analysis in -like families

M. A. Adank (1) , S. E. Mil (1) , J. J. P. Gille (1) , Q. Waisfisz (1) , H. Meijers-Heijboer (1)

1 Department of Clinical Genetics

BRCA2 and PALB2 function together in the Fanconi anemia (FA)-Breast Cancer (BRCA) pathway. Mono-allelic and bi-allelic and mutation carriers share many clinical characteristics. Mono-allelic germline mutations of and are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia. In view of these similarities, we investigated whether the prevalence of mutations was increased in breast cancer families with the occurrence of associated tumours other than female breast cancer. mutation analysis was performed in 110 non- cancer patients: (a) 53 ovarian cancer patients from female breast-and/or ovarian cancer families; (b) 45 breast cancer patients with a first or second degree relative with pancreatic cancer; and (c) 12 male breast cancer patients from female breast cancer families. One truncating mutation c.509_510delGA, resulting in p.Arg170X, was found in a male breast cancer patient. We conclude that germline mutations of do not significantly contribute to cancer risk in non- cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer.

Mots clés: Breast cancer; Fanconi anemia; Ovarian cancer; Pancreatic cancer

M. A. Adank, S. E. Mil, J. J. P. Gille, Q. Waisfisz, H. Meijers-Heijboer. analysis in -like families. Breast Cancer Research and Treatment, 2010, 127 (2), pp.357-362. ⟨10.1007/s10549-010-1001-1⟩. ⟨hal-00594463⟩