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Community Genet 2003;6:242248

DOI: 10.1159/000079386

BRCA1/2 Mutation Carriers:

Living with Susceptibility
Lea Hagoel a Efrat Neter b Sara Dishon a Ofra Barnett a Gad Rennert a
a Department of Community Medicine and Epidemiology, Carmel Medical Center and the Faculty of Medicine,
Technion, Haifa, b Department of Behavioral Sciences, Ruppin College, Emeq Hefer, Israel

Key Words
BRCA1/2 mutations W Genetic counseling W Familial
breast and ovarian cancer W Carrier, cancer mutation

Objectives: To examine whether being a BRCA1/2 mutation carrier affects a wide array of aspects of life, and if
so, how. Methods: Participants were grouped according
to their carrier status (carrier and noncarrier status),
health status (affected or unaffected by cancer), and their
enrollment at the counseling service (probands and other family members). One hundred and sixty-five women
completed a self-administered questionnaire following
their genetic consultation session. Results: Probands/
nonprobands and carriers/noncarriers did not differ with
regard to demographic characteristics, health behaviors
including medical checkups, the distress they experience
or their resources (sense of coherence, social integration, religiosity). Individuals affected by cancer did differ
on some of these aspects from participants without cancer. Conclusions: From the results of this study, being a
carrier could not be considered a psychosocial risk factor, nor does it seem to have an effect on carriers
resources and lifestyle.
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Presymptomatic genetic testing, a process in which

individuals are given information about their own probability of developing a disease based on various risk factors, is becoming prevalent in the medical field [1]. Familial cancer clinics provide risk assessment, genetic testing
when appropriate and advice about screening and preventive options [2]. Beside carrying out the above, one of
the goals of such services is to maintain and/or enhance
the emotional and social-behavioral well-being of counselees.
The availability of this new type of service led to
research into its psychological impact. Initially, clinicians
and researchers expected to observe adverse reactions.
These reactions range from mourning the loss of a sense of
invulnerability of the self and a sense of an ideal future [3]
to intrusive thoughts, impaired daily functioning due to
the intrusive thoughts and sleep disturbance [4], as well as
suicide [5]. For example, Horowitz et al. [3] warn clinicians of stress response syndrome. They predict that one
fifth of counselees who are notified that they are cancer
mutation carriers will develop symptoms of this syndrome, and they recommend evaluation and psychotherapy for those individuals.
Indeed, some studies have found reason for concern.
For example, Bonadona et al. [6] found distress reactions

Lea Hagoel, PhD

Department of Community Medicine and Epidemiology
Lady Davis Medical Center, 7 Michal Street
Haifa 34362 (Israel)
Tel. +972 4 8250265/8250474, Fax +972 4 8344358, E-Mail

among most of their interviewees. This finding is not limited to qualitative studies. Vernon et al. [7], using a standard and valid measure of depression, the Center for Epidemiologic Studies Depression Scale, found that 24% of
the participants experienced symptoms of depression, a
prevalence higher than that reported for the general adult
non institutionalized population. Subgroups of counselees were targeted as being at risk and characterized. This
finding of a higher risk of distress after counseling among
some subgroups was replicated in other studies [810].
Still, the overall picture in these studies is of a significant
decrease in distress following counseling or no adverse
effect [8, 9, 1113]. Gradually, investigators concluded
that early concerns of a mental health risk have not materialized [14]. Studies which compared the distress rate of
counselees in genetic clinics to primary medical care and
community samples [11, 15] found counselees to be no
different than community samples and less distressed
than those attending primary medical care.
The first review of studies on the consequences of predictive genetic information included 9 studies with varying designs ranging from case reports (the most frequent)
to prospective designs [16]. It called for more empirical
data and for the study of more culturally diverse populations. The second review [17] included 15 studies relating
to several genetic diseases. The authors concluded that
individuals undergoing predictive genetic testing do not
experience adverse psychological consequences. They report decreased distress among both carriers and noncarriers, and pointed out that test results were rarely predictive of distress 1 month following testing; these conclusions must be interpreted with caution considering that
the findings are based on diverse genetic diseases. The
authors call attention to the fact that the pretest emotional
state was often predictive of subsequent distress, and
hence advocated pretest assessment of emotional state in
order to identify individuals in need of customized counseling [17]. In their discussion, the authors note the
absence of studies reporting cognitive or behavioral outcomes and of studies following counselees for longer than
3 years. Similar results pertaining to the absence of longterm increased distress among persons receiving positive
test results are reported by Shaw et al. [18]. Their review is
based upon 54 studies addressing several genetic diseases,
including cancer.
The fourth review [2] included 12 studies focusing on
genetic counseling for breast/ovarian cancer susceptibility. In their meta-analysis, the authors found a significant
decrease in generalized anxiety and a trend towards statistical significance in the reduction of psychological dis-

