There is a lack of formal scientific evidence on how best to manage women with a family history of breast cancer, in terms both of communicating about their risk of developing the disease and of advising about the optimal risk management strategy. It is vital that services offered to these women are adequately evaluated to inform future practice. This paper reports data from an ongoing longitudinal study of the knowledge, attitudes and behavioural and emotional responses of women attending a familial breast cancer clinic in SE Scotland. The clinic was established in 1992, and at that time there were no published psychological data available from the small number of similar clinics in the UK. We were aware of the subsequently published assessments from Manchester of womenÕs perceptions of their risk of developing breast cancer (Evans et al, 1993(Evans et al, , 1994. The same method of assessing risk perceptions was therefore adopted in this study. In spite of a subsequent proliferation of cancer risk counselling clinics there has remained a dearth of published reports evaluating the services offered.The concerns when our clinic opened were that the women seeking referral would be characterized by high anxiety and not necessarily at significantly increased risk. A further concern was that the process of counselling about cancer risk would be anxiety provoking, particularly for those who would be told that their risk was greater than they had previously thought. In the current state of knowledge, the information that can be given about individual risk and the efficacy of available risk management strategies is highly probabilistic. It was recognized that this uncertainty could also generate anxiety. Key issues were therefore to assess womenÕs perceptions of their risk of developing breast cancer and the psychological morbidity associated with cancer risk counselling.This study was conducted against a background of data accruing from the US to show a substantial proportion of women with a family history of breast cancer with significant levels of psychological distress (Kash et al, 1992) and gross overestimates of their own cancer risk (Lerman et al, 1994a;Gagnon et al, 1996) even after risk counselling (Lerman et al, 1995). High levels of perceived susceptibility and associated anxiety have been shown to interfere with adherence to recommended surveillance programmes (Kash et al, 1992;Lerman et al, 1993). The concern has also been expressed that some women will deal with their concerns by making ill-considered requests for genetic testing or prophylactic surgery (Lerman et al, 1994b). In the UK, Lloyd et al (1996) compared 62 genetic counsellees (with a family history of breast cancer) with a matched group of attenders at a general practitionerÕs (GP) surgery. They found these two groups of women to be similar in terms of the outcome measures used and concluded that the risk of breast cancer was not predictive of psychological morbidity. In this study, risk perceptions were recorded before counselling, but 58% of t...

Summary A video of introductory information about inherited susceptibility to breast cancer was made in consultation with clinicians in four Scottish cancer family clinics. One hundred and twenty-eight women, newly referred for breast cancer risk counselling were randomized to receive the video before (n = 66) or after (n = 62) counselling. Data were collected before randomization at clinic and by postal follow-up at 1 month. The Video Before group had shorter consultations with the breast surgeon (mean = 1 1.8 min ± 5.4 vs 14.6 ± 7.2 for the Video After group). There was no difference between the groups in the accuracy of their risk estimate after counselling, although the Video Before group scored higher for self-reported (Z= 3.65, d.f. = 1, P< 0.01) and objectively assessed understanding (Z= 2.91, d.f. = 1, P < 0.01). At 1 month follow-up, the Video Before group were less likely to underestimate their risk estimate (38% vs 18%; X2 = 4.62, d.f. = 1, P < 0.05), but there was then no difference between the groups in subjective or objective understanding. Use of the video was not associated with increased distress (GHQ, Spielberger State Anxiety) and was associated with greater satisfaction with the information given at the clinic. This study supports the value of videotape as a method of giving information to prepare women for breast cancer risk counselling. Observations of misunderstandings and distress emphasize the video should be seen as an aid to, not a substitute, for communications at the clinic.

Dedicated clinics have been established for the early diagnosis and treatment of women at risk for inherited breast cancer, but the effects of such interventions are currently unproven. This second report on prospectively diagnosed inherited breast cancer from the European collaborating centres supports the previous conclusions and adds information on genetic heterogeneity and the effect of oophorectomy. Of 249 patients, 20% had carcinoma in situ (CIS), 54% had infiltrating cancer without spread (CaN0) and 26% had cancer with spread (CaN؉). Five-year survival was 100% for CIS, 94% for CaN0 and 72% for CaN؉ (p ‫؍‬ 0.007). Thirty-six patients had BRCA1 mutations, and 8 had BRCA2 mutations. Presence of BRCA1 mutation was associated with infiltrating cancer, high grade and lack of oestrogen receptor (p < 0.05 for all 3 characteristics). For BRCA1 mutation carriers, 5-year survival was 63% vs. 91% for noncarriers (p ‫؍‬ 0.04). For CaN0 patients, mutation carriers had 75% 5-year disease-free survival vs. 96% for noncarriers (p ‫؍‬ 0.01). Twenty-one of the mutation carriers had undergone prophylactic oophorectomy, prior to or within 6 months of diagnosis in 13 cases. All but 1 relapse occurred in the 15 who had kept their ovaries, (p < 0.01); no relapse occurred in those who had removed the ovaries within 6 months (p ‫؍‬ 0.04) Contralateral cancer was more frequently observed in mutation noncarriers, but this finding did not reach statistical significance. Our findings support the concept that BRCA1 cancer is biologically different from other inherited breast cancers. While current screening protocols appear satisfactory for the majority of women at risk of familial breast cancer, this may not be the case for BRCA1 mutation carriers. The observed effect of oophorectomy was striking.

