Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations

Abstract

Mutation analysis of the BRCA1 and BRCA2 genes has become widely available to hereditary breast and ovarian cancer families (HBOC) or breast-cancer-only families (HBC) in North America and Europe. To date, hundreds of these families have been identified with BRCA mutations and the majority has received counselling regarding the test results. Follow-up care of mutation carriers has focused on cancer surveillance and surgical options (Burke et al, 1997). However, little is known about the impact carrier status has on the development of depression, or the resulting changes in the individual's body image (Lerman et al, 1996Croyle et al, 1997;Lynch et al, 1997). In the Lerman et al (1996) study population, 18% stated their intent to undergo prophylactic mastectomy (PM) and 33% stated their intent to under prophylactic oophorectomy (PO). The motivational issues involved in deciding for or against prophylactic surgery, however, still await detailed study. Similarly, hardly anything is known about the feelings associated with this decision or their effect on the individual's quality of life in general.The major aim of this study was to study the attitude of mutation carriers in regard to PM and PO. Furthermore, it assessed the short-term effect of knowledge about carrier status on the occurrence of depression. PATIENTS AND METHODS Study populationA total of 138 individuals, from 35 families, that had been selected and counselled through the genetic counselling service of the Division of Senology, University of Vienna, were enrolled on the basis of previously detected BRCA1 or BRCA2 mutations. None of the family members had received the results of the BRCA testing. All individuals who requested their results were informed about this study. Family members who elected to participate gave their written consent. Prior to mutation result disclosure and counselling study participants received the first questionnaire of this study. The sequence in which the various elements of the survey were conducted is depicted in Figure 1.All female mutation carriers are examined every 6 months for the purposes of cancer surveillance and psychosocial follow-up. The observation period for this study began in January 1996 and is currently still being continued. This study was approved by the University of Vienna Institutional Review Board. Attitude of mutation carriers towards the option of PM and/or POFemale mutation carriers received a questionnaire comprising 12 items concerning PM and 11 items concerning PO to be rated on a five-point scale. Since the relevant literature does not provide a standardized questionnaire on this subject, two special questionnaires were developed on the basis of past conversations with SummaryThe intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were giv...

Willingness to accept preventive bilateral mastectomy among women in rural and urban communities in South-Western Nigeria

“…This is in agreement with findings from a study conducted among Austrian women at high risk in which about three in ten (29%) considered preventive mastectomy. 17 About half (49.1%) of respondents in urban areas who were willing to accept preventive bilateral mastectomy had a higher knowledge, higher educational attainment, self-perceived risk compared with those in rural areas. This may partly be explained by better knowledge, awareness and access to information on breast cancer including its risk factors among respondents in urban areas compared to rural areas.…”

Intratumoral IGF-I protein expression is selectively upregulated in breast cancer patients with BRCA1/2 mutations

“…Cases with weak (1C), moderate (2C), or strong (3C) staining intensities were considered to have an elevated expression of IGF-I and/or IGF-IR and were considered 'positive'. BRCA 1/2 status was determined as described previously (Wagner et al 2000).…”

Prophylactic bilateral mastectomy

“…[7][8][9][10][11][12][13] The acceptance of prophylactic mastectomy varies significantly among countries. A study from The Netherlands reported an uptake rate of 51% for BRCA1 and BRCA2 mutation carriers.…”

“…Several international studies have been conducted to measure the interest in and uptake rate of prophylactic mastectomy in high-risk women. [7][8][9][10][11][12][13] Rates of uptake among BRCA1 and BRCA2 mutation carriers vary from 3% 13 to 51%. 11 The popularity of prophylactic mastectomy seems to be dependent on the country, suggesting marked cultural variation.…”