Familial breast cancer: summary of updated NICE guidance

Evans, D. Gareth; Graham, John D.; O’Çonnell, Susan; Arnold, Sarah Louise; Fitzsimmons, Deborah

doi:10.1136/bmj.f3829

Cited by 69 publications

(68 citation statements)

References 2 publications

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“…[30][31][32] On the basis of our estimates, the breast-cancer risk for a PALB2 mutation carrier, even in the absence of a family history of breast cancer, would be classified as high according to various guidelines. 33,34 This level of risk may justify adding PALB2 to genetic testing for BRCA1 and BRCA2.…”

Section: Discussionmentioning

confidence: 99%

Breast-Cancer Risk in Families with Mutations in PALB2

2014

N Engl J Med

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Section: Discussionmentioning

confidence: 99%

Breast-Cancer Risk in Families with Mutations in PALB2

2014

N Engl J Med

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“…Together with the positive genetic results, female carriers receive a check-up agenda based on international guidelines, typically requiring biannual medical consultations and screenings. [4][5][6][7] Clinical recommendations for women with BRCA1/BRCA2-associated hereditary breast/ovarian cancer syndrome can be summarized as follows: semi-annual clinical breast examinations starting from the age of 25 years; annual breast magnetic resonance imaging and mammograms starting from the age of 25-30 years; semi-annual transvaginal ultrasounds and blood tests (tumor marker CA125) starting from the age of 30 years; risk-reducing salpingo-oophorectomy ideally before the age of 40 years; and prophylactic bilateral mastectomy as an option to be discussed on an individual basis. Thus, at-risk women are encouraged to pursue a lifetime health program in close collaboration with several health-care professionals.…”

Section: Introductionmentioning

confidence: 99%

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations

Zufferey

Pagani

Cina

et al. 2015

Genetics in Medicine

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Purpose: Women carrying BRCA1/BRCA2 germ-line mutations have an increased risk of developing breast/ovarian cancer. To minimize this risk, international guidelines recommend lifelong surveillance and preventive measures. This study explores the challenges that unaffected women genetically predisposed to breast/ovarian cancer face in managing their risk over time and the psychosocial processes behind these challenges. Methods:Between 2011 and 2013, biographical qualitative interviews were conducted in Switzerland with 32 unaffected French-and Italian-speaking women carrying BRCA1/BRCA2 mutations. Their mutation status had been known for at least 3 years (mean, 6 years). Data were analyzed through constant comparative analysis using software for qualitative analysis.Results: From the time these women received their positive genetic test results, they were encouraged to follow medical guidelines.Meanwhile, their adherence to these guidelines was constantly questioned by their social and medical environments. As a result of these contradictory pressures, BRCA1/BRCA2 mutation carriers experienced a sense of disorientation about the most appropriate way of dealing with genetic risk. Conclusion:Given the contradictory attitudes of health-care professionals in caring for unaffected BRCA1/BRCA2 mutation carriers, there is an urgent need to educate physicians in dealing with genetically at-risk women and to promote a shared representation of this condition among them.Genet Med advance online publication 11 December 2014

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“…The odds of breast cancers was 5.7 (95% CI, 1.9-14.7) times higher than 17 of 3,033 (0.6%) of those diagnosed in women with no family history of breast cancer. These finding are at an early stage in follow-up and more time is required to assess whether with further cancers NICE guidance on extra screening is justified (7).…”

Section: Discussionmentioning

confidence: 99%

“…This includes annual mammography ages 40 to 49 years for women at moderate risk and annual screening ages 40 to 60 years in those at high risk (annual MRI is recommended ages 30 to 50 years in mutation carriers and those with at least a 30% chance of a mutation in BRCA1/2 or TP53). This guidance has just been updated and the highrisk recommendations are already being implemented in the NHSBSP as highlighted recently (7). Recent evidence suggests that stratification of risk and screening frequency is likely to be more cost effective (8)(9)(10).…”

Section: Introductionmentioning

confidence: 99%

Breast Cancer Risk in Young Women in the National Breast Screening Programme: Implications for Applying NICE Guidelines for Additional Screening and Chemoprevention

Evans

Brentnall

Harvie

et al. 2014

Cancer Prevention Research

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In the United Kingdom, women at moderate and high risk of breast cancer between the ages of 40 and 49 years are eligible for annual mammographic screening and preventive therapy with tamoxifen. Here, we estimate the numbers of women in a population eligible for this service and the proportion of breast cancers detected in this group compared with the whole population. Women <50 attending for mammographic screening in the National Health Service Breast Screening Programme (NHSBSP) completed a risk questionnaire. The proportion at moderate and high risk according to National Institute of Health Care Excellence (NICE) guidelines was estimated. An estimate was also made using a different model of risk estimation (Tyrer-Cuzick). The numbers of cancers detected in the moderate/high risk groups were compared with numbers detected in the whole population. Completed questionnaires were available for 4,360 women between ages 46 and 49 years. Thirty women [0.7%; 95% confidence interval (CI), 0.5-1.0%] were at high risk and 130 (3.0%, 2.5-3.5%) were at moderate risk according to NICE guidelines. Thirtyseven cancers were detected by mammography in the whole group. Five of these were found in the moderate-/high-risk group giving a 3.2-fold increase in detection compared with the standard risk group. More women were assigned to the moderate-or high-risk group using the Tyrer-Cuzick model (N ¼ 384), but the numbers of cancers in this group were not appreciably increased (N ¼ 8). Systematic assessment of family history in primary care or through population-based screening will identify appreciable numbers of women in their forties, eligible for additional surveillance and chemoprevention Cancer Prev Res; 7(10);

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Familial breast cancer: summary of updated NICE guidance

Cited by 69 publications

References 2 publications

Breast-Cancer Risk in Families with Mutations in PALB2

Breast-Cancer Risk in Families with Mutations in PALB2

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations

Breast Cancer Risk in Young Women in the National Breast Screening Programme: Implications for Applying NICE Guidelines for Additional Screening and Chemoprevention

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