-associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms

Anna Jakubowska (1, 2) , Jacek Gronwald (1) , Janusz Menkiszak (1, 3) , Bohdan Górski (1) , Tomasz Huzarski (1) , Tomasz Byrski (1) , Aleksandra Tołoczko-Grabarek (1) , Michael Gilbert (2) , Lutz Edler (4) , Marc Zapatka (5) , Roland Eils (5) , Jan Lubiński (1) , Rodney J. Scott (6) , Ute Hamann (2)

1 PUM - Pomeranian Medical University [Szczecin]
2 German Cancer Research Center, Molecular Genetics of Breast Cancer, B055
3 Department of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents
4 German Cancer Research Center, Division of Biostatistics
5 Division of Theoretical Bioinformatics [Heidelberg]
6 Discipline of Medical Genetics, School of Biomedical Sciences

Polymorphisms in genes involved in DNA repair, steroid hormone biosynthesis/metabolism/signaling, folate metabolism as well as cell growth are prime candidates for possible associations with breast and ovarian cancer risk in women with an inherited predisposition. We investigated 29 polymorphisms in 20 genes encoding key proteins of the above four biological pathways for their breast and ovarian cancer risk modifying effect in Polish women harboring founder mutations. Of the analyzed genes, , , , and participate in DNA repair, in cell cycle check point control, , , , , , , and in steroid hormone biosynthesis/metabolism/signaling, in folate metabolism and , , , and affect cell growth. Using validated methods, we genotyped 319 breast cancer cases, 146 ovarian cancer cases and 290 unaffected controls, all of whom harbored one of three causative mutations in . Our results revealed no association of any of the investigated polymorphisms with -associated breast or ovarian cancer risk. Thus, it appears that these polymorphisms do not influence disease risk in Polish women carrying one of the three common founder mutations.

Mots clés: Breast cancer; Ovarian cancer; Polymorphism; Modifying gene

Anna Jakubowska, Jacek Gronwald, Janusz Menkiszak, Bohdan Górski, Tomasz Huzarski, et al.. -associated breast and ovarian cancer risks in Poland: no association with commonly studied polymorphisms. Breast Cancer Research and Treatment, 2009, 119 (1), pp.201-211. ⟨10.1007/s10549-009-0390-5⟩. ⟨hal-00535356⟩