As Time Goes By: The Long-Term Psychological Impact of either Regular Surveillance or Prophylactic Mastectomy in Women at Risk for Hereditary Breast Cancer

Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death in women worldwide. In the Netherlands, approximately 13000 new breast cancer cases are diagnosed annually, mostly occurring in women older than 50 years. In total 12-13% (one in eight) of the women in the Netherlands will be diagnosed with breast cancer during lifetime, and population screening for breast cancer therefore is being offered to women as of 50 years of age. While the population risk of ovarian cancer is 1.5% in the Netherlands, population screening is not offered. It is estimated that 5-10% of all cancer cases are due to a genetic predisposition. One of the first recognised entities was the clustering of breast and/or ovarian cancer in families. A strong family history of breast (and/or ovarian) cancer in combination with family members affected at a young age (below 50 years of age) may be suggestive of a cancer susceptibility gene in the family. As of the beginning of the nineteen nineties it became possible for women from families with clustering of breast (and/or ovarian) cancer cases to opt for genetic counselling and testing, and subsequently to receive a personal life time risk estimation. Depending on the risk estimation, decisions have to be made for either regular surveillance or prophylactic surgery. Both options are associated with pros and cons regarding on the one hand anxiety that cancer might develop or be detected (at an advanced stage) during surveillance versus on the other hand irreversible consequences after preventive surgery of either breasts and/or ovaries, potentially affecting physical and psychological functioning. As of the beginning of the availability of genetic testing, it became clear that more data on the (dis)advantages of the different strategies was needed. More knowledge about the psychosocial consequences of adhering to regular surveillance as well as prophylactic mastectomy and/or salpingo-ovariectomy was essential, in order to adequately inform and support women considering these options. In 1999, two studies were initiated at the Erasmus University Medical Centre-Daniel den

Genetic testing for Lynch syndrome: family communication and motivation

Current genetic counselling practice for Lynch syndrome (LS) relies on diagnosed index patients to inform their biological family about LS, referred to as the family-mediated approach. The objective of this study was to evaluate this approach and to identify factors influencing the uptake of genetic testing for LS. In 59 mutation carriers, 70 non carriers and 16 non-tested relatives socio-demographic characteristics, family communication regarding LS, experiences and attitudes towards the family-mediated approach and motivations for genetic testing, were assessed. The majority of all respondents (73 %) were satisfied with the family-mediated approach. Nevertheless, 59 % of the respondents experienced informing a family member and 57 % being informed by a family member as burdensome. Non-tested differed from tested respondents, in that they were younger, less closely related to the index patient and a lower proportion had children. The most important reasons for declining genetic testing were (1) anticipating problems with life insurance and mortgage, (

Bone mineral density increases in trans persons after 1 year of hormonal treatment : a multicenter prospective observational study

Sex steroids are important determinants of bone acquisition and bone homeostasis. Cross-sex hormonal treatment (CHT) in transgender persons can affect bone mineral density (BMD). The aim of this study was to investigate in a prospective observational multicenter study the first-year effects of CHT on BMD in transgender persons. A total of 231 transwomen and 199 transmen were included who completed the first year of CHT. Transwomen were treated with cyproterone acetate and oral or transdermal estradiol; transmen received transdermal or intramuscular testosterone. A dual-energy X-ray absorptiometry (DXA) was performed to measure lumbar spine (LS), total hip (TH), and femoral neck (FN) BMD before and after 1 year of CHT. In transwomen, an increase in LS (+3.67%, 95% confidence interval [CI] 3.20 to 4.13%, p < 0.001), TH (+0.97%, 95% CI 0.62 to 1.31%, p < 0.001), and FN (+1.86%, 95% CI 1.41 to 2.31%, p < 0.001) BMD was found. In transmen, TH BMD increased after 1 year of CHT (+1.04%, 95% CI 0.64 to 1.44%, p < 0.001). No changes were observed in FN BMD (–0.46%, 95% CI –1.07 to 0.16%, p = 0.144). The increase in LS BMD was larger in transmen aged ≥50 years (+4.32%, 95% CI 2.28 to 6.36%, p = 0.001) compared with transmen aged <50 years (+0.68%, 95% CI 0.19 to 1.17%, p = 0.007). In conclusion, BMD increased in transgender persons after 1 year of CHT. In transmen of postmenopausal age, the LS BMD increased more than in younger transmen, which may lead to the hypothesis that the increase in BMD in transmen is the result of the aromatization of testosterone to estradiol

How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience

Predictive genetic testing for familial adenomatous polyposis (FAP) is routinely offered to children at-risk from the age of 10 years onwards. Predictive testing for FAP at a younger age is debatable, because of absence of medical benefits. However, circumstances may arise when testing at a younger age (< 10 years) is appropriate. Currently, there is a lack of published experience with predictive testing of children at this young age. We evaluated 13 children who were tested for FAP at the age younger than 10 years; 7 mutation-carriers and 6 non-carriers. Parents of these children were re-contacted and open-ended semi-structured interviewed. None of the contacted parents regretted the timing of genetic testing. The major reasons for testing at the young age were (1) testing of all children in the family at the same moment; (2) certainty for the future; and (3) preparing the child for future surveillance. None of the parents observed changes in mental or physical health in their child after testing. Also, young genetic testing did not lead to colon surveillance before it was indicated. Genetic testing for FAP at a young age is experienced as causing no harm by parents. Future studies should evaluate children's own experiences with early genetic testing

Psychological distress in women at risk for hereditary breast cancer: the role of family communication and perceived social support

Background: Hereditary breast cancer has a profound impact on individual family members and on their mutual communication and interactions. The way at-risk women cope with the threat of hereditary breast cancer may depend on the quality of family communication about hereditary breast cancer and on the perceived social support from family and friends. Objective: To examine the associations of family communication and social support with long-term psychological distress in a group of women at risk for hereditary breast cancer, who opted either for regular breast surveillance or prophylactic surgery. Methods: The study cohort consisted of 222 women at risk for hereditary breast cancer, who previously participated in a study on the psychological consequences of either regular breast cancer surveillance or prophylactic surgery. General and breast cancer specific distress, hereditary cancer-related family communication, perceived social support, and demographics were assessed. Results: Using structural equation modelling, we found that open communication about hereditary cancer within the family was associated with less general and breast cancer specific distress. In addition, perceived support from family and friends was indirectly associated with less general and breast cancer-specific distress through open communication within the family. Discussion: These findings indicate that family communication and perceived social support from friends and family are of paramount importance in the long-term adaptation to being at risk for hereditary breast cancer. Attention for these issues needs to be incorporated in the care of women at risk for hereditary breast cancer. Copyright (C) 2010 John Wiley & Sons, Ltd