Breast cancer screening refers to testing otherwise-healthy women for breast cancer in an attempt to achieve an earlier diagnosis under the assumption that early detection will improve outcomes. A number of screening tests have been employed including clinical and self breast exams, mammography, genetic screening, ultrasound, and magnetic resonance imaging.

A clinical or self breast exam involves feeling the breast for lumps or other abnormalities. Clinical breast exams are performed by health care providers, while self-breast exams are performed by the person themselves. Evidence does not support the effectiveness of either type of breast exam, as by the time a lump is large enough to be found it is likely to have been growing for several years and thus soon be large enough to be found without an exam. Mammographic screening for breast cancer uses X-rays to examine the breast for any uncharacteristic masses or lumps. During a screening, the breast is compressed and a technician takes photos from multiple angles. A general mammogram takes photos of the entire breast, while a diagnostic mammogram focuses on a specific lump or area of concern.

A number of national bodies recommend breast cancer screening. For the average woman, the U.S. Preventive Services Task Force recommends mammography every two years in women between the ages of 50 and 74, the Council of Europe recommends mammography between 50 and 69 with most programs using a 2-year frequency, and in Canada screening is recommended between the ages of 50 and 74 at a frequency of 2 to 3 years. These task force reports point out that in addition to unnecessary surgery and anxiety, the risks of more frequent mammograms include a small but significant increase in breast cancer induced by radiation.

The Cochrane collaboration (2013) states that the best quality evidence neither demonstrates a reduction in cancer specific, nor a reduction in all cause mortality from screening mammography. When less rigorous trials are added to the analysis there is a reduction in mortality due to breast cancer of 0.05% (a decrease of 1 in 2000 deaths from breast cancer over 10 years or a relative decrease of 15% from breast cancer). Screening over 10 years results in a 30% increase in rates of over-diagnosis and over-treatment (3 to 14 per 1000) and more than half will have at least one falsely positive test. This has resulted in the view that it is not clear whether mammography screening does more good or harm. Cochrane states that, due to recent improvements in breast cancer treatment, and the risks of false positives from breast cancer screening leading to unnecessary treatment, "it therefore no longer seems beneficial to attend for breast cancer screening" at any age. Whether MRI as a screening method has greater harms or benefits when compared to standard mammography is not known.

The selective estrogen receptor modulators (such as tamoxifen) reduce the risk of breast cancer but increase the risk of thromboembolism and endometrial cancer. There is no overall change in the risk of death. They are thus not recommended for the prevention of breast cancer in women at average risk but may be offered for those at high risk. The benefit of breast cancer reduction continues for at least five years after stopping a course of treatment with these medications.

The U.S. Preventive Services Task Force (USPSTF) issues recommendations for various cancers:

- Strongly recommends cervical cancer screening in women who are sexually active and have a cervix at least until the age of 65.

- Recommend that Americans be screened for colorectal cancer via fecal occult blood testing, sigmoidoscopy, or colonoscopy starting at age 50 until age 75.

- Evidence is insufficient to recommend for or against screening for skin cancer, oral cancer, lung cancer, or prostate cancer in men under 75.

- Routine screening is not recommended for bladder cancer, testicular cancer, ovarian cancer, pancreatic cancer, or prostate cancer.

- Recommends mammography for breast cancer screening every two years from ages 50–74, but does not recommend either breast self-examination or clinical breast examination. A 2013 Cochrane review concluded that breast cancer screening by mammography had no effect in reducing mortality because of overdiagnosis and overtreatment.

Screens for gastric cancer using photofluorography due to the high incidence there.

Typically self-examination leads to the detection of a lump in the breast which requires further investigation. Other less common symptoms include nipple discharge, nipple retraction. swelling of the breast, or a skin lesion such as an ulcer. Ultrasound and mammography may be used for its further definition. The lump can be examined either by a needle biopsy where a thin needle is placed into the lump to extract some tissue or by an excisional biopsy where under local anesthesia a small skin cut is made and the lump is removed. Not all palpable lesions in the male breast are cancerous, for instance a biopsy may reveal a benign fibroadenoma. In a larger study from Finland the average size of a male breast cancer lesion was 1.8 cm. Beside the histologic examination estrogen and progesterone receptor studies are performed. Further, the HER2 test is used to check for a growth factor protein. Its activity can be increased in active cancer cells and helps determine if monoclonal antibody therapy (i.e. Trastuzumab) may be useful.

Male breast cancer can recur locally after therapy, or can become metastatic.

In addition to TNM staging surgical staging for breast cancer is used; it is the same as in female breast cancer and facilitates treatment and analysis.

Triple-negative breast cancer accounts for approximately 15%-25% of all breast cancer cases. The overall proportion of TNBC is very similar in all age groups. Younger women have a higher rate of basal or BRCA related TNBC while older women have a higher proportion of apocrine, normal-like and rare subtypes including neuroendocrine TNBC.

