Breast Disease

Breast cancer is a rare disease in young women, yet is the leading cause of cancer deaths in all ethnic groups in the United States and many parts of the world. The epidemiology for breast cancer in young women is reviewed, focusing on women under 40, prior to the recommended screening age. Specific age comparison groups used and results for young women vary in the literature, yet there are some common results. Young women have low incidence rates of breast cancer compared to older women. However, cancer incidence increases at a faster rate with increasing age in young women. Their cancers tend to be larger and higher grade with poorer prognostic characteristics, resulting in a higher risk of recurrence and death from breast cancer when compared to older women. Many of the usual risk factors for breast cancer in older women also increase risk in younger women including increasing age, Black race, family history, later age at first birth and menarche, radiation exposure and lack of physical activity. Risk factors that have specific relevance to young women include reproductive factors, history of induced abortion or miscarriage, oral contraceptive use, smoking, and radiation exposure, most specifically for treatment of Hodgkin Disease.

Many epidemiologic studies have demonstrated that younger women with breast cancer have a worse survival than older women, which may potentially be related to more aggressive tumor biology. Despite aggressive treatment, local and distant failure rates are higher. This review examines the studies that have investigated whether young age at diagnosis is associated with biologically more aggressive cancers for young women with invasive breast cancer, ductal carcinoma in situ, BRCA 1 and 2 mutations, and breast cancer during pregnancy. Young women with breast cancer are more likely to present with higher stage than their older counterparts. Their tumors are more likely to be estrogen receptor-negative, higher grade, and have increased LVI, Ki-67, and p53; yet most studies show no difference in HER-2/neu expression between younger and older women. Recent advances in molecular biology have shown that lymph node negative, estrogen receptor-positive young women are more likely than older women to have a higher Recurrence Score™ and therefore a worse prognosis. Molecular profiling has also revealed that young African-American women with breast cancer are more likely to have the more aggressive basal type of breast cancer, which may contribute to their worse prognosis compared to young white women.

While many individual risk factors have been defined for breast cancer, a family history was recognized long ago as one of the most potent. Mutations within BRCA1 or BRCA2, both identified about 10 years ago, are responsible for the majority of inherited breast cancer. By virtue of her age alone, a young woman diagnosed with breast cancer has a greatly elevated probability to carry a BRCA mutation. Other risk factors, including a personal or family history of ovarian cancer, bilateral breast cancer or Jewish ancestry, only serve to increase that chance. It is critical that clinicians caring for a young woman understand their patient's elevated risk to carry such a mutation and thoughtfully investigate this risk. Upon identification of a mutation in a young woman there are many consequences which necessitate careful consideration of various treatment and preventative options including prophylactic mastectomy and oophorectomy. Finally, the diagnosis of breast cancer in a young woman and the attendant genetic implications have immediate and serious consequences for her family members. Genetic professionals can help navigate the complex technical and psychosocial issues. This chapter explores the molecular, clinical and ethical intricacies of BRCA genetic testing.

Young women who carry a BRCA mutation face difficult decisions regarding radiologic screening modalities and prophylactic surgery. Decisions regarding these choices may have short and/or long-term consequences and significant impacts on breast cancer risk. A comprehensive review of currently available data supports the following recommendations for young women with BRCA mutations: perform monthly self breast exam, obtain clinical breast exam 2–4 times per year, discuss annual imaging options with a breast specialist, complete child-bearing by 35 with subsequent prophylactic oopherectomy, avoid hormone replacement therapy, and consider prophylactic mastectomy.

The diagnosis of breast cancer in young women presents particular challenges in surgical decision making and treatment. These challenges arise from concurrent genetic or other risk factors, potentially more aggressive tumor biology, larger tumor size, and psychosocial factors unique to young women. Local recurrence and survival rates for breast-conserving surgery compared to mastectomy are reviewed and strategies for reducing local recurrence after breast conserving therapy are discussed. Options for incorporating genetic testing and counseling into surgical management are presented. Management of young women with BRCA gene mutations, with a positive family history without a risk gene mutation, and with a history of mantle irradiation for Hodgkin's disease is discussed.

Young women with breast cancer differ from older women in a number of ways that may affect their experience with breast reconstruction after mastectomy. Parenting, work, or recreational activities may influence a young woman's decisions about whether or not to have reconstruction, timing of reconstruction, and type of reconstruction. Young women with breast cancer are known to experience greater psychological morbidity and poorer quality of life than older women. A young woman's breast anatomy and physiology and overall medical condition generally allow more reconstructive options. Young women can often tolerate autologous reconstruction well, and more young women are expressing interest in perforator-based free tissue transfer to reduce donor site morbidity. Although the reconstructive issues are different for younger women, outcomes of breast reconstruction appear to be the same for women of all ages.

Radiotherapy (RT) to the breast or chest wall of young women is associated with long-term cardiotoxicity and an increased risk of secondary breast cancers. As many patients with early stage breast cancer and Hodgkin's disease are cured of their disease, there is significant concern regarding the long term risks of therapy. Older RT techniques for treating the breast/chest wall and draining lymph nodes for breast cancer resulted in a relatively high dose being delivered to a substantial volume of heart, and convincing evidence exists of excess cardiovascular morbidity and mortality in patients treated with these techniques. While modern RT techniques have reduced radiation exposure to the heart, they have not eliminated it. Many large studies of Hodgkin's disease survivors have demonstrated a clear risk of secondary breast cancer development after mantle RT for Hodgkin's disease. The risk of developing breast cancer after mantle RT appears to be related to age at time of irradiation, dose delivered to the breast tissue, and whether or not chemotherapy is incorporated into the overall treatment plan. In this article we review late cardiac complications associated with tangential breast RT and the risk of developing a secondary breast cancer after mantle RT for Hodgkin's disease.

