Clinical and genetic evaluation of thirty ovarian cancer families

R P Zweemer, R H Verheijen, J J Gille, P J van Diest, G Pals, F H Menko

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)85-90
Number of pages6
JournalAmerican Journal of Obstetrics and Gynecology
Volume178
Issue number1 Pt 1
Publication statusPublished - Jan 1998

Cite this

Zweemer, R. P., Verheijen, R. H., Gille, J. J., van Diest, P. J., Pals, G., & Menko, F. H. (1998). Clinical and genetic evaluation of thirty ovarian cancer families. American Journal of Obstetrics and Gynecology, 178(1 Pt 1), 85-90.
Zweemer, R P ; Verheijen, R H ; Gille, J J ; van Diest, P J ; Pals, G ; Menko, F H. / Clinical and genetic evaluation of thirty ovarian cancer families. In: American Journal of Obstetrics and Gynecology. 1998 ; Vol. 178, No. 1 Pt 1. pp. 85-90.
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Zweemer, RP, Verheijen, RH, Gille, JJ, van Diest, PJ, Pals, G & Menko, FH 1998, 'Clinical and genetic evaluation of thirty ovarian cancer families' American Journal of Obstetrics and Gynecology, vol. 178, no. 1 Pt 1, pp. 85-90.

Clinical and genetic evaluation of thirty ovarian cancer families. / Zweemer, R P; Verheijen, R H; Gille, J J; van Diest, P J; Pals, G; Menko, F H.

In: American Journal of Obstetrics and Gynecology, Vol. 178, No. 1 Pt 1, 01.1998, p. 85-90.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Clinical and genetic evaluation of thirty ovarian cancer families

AU - Zweemer, R P

AU - Verheijen, R H

AU - Gille, J J

AU - van Diest, P J

AU - Pals, G

AU - Menko, F H

PY - 1998/1

Y1 - 1998/1

N2 - 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.

AB - 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.

KW - Adenocarcinoma/epidemiology

KW - Alleles

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 13

KW - Chromosomes, Human, Pair 17

KW - Cluster Analysis

KW - DNA Mutational Analysis

KW - DNA Primers/analysis

KW - DNA, Neoplasm/analysis

KW - Exons/genetics

KW - Family Health

KW - Female

KW - Germ-Line Mutation/genetics

KW - Humans

KW - Male

KW - Middle Aged

KW - Neoplasm Staging

KW - Ovarian Neoplasms/epidemiology

KW - Pedigree

KW - Prevalence

M3 - Article

VL - 178

SP - 85

EP - 90

JO - American Journal of Obstetrics and Gynecology

JF - American Journal of Obstetrics and Gynecology

SN - 0002-9378

IS - 1 Pt 1

ER -

Zweemer RP, Verheijen RH, Gille JJ, van Diest PJ, Pals G, Menko FH. Clinical and genetic evaluation of thirty ovarian cancer families. American Journal of Obstetrics and Gynecology. 1998 Jan;178(1 Pt 1):85-90.