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One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations : results of a prospective study in Southern Sweden

Malander, S LU ; Ridderheim, M LU ; Måsbäck, A LU ; Loman, N LU ; Kristoffersson, U LU ; Olsson, Håkan LU ; Nilbert, M LU and Borg, Åke LU (2004) In European Journal of Cancer 40(3). p.8-422
Abstract

At least 10% of all ovarian cancers are estimated to have a hereditary background. Hereditary breast-ovarian cancer (HBOC) due to mutations in the BRCA genes is a major cause of hereditary ovarian cancer, although its frequency and relationship to age and family history in unselected series of ovarian cancers is not completely known. We report here the results of a full mutational screening analysis for germ line BRCA1 and BRCA2 mutations in 161 patients with invasive epithelial ovarian carcinomas. Age at diagnosis ranged from 22 to 82 years (mean 59 years). Deleterious (frame-shift, nonsense and missense) mutations were detected in 13/161 (8%) of the patients and affected BRCA1 in 12 cases and BRCA2 in one case. Four additional... (More)

At least 10% of all ovarian cancers are estimated to have a hereditary background. Hereditary breast-ovarian cancer (HBOC) due to mutations in the BRCA genes is a major cause of hereditary ovarian cancer, although its frequency and relationship to age and family history in unselected series of ovarian cancers is not completely known. We report here the results of a full mutational screening analysis for germ line BRCA1 and BRCA2 mutations in 161 patients with invasive epithelial ovarian carcinomas. Age at diagnosis ranged from 22 to 82 years (mean 59 years). Deleterious (frame-shift, nonsense and missense) mutations were detected in 13/161 (8%) of the patients and affected BRCA1 in 12 cases and BRCA2 in one case. Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%). The 13 patients with deleterious mutations had a mean age of 57 years (range 41-76 years) and only three of these patients were below 50 years of age. A family history of at least one breast cancer and/or ovarian cancer was reported in all but 1 of the patients with BRCA mutations compared with only 24% of patients without mutations. Our findings in this prospective study confirm approximately 1 in 10 patients with ovarian cancer carry a germ line BRCA gene mutation associated with HBOC, and also indicate that a large number of these patients are over 50 years of age at diagnosis.

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published
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keywords
Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Female, Genes, BRCA1, Genes, BRCA2, Humans, Middle Aged, Mutation, Mutation, Missense, Ovarian Neoplasms, Prospective Studies, Sweden
in
European Journal of Cancer
volume
40
issue
3
pages
7 pages
publisher
Elsevier
external identifiers
  • Scopus:1642554820
ISSN
0959-8049
language
English
LU publication?
yes
id
7d28018f-7032-449f-9a79-1dcd32321424
date added to LUP
2016-09-18 12:18:39
date last changed
2016-11-27 04:42:45
@misc{7d28018f-7032-449f-9a79-1dcd32321424,
  abstract     = {<p>At least 10% of all ovarian cancers are estimated to have a hereditary background. Hereditary breast-ovarian cancer (HBOC) due to mutations in the BRCA genes is a major cause of hereditary ovarian cancer, although its frequency and relationship to age and family history in unselected series of ovarian cancers is not completely known. We report here the results of a full mutational screening analysis for germ line BRCA1 and BRCA2 mutations in 161 patients with invasive epithelial ovarian carcinomas. Age at diagnosis ranged from 22 to 82 years (mean 59 years). Deleterious (frame-shift, nonsense and missense) mutations were detected in 13/161 (8%) of the patients and affected BRCA1 in 12 cases and BRCA2 in one case. Four additional missense variants (one in BRCA1 and three in BRCA2) with a possible association with an increased risk ovarian cancer were revealed, resulting in a total frequency of BRCA gene alterations of 17/161 (11%). The 13 patients with deleterious mutations had a mean age of 57 years (range 41-76 years) and only three of these patients were below 50 years of age. A family history of at least one breast cancer and/or ovarian cancer was reported in all but 1 of the patients with BRCA mutations compared with only 24% of patients without mutations. Our findings in this prospective study confirm approximately 1 in 10 patients with ovarian cancer carry a germ line BRCA gene mutation associated with HBOC, and also indicate that a large number of these patients are over 50 years of age at diagnosis.</p>},
  author       = {Malander, S and Ridderheim, M and Måsbäck, A and Loman, N and Kristoffersson, U and Olsson, Håkan and Nilbert, M and Borg, Åke},
  issn         = {0959-8049},
  keyword      = {Adult,Aged,Aged, 80 and over,DNA Mutational Analysis,Female,Genes, BRCA1,Genes, BRCA2,Humans,Middle Aged,Mutation,Mutation, Missense,Ovarian Neoplasms,Prospective Studies,Sweden},
  language     = {eng},
  number       = {3},
  pages        = {8--422},
  publisher    = {ARRAY(0x970f290)},
  series       = {European Journal of Cancer},
  title        = {One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations : results of a prospective study in Southern Sweden},
  volume       = {40},
  year         = {2004},
}