tress. Again, the authors pointed out that most researchers

focused on generalized distress and anxiety and the accuracy of perceived risk to the exclusion of other types of
outcomes. They called for more comprehensive assessments. These assessments may comprise cognitive variables (thoughts and knowledge of cancer), behavioral outcomes (adherence to mammography and other preventative recommendations) and other psychological resources
that people have at their disposal and that may affect their
ability to cope [1, 2].
The present study attempts to address the limited types
of outcomes mainly studied thus far and to provide an
insight into the experience of being a cancer mutation carrier, i.e. living with susceptibility. The study examines
four groups of variables: womens health-related behaviors, their psychosocial resources, cognitive perceptions,
and distress.
Health behaviors were focused on because adverse psychological reactions such as depression and anxiety can
lead to difficulties in motivation, attention, concentration
and decision making [7]. Deficits in these areas, in turn,
have the potential to affect the process of disclosure as
well as subsequent health behaviors, for example adherence with medical follow-up recommendations, and selfcare in the domains of exercise, dieting and using sunscreen, among others. The other variables we looked at
are hypothesized to mediate the negative consequences of
stressful life events, i.e. social integration, religiosity and
sense of coherence. The latter concept refers to an individuals global orientation towards life: whether an individual feels that her/his environment (internal and external) is
predictable, explicable and structured; whether an individual has the resources to meet demands, and whether
these demands are perceived as worthy of investment and
engagement [19]. The cognitive variables we examined
were womens appraisal of their own health and their attitude towards early detection in general.
Living with susceptibility from the above aspects was
examined using three comparisons: (1) BRCA mutation
carriers were compared to noncarriers, (2) probands (individuals who initiated the process at the counseling service
for their family) were compared to nonprobands and
(3) cancer-affected individuals were compared to nonaffected individuals.
It may seem obvious that cancer-affected individuals
experience life differently than healthy individuals, making this comparison redundant. However, carrying out
this comparison illustrates the ability to detect statistically significant differences in this study.

Living with Susceptibility

Community Genet 2003;6:242248


Based on the previous finding of no mental health risk

following genetic counseling, we formed the following
hypotheses: (1) carriers and noncarriers would not be different in terms of distress; (2) this hypothesis was extended to the resource and cognitive variables; (3) carriers
and noncarriers would differ in their health behaviors,
with carriers adopting more health-promoting behaviors
(such as undergoing medical checkups, the use of sunscreen, etc.); (4) with respect to the second comparison,
we hypothesized probands to be similar to nonprobands
in terms of all the variables examined, as no published
work suggested any such difference, and (5) lastly, we
expected to find differences between cancer-affected and
healthy individuals in terms of their distress levels, as well
as with regard to cognitive appraisals, psychological resources and some of their health behaviors.

