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1.
6112 Accesses
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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)
Abstract | Full text | PDF | PubMed
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2.
4434 Accesses
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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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3.
4082 Accesses
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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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4.
4026 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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5.
3930 Accesses
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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)
Abstract | Full text | PDF | PubMed
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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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6.
3834 Accesses
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Risk perception after genetic counseling in patients with increased risk of cancer
Johanna Rantala, Ulla Platten, Gunilla Lindgren, Bo Nilsson, Brita Arver, Annika Lindblom, Yvonne Brandberg Hereditary Cancer in Clinical Practice 2009, 7:15 (23 August 2009)
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Editor’s summary
Risk counseling for patients with increased cancer risk is an integral part of genetic counseling, and research has shown patients have a more accurate perception of risk after counseling.
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7.
3561 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)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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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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8.
3245 Accesses
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Survival in Norwegian BRCA1 mutation carriers with breast cancer
Anne Hagen, Steinar Tretli, Lovise Mæhle, Jaran Apold, Nina Vedå, Pål Møller Hereditary Cancer in Clinical Practice 2009, 7:7 (14 April 2009)
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9.
3201 Accesses
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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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10.
3165 Accesses
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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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11.
3049 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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12.
3015 Accesses
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Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing
Anna P Sokolenko, Dmitry A Voskresenskiy, Aglaya G Iyevleva, Elena M Bit-Sava, Nadezhda I Gutkina, Maxim S Anisimenko, Nathalia Yu Sherina, Nathalia V Mitiushkina, Yulia M Ulibina, Olga S Yatsuk, Olga A Zaitseva, Evgeny N Suspitsin, Alexandr V Togo, Valery A Pospelov, Sergey P Kovalenko, Vladimir F Semiglazov, Evgeny N Imyanitov Hereditary Cancer in Clinical Practice 2009, 7:2 (26 January 2009)
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13.
2989 Accesses
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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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14.
2872 Accesses
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High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series
Pål Møller, Lovise Mæhle, Lars F Engebretsen, Trond Ludvigsen, Christoffer Jonsrud, Jaran Apold, Anita Vabø, Neal Clark Hereditary Cancer in Clinical Practice 2010, 8:2 (19 January 2010)
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15.
2846 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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16.
2704 Accesses
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Molecular genetics analysis of hereditary breast and ovarian cancer patients in India
Nagasamy Soumittra, Balaiah Meenakumari, Tithi Parija, Veluswami Sridevi, Karunakaran N Nancy, Rajaraman Swaminathan, Kamalalayam R Rajalekshmy, Urmila Majhi, Thangarajan Rajkumar Hereditary Cancer in Clinical Practice 2009, 7:13 (6 August 2009)
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17.
2581 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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18.
2525 Accesses
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Standard psychological consultations and follow up for women at increased risk of hereditary breast cancer considering prophylactic mastectomy
Murly BM Tan, Eveline MA Bleiker, Marian BE Menke-Pluymers, Arthur R Van Gool, Silvia van Dooren, Bert N Van Geel, Madeleine MA Tilanus-Linthorst, Karina CM Bartels, Jan GM Klijn, Cecile TM Brekelmans, Caroline Seynaeve Hereditary Cancer in Clinical Practice 2009, 7:6 (31 March 2009)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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19.
2445 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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20.
2427 Accesses
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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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21.
2390 Accesses
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A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
Els van Riel, Margreet GEM Ausems, Frans BL Hogervorst, Irma Kluijt, Marielle E van Gijn, Jeanne van Echtelt, Karen Scheidel-Jacobse, Eric FAM Hennekam, Rein P Stulp, Yvonne J Vos, G Johan A Offerhaus, Fred H Menko, Johan JP Gille Hereditary Cancer in Clinical Practice 2010, 8:7 (12 August 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
In this study, six Dutch families with Lynch syndrome sharing the c.112A>C, p.Asn38His MLH1 mutation were reported. The authors combined data from literature with family data like co-segregation of the MSI/IHC results and the MLH1 variant with disease, germline mutation analysis of all MMR genes, haplotype analysis, geneaology, and germline mutation testing of healthy controls. The authors conclude that c.112A>C is a pathogenic MLH1 founder mutation.
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22.
2317 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)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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23.
2130 Accesses
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Genetic variants in MUTYH are not associated with endometrial cancer risk
Katie A Ashton, Anthony Proietto, Geoffrey Otton, Ian Symonds, Rodney J Scott Hereditary Cancer in Clinical Practice 2009, 7:3 (26 January 2009)
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24.
2096 Accesses
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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
Marielle WG Ruijs, Annegien Broeks, Fred H Menko, Margreet GEM Ausems, Anja Wagner, Rogier Oldenburg, Hanne Meijers-Heijboer, Laura J van't Veer, Senno Verhoef Hereditary Cancer in Clinical Practice 2009, 7:4 (17 February 2009)
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25.
2092 Accesses
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The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program
Aparna Mukherjee, Thomas J McGarrity, Francesca Ruggiero, Walter Koltun, Kevin McKenna, Lisa Poritz, Maria J Baker Hereditary Cancer in Clinical Practice 2010, 8:9 (22 November 2010)
Abstract | Full text | PDF | PubMed
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Editor’s summary
The utilization of the revised Bethesda guidelines to identify patients with Lynch syndrome was studied at a North-American university hospital. Several barriers in applying these criteria were revealed. The most important ones were limited family histories captured by health care providers, inconsistent reporting of MSI-H histology for colorectal cancer specimens by pathologists, and limited consultation for genetic counseling due to lack of insurance coverage.
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