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  1. 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
  2. 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
  3. 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
  4. 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
  5. The correction of exogenous and endogenous environmental insult to DNA involves a series of DNA repair mechanisms that reduce the likelihood of mutation accumulation and hence an increased probability of tumou...

    Authors: Carla Kairupan and Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2007 5:199
  6. 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 PÅ‚awski, Marta Podralska and Ryszard SÅ‚omski
    Citation: Hereditary Cancer in Clinical Practice 2007 5:195
  7. Hereditary diffuse gastric cancer (HDGC) is the only known predisposition syndrome dominated by carcinoma of the stomach and with a recognised genetic cause. Germline mutations in the E-cadherin gene (CDH1) co-se...

    Authors: Parry Guilford, Vanessa Blair, Helen More and Bostjan Humar
    Citation: Hereditary Cancer in Clinical Practice 2007 5:183
  8. Men who carry mutations in BRCA1 or BRCA2 are at increased risk for prostate cancer. However the efficacy of prostate screening in this setting is uncertain and limited data exists on the uptake of prostate scree...

    Authors: Joanne M McKinley, Prue C Weideman, Mark A Jenkins, Michael L Friedlander, John L Hopper, Sue-Anne McLachlan, Geoffrey J Lindeman, kConFab Investigators and Kelly-Anne Phillips
    Citation: Hereditary Cancer in Clinical Practice 2007 5:161
  9. To conduct a pilot population-based study within a general practice catchment area to determine whether the incidence of breast cancer was increased in the Ashkenazi population.

    Authors: Michelle Ferris, Douglas F Easton, Rebecca J Doherty, Brian HJ Briggs, Michelle Newman, Ifthikhar M Saraf, Sarah Scambler, Lyndon Wagman, Michael T Wyndham, Ann Ward and Rosalind A Eeles
    Citation: Hereditary Cancer in Clinical Practice 2007 5:157
  10. BRCA1 and BRCA2 germ-line mutations occur in a significant number of unselected ovarian cancer (OC) patients, thus making a noticeable contribution to OC morbidity. It is of interest whether CHEK2, which is frequ...

    Authors: Nadezhda Yu Krylova, Daria N Ponomariova, Natalia Yu Sherina, Natalia Yu Ogorodnikova, Denis A Logvinov, Natalia V Porhanova, Oksana S Lobeiko, Adel F Urmancheyeva, Sergey Ya Maximov, Alexandr V Togo, Evgeny N Suspitsin and Evgeny N Imyanitov
    Citation: Hereditary Cancer in Clinical Practice 2007 5:153
  11. Based on epidemiological data we can assume that at least some malignant melanoma (MM) and breast cancer cases can be caused by the same genetic factors. CDKN2A, which encodes the p16 protein, a cyclin-dependent ...

    Authors: Tadeusz Dębniak
    Citation: Hereditary Cancer in Clinical Practice 2007 5:97
  12. Multiple myeloma (MM) is a relatively rare haematological malignancy seen in older persons. It has an unknown aetiology and usually occurs incidentally within a family. However, several families have been repo...

    Authors: Erica H Gerkes, Mirjam M de Jong, Rolf H Sijmons and Edo Vellenga
    Citation: Hereditary Cancer in Clinical Practice 2007 5:72
  13. Modifying factors might theoretically determine whether a BRCA1 mutation carrier contracts breast or ovarian cancer. If so, one would expect concordance for breast or ovarian cancer in affected sibships. We ident...

    Authors: Pål Møller, Lovise Mæhle, Neal Clark and Jaran Apold
    Citation: Hereditary Cancer in Clinical Practice 2007 5:67
  14. This study examined: (1) levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC); (2) associations between sociodemographic, clinic...

    Authors: Eveline MA Bleiker, Fred H Menko, Irma Kluijt, Babs G Taal, Miranda A Gerritsma, Lidwina DV Wever and Neil K Aaronson
    Citation: Hereditary Cancer in Clinical Practice 2007 5:59
  15. Polymorphisms in the ARLTS1 gene, a member of the Ras super-family, have been associated with susceptibility in different cancer types. The involvement of the gene in apoptotic signalling motivated us to study...

    Authors: Xuchen Li, Andreas Gast, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Kari Hemminki and Rajiv Kumar
    Citation: Hereditary Cancer in Clinical Practice 2007 5:25
  16. Among Swedish families with an inherited predisposition for breast cancer, less than one third segregate mutations in genes known to be associated with an increased risk of breast cancer in combination with ot...

    Authors: Anna von Wachenfeldt, Annika Lindblom, Henrik Grönberg, Zakaria Einbeigi, Richard Rosenquist, Camilla Gardman and Lennart Iselius
    Citation: Hereditary Cancer in Clinical Practice 2007 5:17
  17. This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families....

    Authors: Grzegorz Kurzawski
    Citation: Hereditary Cancer in Clinical Practice 2006 4:197
  18. The Swedish Family-Cancer Database has been used for some 10 years in the study of familial risks at all common sites. In the present paper we describe some of the main features of version VII of this Database...

    Authors: Kari Hemminki, Charlotta Granström, Jan Sundquist and Justo Lorenzo Bermejo
    Citation: Hereditary Cancer in Clinical Practice 2006 4:186
  19. Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden sy...

    Authors: Cecilie F Rustad, Merete Bjørnslett, Ketil R Heimdal, Lovise Mæhle, Jaran Apold and Pål Møller
    Citation: Hereditary Cancer in Clinical Practice 2006 4:177
  20. Molecular diagnostics of hereditary breast and/or ovarian cancer is mainly based on detection of BRCA1 and BRCA2 germline mutations in suspected families. The aim of the study was to determine the frequency, age ...

