11 juli 2012: toegevoegd onderaan abstract van review studie: Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations uit European Journal of  Human Genetics en volledige studierapport gratis in te zien. Plus referentielijst van gerelateerde studies

11 mei 2005: Bron: Gynecol Oncol. 2005 May;97(2):476-82.

Nederlandse onderzoekers stellen grote vraagtekens bij het traditioneel volgen van mensen met hoog erfelijk bepaald risico op eierstokkanker via gangbare methoden als uitstrijkje, CA 125 marker en scan. 6 jaar lang volgden de onderzoekers aan het Erasmus Medisch Centrum 383 vrouwen waarvan de helft belast met erfelijk BRCA1/2 gen met hoog risico op eierstokkanker. De uitkomsten waren zeer onbetrouwbaar maar lees onderstaand abstract maar.

Outcome of surveillance and prophylactic salpingo-oophorectomy in asymptomatic women at high risk for ovarian cancer. Meeuwissen PA, Seynaeve C, Brekelmans CT, Meijers-Heijboer HJ, Klijn JG, Burger CW. Family Cancer Clinic, The Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Erasmus University Medical Centre Rotterdam, Room H585, Dr Molewaterplein 40, 3000 CC Rotterdam, The Netherlands. OBJECTIVE: Women at high risk of ovarian cancer are currently offered two options: either surveillance or prophylactic bilateral salpingo-oophorectomy. The efficacy and outcome of surveillance remain unclear.

METHODS: We performed a retrospective study. Between 1994 and 2000, we screened 383 high-risk women, of which 152 were BRCA1/2 mutation carriers. Surveillance consisted of annual gynecological examination, transvaginal ultrasound, and serum CA125 measurement. Exploratory or prophylactic surgery was performed in selected cases.

RESULTS: There were no screen-detected primary ovarian cancers. Abnormal results at surveillance were observed in 74 (19.3%) of women; in 47 (63.5%), the abnormalities disappeared spontaneously. Exploratory surgery was performed in 20 (27.0%) women in whom one malignancy was found (metastatic breast cancer in the ovary). A rising CA125 value prompted further (non-surgical) evaluation in three women with a history of breast cancer: recurrent breast cancer was diagnosed in two women; in the third, a chondrosarcoma was found. 133 women opted for prophylactic bilateral salpingo-oophorectomy, whereby two unexpected malignancies were found (fallopian tube cancer and metastatic breast cancer). One interval primary ovarian cancer occurred, presenting as papillary serous carcinoma of the peritoneum 14 months after prophylactic bilateral salpingo-oophorectomy. Complications of prophylactic surgery were encountered in 15 (11.5%) women.

CONCLUSIONS: Ovarian cancer surveillance has limited sensitivity, and a high number of false positive findings. This can lead to unnecessary surgical interventions, possibly resulting in surgery-related complications. It is important to inform high-risk women of these limitations. For now, prophylactic bilateral salpingo-oophorectomy remains the optimal risk-reducing strategy for women at high risk.

PMID: 15863147 [PubMed - in process]

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations

Cancer risk management strategies and perceptions of unaffected women 5 years after predictive genetic testing for BRCA1/2 mutations.

Source

INSERM, U912, IRD, Institut Paoli-Calmettes, Marseille, France. claire.julian-reynier@inserm.fr

Abstract

In a French national cohort of unaffected females carriers/non-carriers of a BRCA1/2 mutation, long-term preventive strategies and breast/ovarian cancer risk perceptions were followed up to 5 years after test result disclosure, using self-administered questionnaires. Response rate was 74%. Carriers (N=101) were younger (average age ± SD=37 ± 10) than non-carriers (N=145; 42 ± 12). There were four management strategies that comprised 88% of the decisions made by the unaffected carriers: 50% opted for breast surveillance alone, based on either magnetic resonance imaging (MRI) and other imaging (31%) or mammography alone (19%); 38% opted for either risk reducing salpingo-oophorectomy (RRSO) and breast surveillance, based on MRI and other imaging (28%) or mammography alone (10%). The other three strategies were: risk reducing mastectomy (RRM) and RRSO (5%), RRM alone (2%) and neither RRM/RRSO nor surveillance (6%). The results obtained for various age groups are presented here. Non-carriers often opted for screening despite their low cancer risk. Result disclosure increased carriers' short-term high breast/ovarian cancer risk perceptions (P ≤ 0.02) and decreased non-carriers' short- and long-term perceptions (P<0.001). During follow-up, high breast cancer risk perceptions increased with time among those who had no RRM and decreased in the opposite case; high ovarian cancer risk perceptions increased further with time among those who had no RRSO and decreased in the opposite case; RRSO did not affect breast cancer risk perceptions. Informed decision-making involves letting women know whether opting for RRSO and breast MRI surveillance is as effective in terms of survival as RRM and RRSO.

