Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

Antoniou, Antonis C.; Hardy, Rachel; Walker, Lisa; Evans, D. Gareth; Shenton, Andrew; Eeles, Rosalind; Shanley, Susan; Pichert, Gabriella; Izatt, Louise; Rose, Steven J; Douglas, Gillian; Eccles, Diana; Morrison, Patrick J.; Scott, Jessica; Zimmern, Ron; Easton, Douglas F.; Pharoah, Paul D.P.

doi:10.1136/jmg.2007.056556

Cited by 175 publications

(177 citation statements)

References 22 publications

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“…This can be used together with models to estimate risk using clinical parameters [93]. Once cancer risk is identified and also "quantified", risk management becomes important.…”

Section: Resultsmentioning

confidence: 99%

Screening for gynaecologic cancers in genetically predisposed women

Dreyer

2012

Best Practice & Research Clinical Obstetrics & Gynaecol

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Hereditary breast and ovarian cancer (HBOC) syndrome and hereditary nonpolyposis colon cancer (HNPCC) syndrome are the two most important syndromes responsible for inherited cancers in gynaecology. Genetic testing is available for both these syndromes. BRCA testing is affordable and easy in patients with ancestry where the mutation patterns are known, other population groups need full gene screening. HNPCC can now be diagnosed more frequently with the use of immunohistochemistry.Ovarian cancer risk is high in HBOC syndromes and advanced screening techniques should be used when preventive surgery is not an option. Early detection techniques offer less protection than prophylactic removal, but enable the patient to retain her reproductive organs. Oophorectomy has the advantage of reducing breast cancer risk.In colorectal cancer syndromes the risk for endometrial and ovarian cancer is much elevated. These risks should be recognised and addressed as these diseases are easy to prevent.

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“…This can be used together with models to estimate risk using clinical parameters [93]. Once cancer risk is identified and also "quantified", risk management becomes important.…”

Section: Resultsmentioning

confidence: 99%

Screening for gynaecologic cancers in genetically predisposed women

Dreyer

2012

Best Practice & Research Clinical Obstetrics & Gynaecol

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“…Diferentes estudios han estimado la capacidad de predicción de estos modelos predictivos 13,14 , y algunos de ellos han comparado su eficiencia con la predicción de los profesionales de consejo genético 14,15 . No existen estudios en nuestro entorno sobre la utilidad de estos modelos predictivos para la toma de decisiones de los profesionales de enfermería que participan en el proceso de consejo genético.…”

Section: Introductionunclassified

Capacidad predictiva del modelo BCRAPro frente al profesional de enfermería en la selección de candidatos a estudio genético de cáncer de mama u ovario hereditario

et al. 2010

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“…• the relatively low cost of common mutation testing makes it possible to offer it to a broader group of women • more sophisticated scoring systems designed to estimate the likelihood of BRCA carrier status [13] are cumbersome and of uncertain relevance in our patient population • family history information is often limited.…”

Section: Genetic Counselling and Testing Approachmentioning

confidence: 99%

Implementation of a breast cancer genetic service in South Africa – lessons learned

et al. 2013

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Background. Genetic testing for BRCA mutations has been available in the Western Cape of South Africa since 2005, but practical implementation of genetic counselling and testing has been challenging. Objective. To describe an approach to breast cancer genetic counselling and testing developed in a resource-constrained environment at Tygerberg Hospital in Cape Town, Western Cape. Methods. Genetic counselling is offered in a stepwise manner to our diverse patient population, with a focus on affected probands, and subsequent cascade testing. A record review of BRCA testing between 2005 and 2011 was performed. Results. During this period 302 probands received genetic testing, with increasing numbers tested over time. Of 1 520 women treated for breast cancer since 2008, 226 (14.9%) accepted BRCA testing, and 39 tested positive (17.3% of those tested, and 2.6% of all women). Common founder mutations were detected in 11.9% of women (36/302), and comprised 73% (36/49) of mutations detected. Cascade testing increased after 2010: 16 female and 4 male family members of 19 probands accepted testing, with 6 positives being detected. Conclusion. A protocol-driven approach focusing on probands, with initial pre-test counselling by primary care staff has proven effective in establishing the service. Involvement of a clinical geneticist/genetic counsellor has permitted more detailed post-test counselling and increased use of cascade testing.

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Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

Abstract: Carrier prediction algorithms provide a rational basis for counselling individuals likely to carry BRCA1 or BRCA2 mutations. Their widespread use would improve equity of access and the cost-effectiveness of genetic testing.

Cited by 175 publications

References 22 publications

Screening for gynaecologic cancers in genetically predisposed women

Screening for gynaecologic cancers in genetically predisposed women

Capacidad predictiva del modelo BCRAPro frente al profesional de enfermería en la selección de candidatos a estudio genético de cáncer de mama u ovario hereditario

Implementation of a breast cancer genetic service in South Africa – lessons learned

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