Participants and Methods

The data in this report were obtained from 165 women at the
Familial Cancer Counseling Service of the Clalit Health Services (the
largest HMO in Israel) National Cancer Control Center in Haifa,
Israel. Participants in this ongoing in-service study, which began in
2000, have either a personal and/or family history of breast/ovarian
cancer, and include members of families in which a BRCA1/2 mutation was identified. Exclusion criteria were (1) being at an advanced
stage of a disease, and (2) unable to speak, read and write in Hebrew.
Design and Procedure
The study design is cross-sectional, assessing participants following genetic counseling and testing. Individuals contact the Familial
Cancer Counseling Service. Initial counseling determines, for most
counselees, the need for genetic testing for one of the three BRCA1/2
Jewish Ashkenazi mutations (BRCA1 mutations 185delAG or
5382insC, BRCA2 mutation 6174delT), thus reducing the need to
search the whole gene. Those who are either Sephardi Jews, Arabs or
non-Arab Christians are also tested for these 3 mutations. Jews of
Yemenite or Iranian ancestry are tested for other specific mutations.
Along with the test results, individuals receive another genetic counseling session. They are later (46 weeks currently) contacted by
phone and invited to participate in this ongoing study. A self-administered questionnaire, to be retuned by mail, is then sent. The present
study relates to parts of this comprehensive medical follow-up questionnaire. The study was approved by the institutional review board
of the Carmel Medical Center (Helsinki Committee).
This work reports on the psychosocial parts of the questionnaire.
Sociodemographic Characteristics
Participants age, self-identified ethnic origin, education, employment and proband status (i.e. individuals who initiated contact with
the service, many of whom emphasize, in particular, their interest in
testing) were obtained.


Community Genet 2003;6:242248

Cancer History
Several questions regarding participants cancer history were
asked. A single variable was created, reflective of responses to several
items that indicated whether the participant reported a personal cancer history (of any type).
Distress was measured by two items monitoring concern from
past difficult life events or their consequences and from ongoing
stressful situations, phrased as follows: Are you currently disturbed
(1) because of difficult life events you underwent in the past or their
consequences, or (2) because of prolonged stressful situations?
Health Behaviors
Physical Activity. Participants were asked whether they regularly
engaged in a physical activity or not, and if they did, they were asked
about the number of hours per week they engaged in this activity.
Participants also indicated the type of activity they engaged in.
Use of Hormone Replacement Therapy. These items assessed
whether the woman ever used hormone replacement therapy or not,
and whether she currently uses it.
Medical Checkups. These items assessed whether the woman
underwent periodic dental, gynecological and general checkups, as
well as a clinical breast examination. Two composite variables were
created. In the first, all of the above items were summed and scores
ranged from 0 to 4. The second composite variable included the frequency of cancer-related checkups (gynecological and clinical breast
examinations), and scores ranged between 0 and 7.
Diet. These items related to a diet high in vegetables and fruits
and low in fat, sugar, salt and calories. Items were summed and
scores ranged from 0 to 5.
Smoking and Drinking Coffee and Alcohol. These consumptive
behaviors were monitored by several items, but were later excluded
from the analyses due to homogeneity in our sample.
Psychosocial Resources
Social Integration. Integration into the social fabric was measured
as ongoing and repeated contact with others. Participants reported
thirteen activities regularly carried out with family, friends, neighbors and coworkers. Activities included, for example, talking on the
phone, going out together, lending money, asking help in the case of
emergency and engaging in sports, among others. The number of
activities was summed across copartners and activities to create a
measure of social integration.
Sense of Coherence. The short version of the questionnaire was
used. An index was computed as the mean score of the 13 items. In
our data Cronbachs was 0.84.
Religiosity. Participants placed themselves along a continuum of
religiosity, ranging from secular to ultra-orthodox. The item was
dichotomized into secular/nonsecular due to a low number of religious respondents.
Cognitive Appraisal
Self-Rated Health. Participants were asked to compare their
health to that of others their age as being similar, better or worse.
Attitude towards Early Detection. A single item was used to monitor the respondents opinion towards undergoing medical checkups
when one feels healthy.


Analytic Strategy
Data analysis was conducted in two stages. First, descriptive statistics were generated for the demographic characteristics of the participants. Second, participants were compared along the three subgroupings, i.e. being a carrier, being a proband or being affected by
cancer, and the interaction between them. The comparisons were
conducted with regard to participants health behaviors, psychological resources, cognitive appraisals and stress. As part of the sample
included family members, we used the SAS procedures for correlated
data (version 8.2). Linear regression was used for continuous variables and logistic regression for dichotomous variables.


