OBJECTIVES: Our purpose was to determine the prevalence of BRCA1 and BRCA2 germline mutations among patients from ovarian cancer families and to evaluate age at diagnosis, histologic diagnosis, and International Federation of Gynecology and Obstetrics stage in this group. STUDY DESIGN: We reviewed 50 ovarian cancer patients from 30 ovarian cancer families and compared relevant clinical characteristics with those of a cancer registry reference group. BRCA1 (exons 2 to 24) and BRCA2 (exon 11) germline mutations were detected by a protein truncation test and sequencing of BRCA1 exon 2 (185delAG mutation) in 25 of the 30 families. RESULTS: Ten (40%) of 25 families tested revealed a germline BRCA1 or BRCA2 mutation. Patients with ovarian cancer from the study group were young with an advanced International Federation of Gynecology and Obstetrics stage at diagnosis and had a relatively high frequency of serous adenocarcinoma. CONCLUSION: Direct mutation analysis of BRCA1 and BRCA2 revealed a high frequency of germline mutations in ovarian cancer families. Some clinical characteristics of hereditary ovarian cancer may differ from those of sporadic disease.
OBJECTIVES: Our purpose was to determine the prevalence of BRCA1 and BRCA2 germline mutations among patients from ovarian cancer families and to evaluate age at diagnosis, histologic diagnosis, and International Federation of Gynecology and Obstetrics stage in this group. STUDY DESIGN: We reviewed 50 ovarian cancerpatients from 30 ovarian cancer families and compared relevant clinical characteristics with those of a cancer registry reference group. BRCA1 (exons 2 to 24) and BRCA2 (exon 11) germline mutations were detected by a protein truncation test and sequencing of BRCA1 exon 2 (185delAG mutation) in 25 of the 30 families. RESULTS: Ten (40%) of 25 families tested revealed a germline BRCA1 or BRCA2 mutation. Patients with ovarian cancer from the study group were young with an advanced International Federation of Gynecology and Obstetrics stage at diagnosis and had a relatively high frequency of serous adenocarcinoma. CONCLUSION: Direct mutation analysis of BRCA1 and BRCA2 revealed a high frequency of germline mutations in ovarian cancer families. Some clinical characteristics of hereditary ovarian cancer may differ from those of sporadic disease.
Authors: R P Zweemer; P A Shaw; R M Verheijen; A Ryan; A Berchuck; B A Ponder; H Risch; J R McLaughlin; S A Narod; F H Menko; P Kenemans; I J Jacobs Journal: J Clin Pathol Date: 1999-05 Impact factor: 3.411
Authors: Jurgen M J Piek; Bas Torrenga; Brenda Hermsen; René H M Verheijen; Ronald P Zweemer; Johan J P Gille; Peter Kenemans; Paul J van Diest; Fred H Menko Journal: Fam Cancer Date: 2003 Impact factor: 2.375
Authors: A P M Jongsma; J M J Piek; R P Zweemer; R H M Verheijen; J W T Klein Gebbinck; G J van Kamp; I J Jacobs; P Shaw; P J van Diest; P Kenemans Journal: Mol Pathol Date: 2002-10