Ardern-Jones A, Kenen R, Eeles R
The Royal Marsden NHS Foundation Trust, Sutton, Surrey SM2 5PT, UK.
Eur J Cancer Care (Engl). 2005 Jul;14(3):272-81. doi: 10.1111/j.1365-2354.2005.00574.x.
Recent research suggests that women who develop breast cancer between the ages of 30-34 may have specific tumour characteristics: Those with high grade, oestrogen receptor negative, human epidermal growth factor receptor 2 (HER-2) negative tumours have between a 10% and 27% chance of being a BRCA1 gene carrier. Carriers of BRCA1 and BRCA2 mutations have an increased risk of contralateral breast cancer and cancer of the ovary. Furthermore, recent research indicates that prophylactic mastectomy and/or oophorectomy offer a significant risk reduction in the development of breast/ovarian cancer. In the near future, women in the UK may be offered the choice of a genetic test close to the time of diagnosis. This timing not only provides additional dimensions to treatment decisions, but has psycho-social and familial implications as well. This exploratory study investigates, first, whether or not women diagnosed with breast cancer under the age of 40 would want to be offered information about genetic testing close to the time of their diagnosis. Then secondly, it explores whether the health care professionals treating them support this idea. Third, it highlights the reasons for the women and the health professionals perspectives and concerns. We held focus groups of 13 women who had their only, or first, breast cancer under the age of 40 and who were subsequently identified as BRCA1 or BRCA2 mutation carriers, asking them how they felt about this timing. We also interviewed 17 health care professionals involved in various aspect of breast cancer care and cancer genetics. The majority of former breast cancer women and professionals believed that there was already emotional overload in coping with the cancer diagnosis and decisions regarding existing cancer treatment options and that offering genetic testing would add too much additional stress. Some members of both groups, however, thought that offering genetic testing around the time of breast cancer diagnosis would be more important if the results could alter treatment decisions.
近期研究表明，30至34岁患乳腺癌的女性可能具有特定的肿瘤特征：那些患有高级别、雌激素受体阴性、人表皮生长因子受体2（HER-2）阴性肿瘤的女性，有10%至27%的几率是BRCA1基因携带者。BRCA1和BRCA2基因突变携带者患对侧乳腺癌和卵巢癌的风险增加。此外，近期研究表明，预防性乳房切除术和/或卵巢切除术可显著降低患乳腺癌/卵巢癌的风险。在不久的将来，英国女性在确诊时可能会有基因检测的选择。这个时机不仅为治疗决策提供了更多维度，也具有心理社会和家庭方面的影响。这项探索性研究首先调查40岁以下被诊断为乳腺癌的女性是否希望在确诊时获得有关基因检测的信息。其次，研究探讨治疗她们的医疗保健专业人员是否支持这一想法。第三，突出女性和医疗专业人员观点及担忧的原因。我们组织了焦点小组，其中有13名40岁以下首次患乳腺癌且随后被确定为BRCA1或BRCA2突变携带者的女性，询问她们对这个时机的感受。我们还采访了17名参与乳腺癌护理和癌症遗传学各个方面的医疗保健专业人员。大多数曾患乳腺癌的女性和专业人员认为应对癌症诊断以及现有癌症治疗方案的决策已经造成了情感负担，而提供基因检测会增加过多额外压力。然而两组中的一些成员认为，如果基因检测结果能够改变治疗决策，那么在乳腺癌诊断时提供检测会更重要。