Characteristics of the Series

One hundred and ten of the women (66.7%) were carriers of one of the three known Ashkenazi BRCA1/2
mutations, and 55 (33.3%) were noncarriers, i.e. received
negative test results for all of the above three mutations.
Such negative test results have different meanings depending on family context (carrier status of other family
members). Of the above-mentioned 55 noncarriers, 17
belong to families in which an Ashkenazi mutation was
identified. Therefore, having received a negative test
result, they can be considered noncarriers. For the remaining 38, the carrier status of other family members is
unknown. Fifteen of these women were diagnosed with
breast cancer, and 23 were unaffected. Thus, these 23
women may be considered only seemingly noncarriers.
However, analyzing these subgroupings would involve
small group sizes, limiting our ability to demonstrate differences and to properly adjust for confounders.
One hundred and eleven of the women (67.3%) were
probands, and the remaining 54 women (32.7%) were
members of families in which a BRCA mutation was
identified. Seventy-eight women (47.3%) were affected by
breast/ovarian or another type of cancer, and 87 (52.7%)
were unaffected by cancer. As the women unaffected by
cancer were younger [mean (M) age = 45.6 years, SD 12.1
years] than women diagnosed with cancer (M = 54.4
years, SD 11.2 years; t(163) = 4.8, p ! 0.05), age was introduced as a covariate in all later analyses. Education was
also introduced as a covariate due to its correlation with a
host of dependent variables. Table 1 displays the distribution of participants into the different status groups. Table 1a displays cancer status by carrier and proband status, and table 1b displays carrier status by proband status.
Note that the categories of proband and carrier do not
overlap; slightly more than half of the probands are also
carriers (see also Hagoel et al. [21]).

Living with Susceptibility

Table 1. Participants (n = 165) status, i.e. carrier, proband or cancer

affected, and different groupings of study participants

a Cancer-affected participants by carrier and proband status

Affected by cancer




53 (48.2)
25 (45.5)

57 (51.8)
30 (54.5)

110 (66.7)
55 (33.3)


78 (47.3)

87 (52.7)

165 (100)


61 (54.9)
17 (31.5)

50 (45.0)
37 (68.5)

111 (67.3)
54 (32.7)


78 (47.3)

87 (52.7)

165 (100)




62 (55.9)
48 (88.9)

49 (44.1)
6 (11.1)

111 (67.3)
54 (32.7)

110 (66.7)

55 (33.3)

165 (100)

b Carriers by proband status



Figures in parentheses represent percentages.

The mean age of the women in the sample was 49.8

years (SD 12.5 years, range 1981 years). The majority
were Ashkenazi Jews (90.9%), employed (68.5%) and
with higher education (70.9%).
Comparison 1: Being a Carrier versus Being a
Carriers did not differ significantly from noncarriers
on any of the variables measured (p 1 0.05 in all). No
interaction with cancer status was found. Thus, hypotheses (1) and (2) were supported, and hypothesis (3) was not
supported by the data. Table 2, which includes two parts,
displays a three-way comparison: affected by cancer, carrier status and proband status. Table 2a includes continuous variables (means and SE, adjusted for education and
age), and table 2b includes the dichotomous ones [odds
ratio (OR) and 95% confidence interval (CI)].
Comparison 2: Being a Proband or Not
Being a proband also did not distinguish between participants on any of the variables, with the only exception

Community Genet 2003;6:242248


Table 2. A three-way comparison of cancer-affected status, carrier status and proband status according to health behaviors, psychosocial

resources, cognitive perceptions and distress

a Continuous variables

Grouping variable

Carrier status


Health behaviors
Physical activity (h)
2.80 (0.5)
Diet (no. of items, 05)
2.25 (0.19)
Medical checkups (04)
3.30 (0.09)
Cancer-related medical checkups (freq. 07) 4.96 (0.16)
Psychosocial resources
Sense of coherence index
4.63 (0.08)
Social integration (no. of activities)
20.45 (0.91)
Distress index (05)
1.85 (0.17)

Proband status

Affected by cancer





3.20 (0.6)
1.91 (024)
3.38 (0.11)
4.83 (0.2)

