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2009 | 81 | 10 | 474-477

Article title

Hereditary Breast Cancer and Hereditary Non-Polyposis Colorectal Cancer: Description of Two Families, as the Examples of Classical Hereditary Predisposition to Cancers


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The diagnosis of hereditary cancer syndromes is basing mainly on pedigree analysis and if possible on molecular studies. We present 2 families which were diagnosed with hereditary cancer syndromes. Family I - breast cancer syndrome; 9 breast cancer cases were diagnosed in women between 25 and 45-year-of-age from 4 generations. The BRCA1 5382insC mutation was found in family members. Family II - hereditary nonpolyposis colon cancer; altogether 17 cancers in 12 persons from 6 generations were diagnosed. The c. 256 C>T mutation in MLH1 gene was found in family members. Thus, written family genetic counselings were prepared for both families, including detail information concerning cancer risk for carriers and non-carriers of critical mutation in given family. In conclusion it was stated that an effective prevention dedicated to patients at high, hereditary risk of cancer could be achieved by early diagnosis and thus by highly targeted surveillance and managements.








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1 - 10 - 2009
25 - 11 - 2009


  • Department of Genetics, Medical University, Wrocław
  • Department of Genetics, Medical University, Wrocław
  • Department of Genetics, Medical University, Wrocław


  • Contegiacomo A, Pensabene M, Capuano I et al.: Italian Network on Hereditary Breast Cancer. An oncologist-based model of cancer genetic counselling for hereditary breast and ovarian cancer. Ann Oncol 2004; 15(5): 726-32.[Crossref][WoS][PubMed]
  • Tan DS, Marchiò C, Reis-Filho JS: Hereditary breast cancer: from molecular pathology to tailored therapies. J Clin Pathol 2008; 61(10): 1073-82.[PubMed][Crossref]
  • Hampel H, Frankel WL, Martin E et al.: Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352(18): 1851-60.[Crossref]
  • Hemminki K, Eng C: Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans. J Med Genet 2004; 41: 801-07.[PubMed][Crossref]
  • Olopade OI, Pichert G: Cancer genetics in oncology practice. Ann Oncol 2001; 12: 895-908.[PubMed][Crossref]
  • Lynch HT, Silva E, Snyder C et al.: Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Breast J 2008; 14(1): 3-13.[Crossref][WoS][PubMed]
  • Larsson N, Borg A, Hodgson S et al.: EMQN Best Practice Guidelines for Molecular Genetic Analysis in Hereditary Breast/Ovarian Cancer
  • EGAPP. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med 2009; 11: 35-41.[WoS]
  • Garber JE, Offit K: Hereditary cancer predisposition syndromes. J Clin Oncol 2005; 23: 276-92.[Crossref][PubMed]
  • Lynch HT, Lynch JF, Lynch FM et al.: Hereditary colorectal cancer syndromes: molecular genetics, genetic counselling, diagnosis and management. Fam Cancer 2008; 7: 27-39.[PubMed][Crossref]
  • Narod SA, Foulkes WD: BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004; 4: 665-76.
  • Vasen HF, Möslein G, Alonso A et al.: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007; 44: 353-62.[Crossref][PubMed]
  • Palomaki GE, McClain MR, Melillo S et al.: EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med 2009; 11(1): 42-65.[Crossref][WoS][PubMed]

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