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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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  20. Authors: Jacek Gronwald, Tomasz Byrski, Tomasz Huzarski, Oleg Oszurek, Anna Janicka, Jolanta Szymańska-Pasternak, Bohdan Górski, Janusz Menkiszak, Izabella Rzepka-Górska and Jan Lubiński
    Citation: Hereditary Cancer in Clinical Practice 2008 6:88
  21. Authors: Sandra Costa and Fernando C Schmitt
    Citation: Hereditary Cancer in Clinical Practice 2008 6:64
  22. Lynch syndrome (HNPCC) is a dominantly inherited disorder characterized by germline defects in DNA mismatch repair (MMR) genes and the development of a variety of cancers, predominantly colorectal and endometr...

    Authors: Rein P. Stulp, Johanna C. Herkert, Arend Karrenbeld, Bart Mol, Yvonne J. Vos and Rolf H. Sijmons
    Citation: Hereditary Cancer in Clinical Practice 2008 6:15
  23. In this paper we review clinical and genetic aspects of testicular germ cell tumours (TGCTs). TGCT is the most common type of malignant disorder in men aged 15-40 years. Its incidence has increased sharply in ...

    Authors: Martijn F. Lutke Holzik, Rolf H. Sijmons, Josette E.H.M. Hoekstra-Weebers, Dirk T. Sleijfer and Harald J. Hoekstra
    Citation: Hereditary Cancer in Clinical Practice 2008 6:3
  24. Little is known about the aetiology of chronic lymphocytic leukaemia (CLL). The family medical history is a "genomic tool" capturing interactions of genetic susceptibility, shared environment and common behavi...

    Authors: Walter Weber, Patrick F. Maurer, Jacqueline Estoppey and Marcel Zwahlen
    Citation: Hereditary Cancer in Clinical Practice 2007 5:210
  25. The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused b...

    Authors: Andrzej Pławski, Marta Podralska and Ryszard Słomski
    Citation: Hereditary Cancer in Clinical Practice 2007 5:195

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