    Authors: Sona Ciernikova, Miroslav Tomka, Michal Kovac, Viola Stevurkova and Vladimir Zajac
    Citation: Hereditary Cancer in Clinical Practice 2006 4:7
  21. Whereas HER2 amplification is a well-known phenomenon in breast tumours, its frequency and clinical importance in ovarian cancer have not been established. The aim of the study was to compare the frequency of HER...

    Authors: Izabela Brożek, Iwona Kardaś, Karolina Ochman, Jarosław Dębniak, Maciej Stukan, Magdalena Ratajska, Lucyna Morzuch, Janusz Emerich and Janusz Limon
    Citation: Hereditary Cancer in Clinical Practice 2006 4:39
  22. The majority of hereditary breast and ovarian cancers can be accounted for by germline mutations in the BRCA1 and BRCA2 genes. Genetic counselling and testing in high-risk patients in the Czech Republic began ...

    Authors: Lenka Foretova, Katarina Petrakova, Marketa Palacova, Renata Kalabova, Marie Navratilova, Miroslava Lukesova, Petra Vasickova, Eva Machackova, Zdenek Kleibl and Petr Pohlreich
    Citation: Hereditary Cancer in Clinical Practice 2006 4:3
  23. Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related t...

    Authors: CJM Lips, EGWM Lentjes, JWM Höppener, RB van der Luijt and FL Moll
    Citation: Hereditary Cancer in Clinical Practice 2006 4:169
  24. The BRCA1 4153delA allele is frequently referred to as the Russian founder mutation, as it was initially detected in several cancer families from Moscow. Our earlier studies have demonstrated 1% occurrence of ...

    Authors: Nadezhda Yu Krylova, Oksana S Lobeiko, Anna P Sokolenko, Aglaya G Iyevleva, Maxim E Rozanov, Natalia V Mitiushkina, Madina M Gergova, Tatiana V Porhanova, Adel F Urmancheyeva, Sergey Ya Maximov, Alexandr V Togo and Evgeny N Imyanitov
    Citation: Hereditary Cancer in Clinical Practice 2006 4:193

    The Erratum to this article has been published in Hereditary Cancer in Clinical Practice 2007 5:56

  25. This study was undertaken to determine: 1) Type and prevalence of founder mutations BRCA1 and BRCA2 genes in Polish families with strong aggregation of breast and/or ovarian cancer. 2) Risk of breast and/or ovari...

    Authors: Bohdan Górski
    Citation: Hereditary Cancer in Clinical Practice 2006 4:142
  26. A family is reported in which three male siblings of Asian descent developed non-Hodgkin's lymphoma (NHL). Case 1 was diagnosed with indolent follicular lymphoma stage IIIA at age 45. Case 2 presented with lar...

    Authors: Sandra S.C.M. Loves, Lieuwe de Haan and Simon M.G.J. Daenen
    Citation: Hereditary Cancer in Clinical Practice 2006 4:136
  27. MTC is a rare neuroendocrine thyroid tumour accounting for 3% to 10% of all thyroid malignancies. It can occur in a sporadic and a hereditary clinical setting. Hereditary MTC may either occur alone (familial M...

    Authors: Jan Willem de Groot, Thera P. Links, Robert M.W. Hofstra and John T.M. Plukker
    Citation: Hereditary Cancer in Clinical Practice 2006 4:115
  28. Xeroderma pigmentosum (XP) is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and (6-4) p...

    Authors: Nikola A. Bowden, Paul A. Tooney and Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2006 4:103
  29. Catechol-O-methyltransferase (COMT) is vital for the conjugation of catechol estrogens that are produced during oestrogen metabolism. The efficiency of this process varies due to a polymorphism in COMT, which ...

    Authors: Katie A. Ashton, Cliff J. Meldrum, Mary L. McPhillips, Janina Suchy, Grzegorz Kurzawski, Jan Lubinski and Rodney J. Scott
    Citation: Hereditary Cancer in Clinical Practice 2006 4:94
  30. Recently, carriers of biallelic mutations in the base excision repair gene MUTYH, have been demonstrated to have a predisposition for multiple adenomas and colorectal cancer. Still, many questions remain unanswer...

    Authors: Astrid Stormorken, Karen-Marie Heintz, Per Arne Andresen, Eivind Hovig and Pål Møller
    Citation: Hereditary Cancer in Clinical Practice 2006 4:90
  31. Childhood adrenocortical tumour (ACT) is not a common disease, but in southern Brazil the prevalence is 15 times higher than in other parts of the world. One hundred and thirty-seven patients have been identif...

    Authors: Rosana Marques-Pereira, Luiz DeLacerda, Hadriano M Lacerda, Edson Michalkiewicz, Fabiano Sandrini and Romolo Sandrini
    Citation: Hereditary Cancer in Clinical Practice 2006 4:81
  32. Global analysis of gene expression by DNA microarrays is nowadays a widely used tool, especially relevant for cancer research. It helps the understanding of complex biology of cancer tissue, allows identificat...

    Authors: Volha Dudaladava, Michał Jarząb, Ewa Stobiecka, Ewa Chmielik, Krzysztof Simek, Tomasz Huzarski, Jan Lubiński, Jolanta Pamuła, Wioletta Pękala, Ewa Grzybowska and Katarzyna Lisowska
    Citation: Hereditary Cancer in Clinical Practice 2006 4:28

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