PMID:
21267012
[PubMed - indexed for MEDLINE]
PMCID:
PMC3083622

References

  • Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008;299:1320–1334. [PubMed]
  • Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med. 2008;10:19–32. [PubMed]
  • Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet. 2000;355:2015–2020. [PubMed]
  • Botkin JR, Smith KR, Croyle RT, et al. Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. Am J Med Genet A. 2003;118A:201–209. [PubMed]
  • Foster C, Watson M, Eeles R, et al. Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br J Cancer. 2007;96:718–724. [PMC free article] [PubMed]
  • van Oostrom I, Meijers-Heijboer H, Lodder LN, et al. Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol. 2003;21:3867–3874. [PubMed]
  • Dawson SJ, Price MA, Jenkins MA, et al. Cancer risk management practices of noncarriers within BRCA1/2 mutation positive families in the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. J Clin Oncol. 2008;26:225–232. [PubMed]
  • Metcalfe KA, Ghadirian P, Rosen B, et al. Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation. Open Med. 2007;1:e92–e98. [PMC free article] [PubMed]
  • Watson M, Foster C, Eeles R, et al. Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. Br J Cancer. 2004;91:1787–1794. [PMC free article] [PubMed]
  • Skytte AB, Gerdes AM, Andersen MK, et al. Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing. Clin Genet. 2010.
  • Lynch HT, Snyder C, Lynch JF, et al. Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. Cancer Genet Cytogenet. 2006;165:91–97. [PubMed]
  • Andrieu N, Goldgar DE, Easton DF, et al. Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS) J Natl Cancer Inst. 2006;98:535–544. [PMC free article] [PubMed]
  • Antoniou AC, Rookus M, Andrieu N, et al. Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev. 2009;18:601–610. [PubMed]
  • Julian-Reynier C, Bouhnik AD, Mouret-Fourme E, et al. Time to prophylactic surgery in BRCA1/2 carriers depends on psychological and other characteristics. Genet Med. 2010;12:801–807. [PubMed]
  • Eisinger F, Alby N, Bremond A, et al. Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol. 1998;9:939–950. [PubMed]
  • Eisinger F, Bressac B, Castaigne D, et al. Identification and management of hereditary predisposition to cancer of the breast and the ovary (update 2004) Bull Cancer. 2004;91:219–237. [PubMed]
  • Evans DG, Gaarenstroom KN, Stirling D, et al. Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers. J Med Genet. 2009;46:593–597. [PubMed]
  • Julian-Reynier C, Eisinger F, Moatti JP, Sobol H. Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. Eur J Hum Genet. 2000;8:204–208. [PubMed]
  • Julian-Reynier CM, Bouchard LJ, Evans DG, et al. Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women. Cancer. 2001;92:959–968. [PubMed]
  • Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 2009;101:80–87. [PMC free article] [PubMed]
  • Finch A, Metcalfe K, Lui J, et al. Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene. Clin Genet. 2009;75:220–224. [PubMed]
  • Julian-Reynier C, Welkenhuysen M, Hagoel L, Decruyenaere M, Hopwood P. Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services. Eur J Hum Genet. 2003;11:725–736. [PubMed]
  • Metcalfe KA, Esplen MJ, Goel V, Narod SA. Psychosocial functioning in women who have undergone bilateral prophylactic mastectomy. Psychooncology. 2004;13:14–25. [PubMed]
  • van Dooren S, Rijnsburger AJ, Seynaeve C, et al. Psychological distress in women at increased risk for breast cancer: the role of risk perception. Eur J Cancer. 2004;40:2056–2063. [PubMed]
  • Bresser PJ, Seynaeve C, Van Gool AR, et al. The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy. Eur J Cancer. 2007;43:95–103. [PubMed]

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