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  1. In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI) testing due to an ...

    Authors: Aparna Mukherjee, Thomas J McGarrity, Francesca Ruggiero, Walter Koltun, Kevin McKenna, Lisa Poritz and Maria J Baker

    Citation: Hereditary Cancer in Clinical Practice 2010 8:9

    Content type: Research

    Published on:

  2. The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test...

    Authors: Andrejs Vanags, Ilze Štrumfa, Andris Gardovskis, Viktors Borošenko, Arnis Āboliņš, Uldis Teibe, Genadijs Trofimovičs, Edvīns Miklaševičs and Jānis Gardovskis

    Citation: Hereditary Cancer in Clinical Practice 2010 8:8

    Content type: Research

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  3. An unclassified variant (UV) in exon 1 of the MLH1 gene, c.112A > C, p.Asn38His, was found in six families who meet diagnostic criteria for Lynch syndrome. The pathogenicity of this variant was unknown. We aim to...

    Authors: 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 and Johan JP Gille

    Citation: Hereditary Cancer in Clinical Practice 2010 8:7

    Content type: Research

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  4. Cancer risk and Lhermitte-Duclos disease (LDD) risk estimates for Cowden syndrome (CS) are broad and based on a small number of patients. Risk estimates are vital to the development of diagnostic criteria, gen...

    Authors: Douglas L Riegert-Johnson, Ferga C Gleeson, Maegan Roberts, Krysta Tholen, Lauren Youngborg, Melvin Bullock and Lisa A Boardman

    Citation: Hereditary Cancer in Clinical Practice 2010 8:6

    Content type: Research

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  5. Authors: John Burn, John C Mathers, Anne-Marie Gerdes, MarieLuise Bisgaard, Gareth Evans, Diana Eccles, Annika Lindblom, Findlay Macrae, Eamonn R Maher, Jukka-Pekka Mecklin, Gabriela Moslein, Sylviane Olschwang, Raj Ramesar, Hans FA Vasen, Juul Wijnen, Gail Barker…

    Citation: Hereditary Cancer in Clinical Practice 2010 8(Suppl 1):O5

    Content type: Oral presentation

    Published on:

    This article is part of a Supplement: Volume 8 Supplement 1

  6. Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutations in MSH6 as in famili...

    Authors: Bente A Talseth-Palmer, Mary McPhillips, Claire Groombridge, Allan Spigelman and Rodney J Scott

    Citation: Hereditary Cancer in Clinical Practice 2010 8:5

    Content type: Research

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  7. The aim of this study was to identify BRCA1 and BRCA2 mutations in the Estonian population. We analyzed genetic data and questionnaire from 64 early-onset (< 45 y) breast cancer patients, 47 familial cases (pa...

    Authors: Kristiina Tamboom, Krista Kaasik, Jelena Aršavskaja, Mare Tekkel, Aili Lilleorg, Peeter Padrik, Andres Metspalu and Toomas Veidebaum

    Citation: Hereditary Cancer in Clinical Practice 2010 8:4

    Content type: Research

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  8. Familial adenomatous polyposis (FAP) is a hereditary disorder characterized by polyposis along the gastrointestinal tract. Information on adenoma status below the duodenum has previously been restricted due to...

    Authors: Paul Tescher, Finlay A Macrae, Tony Speer, Damien Stella, Robert Gibson, Jason A Tye-Din, Geeta Srivatsa, Ian T Jones and Kaye Marion

    Citation: Hereditary Cancer in Clinical Practice 2010 8:3

    Content type: Research

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  9. Penetrances of BRCA1 and BRCA2 mutations have been derived from retrospective studies, implying the possibility of ascertainment biases to influence the results.

    Authors: Pål Møller, Lovise Mæhle, Lars F Engebretsen, Trond Ludvigsen, Christoffer Jonsrud, Jaran Apold, Anita Vabø and Neal Clark

    Citation: Hereditary Cancer in Clinical Practice 2010 8:2

    Content type: Research

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  10. Women from families with a high risk of breast or ovarian cancer in which genetic testing for mutations in the BRCA1/2 genes is inconclusive are a vulnerable and understudied group. Furthermore, there are no stud...