3.00 (0.5)
2.03 (0.19)
3.37 (0.09)
5.00 (0.16)

2.80 (0.67)
2.33 (0.25)
2.25 (0.12)
4.61 (0.22)

3.75 (0.54)
2.29 (0.21)
3.44 (0.1)
5.20 (0.17)

2.17 (0.54)*
1.97 (0.21)
3.23 (0.1)
4.60 (0.17)*

4.43 (0.11)
20.86 (1.33)
1.59 (0.22)

4.46 (0.09)
20.46 (0.94)
1.85 (0.18)

4.74 (0.11)*
20.79 (1.32)
1.63 (0.21)

4.45 (0.09)
20.13 (1.14)
1.97 (0.2)

4.73 (0.09)*
20.98 (1.06)
1.59 (0.18)

Results are shown as means (SE) adjusted for education and age. * p ^ 0.05.
b Dichotomous variables

Grouping variable
Health behaviors
HRT use (currently)
Psychosocial resources
Cognitive appraisal
Self-rated health
Attitude toward early detection1

Carrier status

Proband status

Affected by cancer

1.65 (0.515.21)

1.31 (0.414.22)

1.25 (0.413.82)

1.37 (0.523.60)

1.01 (0.442.32)

0.65 (0.281.49)

0.97 (0.442.13)
2.56 (0.798.25)

1.21 (0.522.81)
1.04 (0.333.25)

4.18 (1.839.54)*
1.04 (0.484.1)

Results are shown as OR (95% CI) adjusted for education and age. HRT = Hormone replacement therapy. * p ^ 0.05.
Adjusted for age only.

being the sense of coherence, where probands had a higher

sense of coherence (M = 4.46 and 4.74 for probands and
nonprobands, respectively; t(112) = 2.03, 95% CI 0.01
to 0.55, p ! 0.05) (table 2). Hypothesis (4) was supported by our data.
Comparison 3: Being Affected by Cancer or Not
Being affected by cancer made a difference. To begin
with, participants affected by cancer evaluated themselves, as expected, as less healthy than those not affected
by cancer (OR 4.2, 95% CI 1.89.5, p ! 0.01). In addition,
we observed a marginal trend of experiencing more
chronic stress. The difference was also manifested in their
health behaviors, where women affected by cancer underwent more medical checkups. Affected women exhibited
a trend (p ! 0.10) to undergo more medical checkups,
and, specifically, more frequently attended cancer-relat-


Community Genet 2003;6:242248

ed medical checkups (M = 5.2 and 4.6 for cancer-affected

individuals and nonaffected individuals, respectively;
t(148) = +2.63., 95% CI +0.14 to +1.01, p ! 0.05). The
difference in health behaviors was manifested also in the
proactive behavior of physical activity. Cancer-affected
women exercised more hours weekly (M = 3.75) than nonaffected women (M = 2.17) (t(160) = 2.37, 95% CI for
difference 0.262.90, p ! 0.05). Lastly, women who had
cancer differed from the others in that their sense of
coherence was lower (M = 4.45 and 4.73 for canceraffected individuals and nonaffected individuals, respectively; t(160) = 2.2., 95% CI 0.03 to 0.53, p ! 0.05).
No differences were found in their religiosity and social
ties. No interaction with cancer and proband status was
found. Thus, hypothesis (5) was largely supported by the


