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  1. 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

    Published on:

  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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

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  14. Several studies of survival in women with BRCA1 mutations have shown either reduced survival or no difference compared to controls. Programmes for early detection and treatment of inherited breast cancer, have fa...

    Authors: Anne Irene Hagen, Steinar Tretli, Lovise Mæhle, Jaran Apold, Nina Vedå and Pål Møller

    Citation: Hereditary Cancer in Clinical Practice 2009 7:7

    Content type: Research

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  15. Women at increased (genetic) risk of breast cancer have to weigh the personal pros and cons of prophylactic mastectomy (PM) as an option to reduce their cancer risk. So far, no routine referral to a psychologi...

    Authors: 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 and Caroline Seynaeve

    Citation: Hereditary Cancer in Clinical Practice 2009 7:6

    Content type: Research

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  16. A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients ...

    Authors: Evgeny N Suspitsin, Nathalia Yu 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 Yu Krylova, Dmitry E Matsko, Sergey Ya Maximov, Adel F Urmancheyeva…

    Citation: Hereditary Cancer in Clinical Practice 2009 7:5

    Content type: Research

    Published on:

  17. CHEK2 has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular CHEK2 germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The preval...

    Authors: Marielle WG Ruijs, Annegien Broeks, Fred H Menko, Margreet GEM Ausems, Anja Wagner, Rogier Oldenburg, Hanne Meijers-Heijboer, Laura J van't Veer and Senno Verhoef

    Citation: Hereditary Cancer in Clinical Practice 2009 7:4

    Content type: Research

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  18. Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant inherited predisposition to a number of epithelial cancers, most notably colorectal and endometrial ca...

    Authors: Katie A Ashton, Anthony Proietto, Geoffrey Otton, Ian Symonds and Rodney J Scott

    Citation: Hereditary Cancer in Clinical Practice 2009 7:3

    Content type: Research

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  19. Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian canc...

    Authors: 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…

    Citation: Hereditary Cancer in Clinical Practice 2009 7:2

    Content type: Case report

    Published on:

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