Women with a family history of breast cancer are commonly offered regular clinical or mammographic surveillance from age 30. Data on the efficacy of such programmes are limited. Clinical, pathological and outcome data were recorded on all breast and ovarian cancers diagnosed within familial breast cancer surveillance programmes at collaborating centers in Norway and the UK up to the end of 2005. These have been analyzed according to the mutation status of the affected women (BRCA11ve, BRCA21ve or mutation-negative). Breast cancer was diagnosed in 442 patients subsequently followed for a total of 2095 years. Eightynine (20%) had BRCA1 mutations, 35 (8%) BRCA2 mutations and in 318 (72%) no mutation could be detected (''mut neg''). Fiveyear survival in BRCA1 was 73% compared to 96% in BRCA2 and 92% in mut neg (p 5 0.000). Among BRCA1 mutation-carriers, 5-year survival was 67% for cases diagnosed as carcinoma in situ, 84% for node-negative invasive cancers and 58% for those with nodal involvement (p > 0.05). For BRCA2 mutation-carriers the corresponding figures were 100, 100 and 90% (p > 0.05), while for mut neg women they were 100, 97 and 71% (p 5 0.03). Regular surveillance in women at increased familial risk of breast cancer is associated with a good outcome if they carry BRCA2 mutations or no detectable mutation. Carriers of BRCA1 mutations fare significantly worse, even when their tumors are diagnosed at an apparently early stage. The differences in outcome associated with different genetic causes of disease were associated with demonstrated differences in tumor biology. The findings demonstrate the outcome for genetically different breast cancers detected within a programme for early diagnosis and treatment, which is relevant to genetic counseling when women at risk have to chose between the options for preventing death from inherited breast cancer. ' 2007 Wiley-Liss, Inc.

This study compared the psychological impact of two models of breast cancer genetics services in South East Scotland. One hundred and seventy general practices were randomised to refer patients to the existing standard regional service or the novel communitybased service. Participants completed postal questionnaires at baseline (n ¼ 373), 4 weeks (n ¼ 276) and 6 months (n ¼ 263) to assess perceived risk of breast cancer, subjective and objective understanding of genetics and screening issues, general psychological distress, cancer worry and health behaviours. For participants in both arms of the trial, there were improvements in subjective and objective understanding up to 4 weeks which were generally sustained up to 6 months. However, improvements in subjective understanding for the women at low risk of breast cancer (i.e. not at significantly increased risk) in the standard service arm did not reach statistical significance. Cancer worry was significantly reduced at 6 months for participants in both arms of the trial. The two models of cancer genetics services tested were generally comparable in terms of the participants' psychological outcomes. Therefore, decisions regarding the implementation of the novel community-based service should be based on the resources required and client satisfaction with the service. Media attention to scientific developments in cancer genetics has resulted in a greatly increased demand for cancer genetics services. These services aim to identify individuals who have inherited a significantly increased risk of cancer in order to counsel them about their risks and to offer appropriate risk management to reduce morbidity and mortality. There is a challenge to provide this information in ways that the lay public can utilise to inform their health-care choices without causing undue psychological distress. Individuals who are not at significantly increased risk also need appropriate reassurance without precluding an appropriate vigilance to symptoms of sporadic cancer. There is also a challenge to respond to these new developments within existing health-care budgets. Internationally, there is a lack of consensus about how best to deliver cancer genetic services (Steel et al, 1999) and an urgent need for empirical evidence to inform service development.A survey of 22 regional cancer genetics services in the UK in 1998 reported that the predominant users of these services were women with a family history of breast cancer (Wonderling et al, 2001). Of the women who are diagnosed with breast cancer, about 10% report having a family history of the disease (Narod, 2002). Of these cases, only a small proportion will be due to inherited genetic mutations in one of the known susceptibility genes, BRCA1 and BRCA2. These genetic mutations give rise to increased lifetime risks of developing the disease, often at an earlier age than is the norm for sporadically occurring cases.Brain et al (2000) showed that there was no difference in the effectiveness of multidisciplinary cancer genetics teams and b...

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As part of a cluster randomised trial to assess an alternative model of cancer genetics services, we gathered data on all referrals from general practitioners (GPs) to cancer genetics services in South East Scotland over a 4-year period. The referral rate per 1000 patients rose by 48% from 0.21 in the 2-year period before the trial to 0.31 during the trial. This increase was much greater in the trial group offered the GP clinic service (64% increase compared to a 38% increase in those referred to the regional service). Thus, the offer of a more local service appeared to have a marked effect on GP management of these women. Referral rates to cancer genetics services from general practices varied widely with higher referral rates from practices with more female partners. There was a negative correlation between referral rates and practice area deprivation scores. However, this was not found during the trial in the group which offered clinics in general practice, the provision of clinic appointments nearer to the homes of more socially deprived women resulting in improved access to women from deprived areas. The interaction with the GP appears to be associated with an inappropriate level of interest in and expectation of the appropriateness of genetic testing. The provision of the clinics within general practice did not result in higher levels of confidence among GPs in managing these women.

We conclude that risk reducing surgery is highly effective.