Being a carrier of BRCA1/2 mutation was shown to be

an experience not different from not being a carrier
among our participants. This finding pertains to a host of
variables behavioral, social and cognitive. The finding
of no adverse emotional effect supports previous literature [8, 9, 11, 13]. The present investigation expanded
this finding to additional life domains. The only previous
work suggesting such a direction is that of Wellisch et al.
[22]. They found that daughters of mothers with cancer
were no different to controls on an array of variables
(body image, psychological symptoms, coping style,
health knowledge). Their participants, however, were
members of at-risk families who lived with uncertainty
rather than individuals who already knew their carrier
status, as in our case. The lack of adverse effects in many
life domains is important for clinicians to know, as presymptomatic genetic testing is rapidly becoming a routine
clinical practice, less connected to research environments
which provide protective factors.
Several explanations can be offered for our finding,
including self-selection for approaching the service, previous awareness of at-risk status, coping mechanisms and
sample size. The primary explanation is self-selection.
Broadstock et al. [17] suggest that individuals who choose
testing are more resourceful and emotionally more robust
than others.
A second explanation relates to the awareness of pretest risk status; that is, service users already suspect they
are at increased risk on the basis of their family history,
and the testing provides resolution of the uncertainty [14,
17]. This relief from uncertainty is common to both carriers and noncarriers. Uncertainty is sometimes worse
than bad news. The resolution of the uncertainty obviously benefited those who found out that they are not at
increased risk for cancer. BRCA mutation carriers may
also have benefited, as the new information is accompanied by professional counseling that offers the possibility
of preventive action to decrease the risk (e.g. surveillance,
lifestyle modification). Indeed, Coyne et al. [23] found
that undergoing genetic testing was less distressing than
being a member of a high-risk family. It is possible that
among less well-informed individuals (not knowing their
at-risk status), a positive test result could induce adverse
psychological reactions [16].
The coping explanation for the lack of differences is
that individuals from at-risk families have already developed effective coping mechanisms, which are put into use
when they are faced with test results. Hence, knowing pos-

itively that they are predisposed to cancer changes little in

their lives.
The last explanation pertains to sample size. It assumes that individual studies may have low statistical
power due to their small sample size. This latter explanation is less likely in the present investigation where power
analysis revealed that the group sizes of 110 carriers and
55 noncarriers have adequate power (80% and above) to
detect group differences of medium and large effect size.
As defined by Cohen [24], a difference in group means of
0.5 SD and a difference in group proportions of between
20 and 25% are considered medium effect size.
The second hypothesis, that carriers health behaviors
are different from those of noncarriers, was not supported
by the data; that is, no significant differences were found
when controlling for age. This can be explained as reflecting the absence of a carrier status effect on proactive
health behaviors or the short time elapsing since disclosure. Adopting health behaviors constitutes a lifestyle
change [25], and it is possible that not enough time had
elapsed since test disclosure to bring about such a change.
It should be noted that adverse effects concerning cancerrelated health behaviors did not occur. The BRCA1/2
mutation carriers did not avoid experiences reminding
them of their susceptibility to cancer such as screening,
and noncarriers did not exhibit less vigilance about cancer
surveillance (see also Bredart et al. [16]).
The findings of the present study are limited by its
design and time frame. The cross-sectional design does
not allow the conclusion that predictive genetic testing
has no adverse effect, as there was no pretest comparison;
it only supports the conclusion that carriers are not different from noncarriers at a particular time point and for the
outcomes measured. As regards the time frame, no data
on the long-term effects of carrier status are available.
This limitation is common to most studies related to
breast/ovarian cancer, as genetic testing services have
only been available for a few years. Information on the
effects of genetic counseling in Huntingtons disease,
which has been available for longer, indicates that carriers
do not become more or less distressed over time [26]. This
offers hope that the same applies to counselees for breast/
ovarian cancer, and that it applies to the life domains
measured in this study. The investigation of the long-term
effects of genetic disclosure remains for the future.
A second limitation, shared by all studies on the effects
of presymptomatic genetic testing, is self-selection. As
mentioned above, counselees attending the service are
highly aware of their risk status and are possibly more
resourceful. Unfortunately, we do not have access to those

Living with Susceptibility

Community Genet 2003;6:242248



women who declined the service, and we have reason to

believe they have high levels of cancer-related stress [27].
However, the unique characteristics of our participants
do not make studying them redundant; their condition
and concerns are of interest and need to be addressed.
A third limitation of the present study is that its population consisted of women only. Men also harbor the
BRCA1 and BRCA2 mutation, yet they are understudied
[28]. Our clinic has provided services to very few men,
who were not included in the current study. Future studies could amend this deficiency.

Our final conclusion, based on our and previous work,

is that knowing ones carrier status is not associated with
health-related behaviors, psychosocial resources and cognitive perceptions.

This study was supported by the Israel Cancer Association.

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