Fortnightly review: Hereditary ovarian carcinoma

Kasprzak, Lidia; Foulkes, William D.; Shelling, Andrew N.

doi:10.1136/bmj.318.7186.786

Cited by 30 publications

(12 citation statements)

References 36 publications

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“…Mutation carriers have an increased risk of developing breast cancer at different ages, with estimates of approximately 37% up to 40 years, 66% up to 55, 73% up to 70, and 82% over their entire lifetime (Hall et al, 1990;Brose et al, 2002). As for ovarian cancer, the risk was estimated to be 29% up to 50 years and 40% up to 70 years (Ford et al, 1998;Kasprazak et al, 1999;Brose et al, 2002).…”

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confidence: 99%

BRCA1 mutations in Brazilian patients

et al. 2004

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BRCA1 mutations are known to be responsible for the majority of hereditary breast and ovarian cancers in women with early onset and a family history of the disease. In this paper we present a mutational survey conducted in 47 Brazilian patients with breast/ovarian cancer, selected based on age at diagnosis, family history, tumor laterality, and presence of breast cancer in male patients. All 22 coding exons and intron-exon junctions were sequenced. Constitutional mutations were found in seven families, consisting of one insertion (insC5382) in exon 20 (four patients), one four base-pair deletion (3450-3453delCAAG) in exon 11 resulting in a premature stop codon (one patient), one transition (IVS17+2T > C) in intron 17 affecting a mRNA splicing site (one patient), and a C > T transition resulting in a stop-codon (Q1135X) in exon 11 (one patient). The identification of these mutations which are associated to hereditary breast and ovarian cancers will contribute to the characterization of the mutational spectrum of BRCA1 and to the improvement of genetic counseling for familial breast/ovarian cancer patients in Brazil. Key words: BRCA1, breast cancer, ovarian cancer. The Breast Cancer Linkage Consortium dataset indicates that the proportion of familial breast and ovarian cancers associated to BRCA1 or BRCA2 may be as high as 98% (Martin et al., 2001). Mutations in BRCA1 account for 45% of families with multiple cases of breast cancer and for at least 80% of families with early-onset breast and/or ovarian cancer (Miki et al., 1994). Moreover, 88% of families with at least four cases of early-onset breast cancer and one case of ovarian cancer are related to mutations in BRCA1 and BRCA2 (Unger et al., 2000). Furthermore, germ line BRCA1 or BRCA2 mutation carriers also have an increased risk of developing other cancers in prostate, stomach, colon, pancreas, fallopian tubes and uterus when compared to the general population (Offit, 1998;Brose et al., 2002). However, the alternative possibility of mutations in other, still unidentified susceptibility genes with low penetrance or chance clustering in families with multiple cases of breast/ovarian cancer without mutations in BRCA1 or BRCA2 remains to be determined.More than 800 different mutations were reported in BRCA1, and most of them are listed in the Breast Cancer Information Core (BIC -http://research.nhgri.nih.gov/bic/). Mutation carriers have an increased risk of developing breast cancer at different ages, with estimates of approximately 37% up to 40 years, 66% up to 55, 73% up to 70, and 82% over their entire lifetime (Hall et al., 1990;Brose et al., 2002). As for ovarian cancer, the risk was estimated to be 29% up to 50 years and 40% up to 70 years (Ford et al

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confidence: 99%

BRCA1 mutations in Brazilian patients

et al. 2004

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“…1 No effective screening modalities exist, 2 and genetic predisposition appears to account for a small percentage of all ovarian cancers. 3 Identification of modifiable risk factors could favorably influence cancer prevention, but only multiparity, long-term use of oral contraceptives and certain gynecologic surgeries are consistently associated with reduced risks of ovarian cancer in epidemiologic studies. 4 Some reports identified acetaminophen (Tylenol) and anti-inflammatory medications as potential chemopreventive agents.…”

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confidence: 99%

Medication use and risk of ovarian carcinoma: A prospective study

Lacey

Sherman

Hartge

et al. 2003

Intl Journal of Cancer

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Inflammation and gonadotropins are hypothesized to influence ovarian carcinogenesis. In a prospective study, we evaluated ovarian cancer risk associated with self-reported use of medications that influence inflammation or gonadotropin levels. The Breast Cancer Detection Demonstration Project Follow-Up Study enrolled 61,431 women in 1979 and used telephone interviews and 3 mailed questionnaires through 1998 to update risk factor information and identify incident ovarian cancers. The 1992-95 questionnaire ascertained medication use, including duration and frequency of use for aspirin, acetaminophen, other nonsteroidal anti-inflammatory drugs (NSAIDs), tranquilizers and histaminereceptor antagonists. A Poisson regression analysis generated rate ratios (RRs) and 95% confidence intervals (CIs) for the 31,364 women who were at risk of ovarian cancer and responded to the questionnaire that queried regular medication use. One hundred sixteen women developed ovarian cancer during follow-up. None of the anti-inflammatory medications was associated with ovarian cancer, but the RR for more than 1 aspirin per day for 1 year or longer was 0.56 (95% CI 0.20 -1.5) and the RR for more than 5 years of regular "other NSAID" use was 2.0 (95% CI 0.95-4.2). Regular tranquilizer use was not associated with ovarian cancer, but histamine-receptor antagonists used regularly for more than 5 years (RR ‫؍‬ 3.6, 95% CI 1.4 -9.1) or more than once daily (RR ‫؍‬ 3.1, 95% CI 1.5-6.5) appeared to increase risk. In our study, neither anti-inflammatory medications nor anti-psychotic medications were associated with ovarian cancer. Potential associations with histamine-receptor antagonists may warrant further study.

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“…A possible genetic explanation for high incidence rates could be that between 5 and 10% of ovarian carcinomas are directly hereditary, and that the most common form occurs in women with BRCA1 or BRAC2 mutations 29. The reasons underlying why women of different ethnic groups are more likely to be diagnosed with certain cancer subtypes are not known, thus requires further research.…”

Section: Discussionmentioning

confidence: 99%

“…To the authors’ knowledge, no studies have compared ovarian cancer subtypes between different ethnic populations in the same country, or between women of the same ethnic origin living in different countries, thus further research to examine why specific ovarian cancer subtypes appear more common in different ethnic groups may be useful 5 29…”

Section: Discussionmentioning

confidence: 99%