam Fisher, Rebecca A Barnetson, Ian M Frayling, Ann Barrett, David Goudie, Audrey Ardern-Jones, Ros Eeles, Susan Shanley Hereditary Cancer in Clinical Practice 2009, 7:12 (3 June 2009)
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166
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Familial Multiple Myeloma: Report on Two Families and Discussion of Screening Options
Erica H Gerkes, Mirjam M de Jong, Rolf H Sijmons, Edo Vellenga Hereditary Cancer in Clinical Practice 2007, 5:72-78 (15 June 2007)
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150
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The CHEK 2 GENE mutations and the risk of Gastric cancer
Urszula Teodorczyk, Cezary Cybulski, Anna Jakubowska, Teresa Starzyńska, Małgorzata Ławniczak, Katarzyna Ferenc, Krzysztof Marlicz, Zbigniew Banaszkiewicz, Rafał Wiśniowski, Jan Lubiński Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A10 (12 January 2012)
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139
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Drug therapy for hereditary cancers
Evgeny N Imyanitov, Vladimir M Moiseyenko Hereditary Cancer in Clinical Practice 2011, 9:5 (6 August 2011)
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135
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Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management
Dewkoemar Ramsoekh, Anja Wagner, Monique E van Leerdam, Dennis Dooijes, Carli MJ Tops, Ewout W Steyerberg, Ernst J Kuipers Hereditary Cancer in Clinical Practice 2009, 7:17 (23 December 2009)
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132
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Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation
Riad Akoum, Albert Ghaoui, Emile Brihi, Maroun Ghabash, Nicolas Hajjar Hereditary Cancer in Clinical Practice 2009, 7:10 (28 May 2009)
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133
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Screening for ovarian cancer in women with varying levels of risk, using annual tests, results in high recall for repeat screening tests
Marielle AE Nobbenhuis, Elizabeth Bancroft, Eleanor Moskovic, Fiona Lennard, Paul Pharoah, Ian Jacobs, Ann Ward, Desmond PJ Barton, Thomas EJ Ind, John H Shepherd, Jane E Bridges, Martin Gore, Chris Haracopos, Susan Shanley, Audrey Ardern-Jones, Sarah Thomas, Ros Eeles Hereditary Cancer in Clinical Practice 2011, 9:11 (23 November 2011)
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121
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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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120
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Identification of patients at high risk of negative psychological consequences associated with BRCA1 mutation
S Ertmański, K Metcalfe, J Trempała, M Głowacka, J Lubiński, S Narod, J Gronwald Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A14 (12 January 2012)
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119
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Gene Expression Profiling of Xeroderma Pigmentosum
Nikola A Bowden, Paul A Tooney, Rodney J Scott Hereditary Cancer in Clinical Practice 2006, 4:103-110 (15 May 2006)
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118
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MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
Bente A Talseth-Palmer, Mary McPhillips, Claire Groombridge, Allan Spigelman, Rodney J Scott Hereditary Cancer in Clinical Practice 2010, 8:5 (21 May 2010)
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Editor’s summary
The Australian authors identified 26 different MSH6 and 4 different PMS2 mutations in 35 Lynch syndrome families studied. For MSH6 mutation carriers, the estimated cumulative risk of CRC at age 70 years was 61% (similar in males and females) and 65% for endometrial cancer. The risk of developing CRC was found to be different between males and females at age 50 years: 34% for males and 21% for females.
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14.
114
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Prospective observation of breast/ovarian cancer risk in BRCA1 carriers depending on serum selenium level optimized with diet
J Lubiński, T Huzarski, A Jakubowska, J Gronwald, K Jaworska, M Muszyńska, G Sukiennicki, K Durda, C Cybulski, T Dębniak, A Tołoczko, O Oszurek, P Serrano-Fernandez, R Scott, S Narod Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A11 (12 January 2012)
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113
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Fast diagnostic test for the identification of an increased genetic predisposition to colon cancer (exemplified on a DNA test for recurrent mutations of the gene MMR)
G Kurzawski, D Dymerska, J Suchy, T Dębniak, J Lubiński Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A13 (12 January 2012)
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110
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DNA testing for high risk of prostate cancer
Dominika Wokołorczyk Hereditary Cancer in Clinical Practice 2012, 10(Suppl 1):A12 (12 January 2012)
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103
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Familial paragangliomas
CJM Lips, EGWM Lentjes, JWM Höppener, RB Luijt, FL Moll Hereditary Cancer in Clinical Practice 2006, 4:169-176 (15 October 2006)
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100
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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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99
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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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93
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Hyperplastic polyposis syndrome: a call for broader diagnostic criteria
Matthew F Kalady, Awad M Jarrar, Lisa LaGuardia, Margaret O'Malley, James M Church Hereditary Cancer in Clinical Practice 2010, 8(Suppl 1):P8 (25 May 2010)
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91
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Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
Rolf H Sijmons Hereditary Cancer in Clinical Practice 2008, 6:22-57 (15 March 2008)
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91
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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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88
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Breast cancer therapy for BRCA1 carriers: moving towards platinum standard?
Evgeny N Imyanitov Hereditary Cancer in Clinical Practice 2009, 7:8 (20 April 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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86
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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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85
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Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece
Chrissovaladis Koumpis, Constantine Dimitrakakis, Aris Antsaklis, Robert Royer, Shiyu Zhang, Steven A Narod, Joanne Kotsopoulos Hereditary Cancer in Clinical Practice 2011, 9:10 (15 November 2011)
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