BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface

Lee, A J; Cunningham, Alex; Kuchenbaecker, Karoline; Mavaddat, Nasim; Easton, Douglas F.; Antoniou, Antonis C.

doi:10.1038/bjc.2013.730

Cited by 196 publications

(164 citation statements)

References 42 publications

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“…It can use the mutation screening result, molecular tumor characteristics like estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), and basal cytokeratin (CK) expression (CK5/6 and CK14), and family histories of BRCA1/2 -associated cancers [59,60]. …”

Section: Breast Cancer Risk Prediction Modelsmentioning

confidence: 99%

Breast Cancer Risks and Risk Prediction Models

Engel

Fischer

2015

Breast Care

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BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer. The personalized clinical management of carriers and other at-risk individuals depends on precise knowledge of the cancer risks. In this report, we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models that are currently used for individual risk assessment in clinical practice. Cancer risks show large variability between studies. Breast cancer risks are at 40-87% for BRCA1 mutation carriers and 18-88% for BRCA2 mutation carriers. For ovarian cancer, the risk estimates are in the range of 22-65% for BRCA1 and 10-35% for BRCA2. The contralateral breast cancer risk is high (10-year risk after first cancer 27% for BRCA1 and 19% for BRCA2). Risk prediction models have been proposed to provide more individualized risk prediction, using additional knowledge on family history, mode of inheritance of major genes, and other genetic and non-genetic risk factors. User-friendly software tools have been developed that serve as basis for decision-making in family counseling units. In conclusion, further assessment of cancer risks and model validation is needed, ideally based on prospective cohort studies. To obtain such data, clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.

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Section: Breast Cancer Risk Prediction Modelsmentioning

confidence: 99%

Breast Cancer Risks and Risk Prediction Models

Engel

Fischer

2015

Breast Care

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“…Information about the family history of cancer is an important predictor for estimating both the breast cancer risk and the probability of being a mutation carrier, for example, a carrier of a BRCA1 or BRCA2 mutation (1)(2)(3)(4)(5)(6). It has been suggested that a paternal origin of the BRCA mutation increases the breast cancer risk, whereas it decreases the ovarian cancer risk (7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Vos

Oosterwijk

Aalfs

et al. 2016

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background:Paternal transmission of a BRCA mutation has been reported to increase the risk of breast cancer in offspring more than when the mutation is maternally inherited. As this effect might be caused by referral bias, the aim of this study was to assess the parent-of-origin effect of the BRCA1/2 mutation on the breast cancer lifetime risk, when adjusted for referral bias.Methods: A Dutch national cohort including 1,314 proven BRCA1/2 mutation carriers and covering 54,752 person years. Data were collected by family cancer clinics, via questionnaires and from the national Dutch Cancer Registry. The parent-of-origin effect was assessed using Cox regression analyses, both unadjusted and adjusted for referral bias. Referral bias was operationalized by number of relatives with cancer and by personal cancer history.Results: The mutation was of paternal origin in 330 (42%, P < 0.001) BRCA1 and 222 (42%, P < 0.001) BRCA2 carriers.

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“…The history of cancer(s) is then added, using the population-based Cancer Registry operated by the Icelandic Cancer Society (http://www.krabbameinsskra.is). By this method, comprehensive, electronically generated pedigrees (EGP) are made, enabling very accurate family history for risk assessment and calculations (Stefansdottir et al, 2013a, Lee et al 2014. However, like other methods of family history taking, this may also help to identify individuals who may be at increased risk of having a mutation in either the BRCA1 or BRCA2 gene, (hereafter referred to as BRCA mutations) or other inherited cancer predisposition.…”

Section: Introductionmentioning

confidence: 99%

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information

et al. 2016

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While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nationwide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees. Four online focus groups with 19 participants were formed, using an asynchronous posting method. Participants were encouraged to discuss their responses to questions posted on the website by the researcher. The main themes arising were motivation, information and trust, impact of testing and emotional responses. Most of the participants expressed trust in the method of using electronically generated pedigrees, although some voiced worries about information safety. Many experienced worry and anxiety while waiting for results of genetic testing, but limited survival guilt was noted. Family communication was either unchanged or improved following genetic counselling. The use of electronically generated pedigrees was well received by participants, and they trusted the information obtained via the databases. Age did not seem to influence responses. These results may be indicative of the particular culture in Iceland, where genealogical information is well known and freely shared. Further studies are needed to determine whether use of similar approaches to genealogical information gathering may be acceptable elsewhere.

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BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface

Cited by 196 publications

References 42 publications

Breast Cancer Risks and Risk Prediction Models

Breast Cancer Risks and Risk Prediction Models

Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information

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