About a third of all newly diagnosed breast cancers occur in women under the age of 50 [1,2]. Young women face many of the same adjuvant treatment issues that their postmenopausal counterparts encounter. Unfortunately, they also experience issues that are unique to their age, their hormonal status, and their longer life expectancy. We will examine the issues regarding cytotoxic and biologic therapy as well as the controversies regarding optimal endocrine and chemoendocrine therapy in the premenopausal woman, and we will explore some of the survivorship issues faced by young women after breast cancer therapy.

Nearly 25% of individuals diagnosed with breast cancer will be pre-menopausal women. As maternal age of first birth has risen in the United States, more females are being treated for breast cancer prior to child-bearing. Although surgery and radiation therapy appear to have no impact on future fertility, young women should be aware of the impact that systemic chemotherapy may have on ovarian function, as well as on future offspring. As regards survival, despite a link between female sex hormones and mammary carcinogenesis, the fear that pregnancy subsequent to breast cancer treatment would result in activation of dormant micrometastases has not been demonstrated in the literature. Published series have, in fact, shown either no impact on survival or a slightly protective effect when women deliver after breast cancer treatment. Although these studies are retrospective in nature and may be prone to selection bias and under-reporting of the true denominator, they can at a minimum be used to reassure women that a subsequent pregnancy is unlikely to have a negative impact on her survival.

As the average age of parity increases amongst American women, the incidence of pregnancy associated breast cancer is also rising. The physiologic changes of the breast in pregnancy must be appreciated and understood in order to accurately and expeditiously diagnose pregnancy associated breast cancer (PABC). Core biopsy provides the safest and most accurate diagnostic tool. Once a diagnosis is made, risks and benefits to both the mother and the fetus must be considered prior to accepting a definitive management strategy. Historically women with PABC were encouraged to undergo modified radical mastectomy and to terminate pregnancy in order to safely proceed with adequate adjuvant therapy. Current care, however, relies upon multimodality therapy directed by multidisciplinary teams. PABC diagnosed early in the first trimester is best managed surgically by modified radical mastectomy followed by adjuvant chemotherapy in the second trimester. Women diagnosed in the late first, or the second or third trimesters may be safely treated with the surgical techniques of their choosing. Neoadjuvant chemotherapy, sentinel node biopsy and breast conservation are now considered safe modalities in properly chosen pregnant patients.

Breast cancers diagnosed during pregnancy and lactation typically have an aggressive phenotype and an advanced stage at presentation. The timing of treatment modalities in pregnant women is complex and requires multidisciplinary input. Alternatives which are relatively safe for both mother and fetus are available, though unforeseen risks may exist. Chemotherapy is not thought to be safe for a fetus during the first trimester; however, in women with high risk cancers, treatment should not be delayed. Thereafter, anthracycline based chemotherapy has a low incidence of fetal complications. Little evidence beyond case reports exists for taxanes or tamoxifen in pregnancy, and less is available regarding the safety of novel molecularly targeted therapeutics such as trastuzumab. The prognosis of breast cancer diagnosed during pregnancy and lactation is poor, largely because of advanced stage and aggressive phenotype; it is unclear whether pregnancy is an independent prognostic marker for poor outcome.

The current paper reviews the literature regarding psychosocial issues confronting young women with breast cancer. The findings indicate that younger women with breast cancer experience a lower quality of life after cancer compared to older women. In part, this lower quality of life results from the effects of medical treatment. The effects of surgery and removal of the breast result in more negative feelings regarding body image, particularly for young women. With systemic treatment, many younger women experience the sudden onset of menopause, with the attendant symptoms of hot flashes, decreased sexual desire, and vaginal dryness. These physical effects along with a variety of relationship issues contribute to a high level of sexual concerns for young women. From a psychosocial perspective, breast cancer affects both females and their male partners. Both partners experience psychological distress including depression and anxiety. Within the relationship, emotional support from the partner is important in women's adjustment. In terms of psychosocial interventions for breast cancer, findings suggest that the most frequently employed interventions, which treat the woman without her partner, are not optimal. Initial findings provide encouraging evidence that couple-based psychosocial interventions for women and their partners might be of particular assistance to both partners.

Breast Cancer is the leading cause of cancer death in women age 40–55. Of the 215,990 new cases identified in 2004, 7% of patients are less that 40, with 2.5% age 35 and younger. Young women may present with biologically more aggressive tumors, translating into a more unfavorable prognosis. In general, the traditional nursing contributions to the care of women with breast cancer are limited to the specific practice domains within surgery, medical and radiation oncology. Identifying the unique aspects of nursing care for this group will have special emphasis on age specific developmental tasks for these women. These tasks include: finding a mate, starting a family, managing a household, professional development and finding a social network within society. Interference of these tasks by the treatments for breast cancer is seen not only in the physical changes of body image and fertility, but in the psychosocial areas that impact cognitive functioning and coping with the threats of the disease as they strive towards survivorship. The advanced practice role of the nurse practitioner in the care of young women with breast cancer is characteristically poised to integrate and synthesize all aspects of breast cancer management.