    Authors: Audrey Ardern-Jones, Regina Kenen, Elly Lynch, Rebecca Doherty and Rosalind Eeles

    Citation: Hereditary Cancer in Clinical Practice 2010 8:1

    Content type: Research

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  11. Lynch syndrome (LS) is associated with a high risk for colorectal cancer (CRC) and extracolonic malignancies, such as endometrial carcinoma (EC). The risk is dependent of the affected mismatch repair gene. The...

    Authors: Dewkoemar Ramsoekh, Anja Wagner, Monique E van Leerdam, Dennis Dooijes, Carli MJ Tops, Ewout W Steyerberg and Ernst J Kuipers

    Citation: Hereditary Cancer in Clinical Practice 2009 7:17

    Content type: Research

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  12. Accurate risk (penetrance) estimates for associated phenotypes in carriers of a major disease gene are important for genetic counselling of at-risk individuals. Population-specific estimates of penetrance are ...

    Authors: Karen A Kopciuk, Yun-Hee Choi, Elena Parkhomenko, Patrick Parfrey, John McLaughlin, Jane Green and Laurent Briollais

    Citation: Hereditary Cancer in Clinical Practice 2009 7:16

    Content type: Research

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  13. Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic ...

    Authors: Johanna Rantala, Ulla Platten, Gunilla Lindgren, Bo Nilsson, Brita Arver, Annika Lindblom and Yvonne Brandberg

    Citation: Hereditary Cancer in Clinical Practice 2009 7:15

    Content type: Research

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  14. Several DNA mismatch repair (MMR) genes, responsible for the majority of Lynch Syndrome cancers, have been identified, predominantly MLH1 and MSH2, but the risk associated with these mutations is still not well e...

    Authors: Yun-Hee Choi, Michelle Cotterchio, Gail McKeown-Eyssen, Monga Neerav, Bharati Bapat, Kevin Boyd, Steven Gallinger, John McLaughlin, Melyssa Aronson and Laurent Briollais

    Citation: Hereditary Cancer in Clinical Practice 2009 7:14

    Content type: Research

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  15. Hereditary cancers account for 5–10% of cancers. In this study BRCA1, BRCA2 and CHEK2*(1100delC) were analyzed for mutations in 91 HBOC/HBC/HOC families and early onset breast and early onset ovarian cancer cases...

    Authors: Nagasamy Soumittra, Balaiah Meenakumari, Tithi Parija, Veluswami Sridevi, Karunakaran N Nancy, Rajaraman Swaminathan, Kamalalayam R Rajalekshmy, Urmila Majhi and Thangarajan Rajkumar

    Citation: Hereditary Cancer in Clinical Practice 2009 7:13

    Content type: Research

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  16. Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Synd...

    Authors: 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 and Susan Shanley

    Citation: Hereditary Cancer in Clinical Practice 2009 7:12

    Content type: Case report

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  17. The lifetime testicular cancer (TC) risk in the general population is relatively low (~1 in 250), but men with a family history of TC are at 4 to 9 times greater risk than those without. Some health and profes...

    Authors: Susan T Vadaparampil, Richard P Moser, Jennifer Loud, June A Peters, Mark H Greene and Larissa Korde

    Citation: Hereditary Cancer in Clinical Practice 2009 7:11

    Content type: Research

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  18. Effective chemoprevention strategies exist for women at high risk for breast cancer, yet uptake is low. Physician recommendation is an important determinant of uptake, but little is known about clinicians' att...

    Authors: Louise A Keogh, John L Hopper, Doreen Rosenthal and Kelly-Anne Phillips

    Citation: Hereditary Cancer in Clinical Practice 2009 7:9

    Content type: Research

    Published on:

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