Among younger women, African American and Hispanic women have a higher risk of TNBC, with African Americans facing worse prognosis than other ethnic groups.

In 2009, a case-control study of 187 triple-negative breast cancer patients described a 2.5 increased risk for triple-negative breast cancer in women who used oral contraceptives (OCs) for more than one year compared to women who used OCs for less than one year or never. The increased risk for triple-negative breast cancer was 4.2 among women 40 years of age or younger who used OCs for more than one year, while there was no increased risk for women between the ages of 41 and 45. Also, as duration of OC use increased, triple-negative breast cancer risk increased.

80% of cases in the United States are diagnosed by mammography screening.

The only reliable method of diagnosis is full-thickness skin biopsy. Mammography, MRI or ultrasound often show suspicious signs; however in a significant proportion of cases they would miss a diagnosis.

Clinical presentation is typical only in 50-75% of cases; and many other conditions such as mastitis or even heart insufficiency can mimic the typical symptoms of Inflammatory Breast Cancer.

Temporary regression or fluctuation of symptoms, spontaneous or in response to conventional treatment or hormonal events should not be considered of any significance in diagnosis. Treatment with antibiotics or progesterone have been observed to cause a temporary regression of symptoms in some cases.

Staging is designed to help organize the different treatment plans and to understand the prognosis better. Staging for IBC has been adapted to meet the specific characteristics of the disease. IBC is typically diagnosed in one of these stages:

- Stage IIIB - at least 1/3 of the skin of the breast is affected, and may have spread to tissues near the breast, such as the skin or chest wall, including the ribs and muscles in the chest. The cancer may have spread to lymph nodes within the breast or under the arm.

- Stage IIIC - N3 nodal involvement with an inflamed breast will upgrade the disease from Stage IIIB to Stage IIIC.

- Stage IV means that the cancer has spread to other organs. These can include the bones, lungs, liver, and/or brain.

Several tests are used to diagnose vaginal cancer, including:

- Physical exam and history

- Pelvic exam

- Pap smear

- Biopsy

- Colposcopy

Recommendations for women with vaginal cancer is not to have routine surveillance imaging to monitor the cancer unless they have new symptoms or rising tumor markers. Imaging without these indications is discouraged because it is unlikely to detect a recurrence or improve survival, and because it has its own costs and side effects. MRI provides visualization of the extent of vaginal cancer.

Prevention

In the detection of bone metastases, skeletal scintigraphy (bone scan) is very sensitive and is recommended as the first imaging study in asymptomatic individuals with suspected breast-cancer metastases. X-ray radiography is recommended if there is abnormal radionuclide uptake from the bone scan and in assessing the risk of pathological fractures, and is recommended as the initial imaging study in patients with bone pain. MRI or the combination PET-CT may be considered for cases of abnormal radionuclide uptake on bone scan, when radiography does not give an acceptably clear result.

A meta analysis of cohort studies of alcohol consumption and breast cancer mortality showed no association between alcohol consumption before or after breast cancer diagnosis and recurrence after treatment.

Treatment and survival is determined, to a great extent, by whether or not a cancer remains localized or spreads to other locations in the body. If the cancer metastasizes to other tissues or organs it usually dramatically increases a patient's likelihood of death. Some cancers—such as some forms of leukemia, a cancer of the blood, or malignancies in the brain—can kill without spreading at all.

Once a cancer has metastasized it may still be treated with radiosurgery, chemotherapy, radiation therapy, biological therapy, hormone therapy, surgery, or a combination of these interventions ("multimodal therapy"). The choice of treatment depends on a large number of factors, including the type of primary cancer, the size and location of the metastases, the patient's age and general health, and the types of treatments used previously. In patients diagnosed with CUP it is often still possible to treat the disease even when the primary tumor cannot be located.

Current treatments are rarely able to cure metastatic cancer though some tumors, such as testicular cancer and thyroid cancer, are usually curable.

Palliative care, care aimed at improving the quality of life of people with major illness, has been recommended as part of management programs for metastasis.

Clinically symptomatic CNS metastases are reported in 10–15% of patients with metastatic breast cancer; in large autopsy studies, up to 40% of women who died of metastatic breast cancer were reported to have at least one brain metastasis. CNS metastases are often viewed by patients and doctors as a late complication of metastatic breast cancer for which few effective treatments exist. In most cases, CNS involvement occurs after metastatic dissemination to the bones, liver and/or lungs has already occurred; for that reason, many patients already have refractory, terminal breast cancer by the time they are diagnosed with brain metastases. The diagnosis of brain metastases from breast cancer relies mainly on patient-reported symptoms and neuroimaging. The role of imaging in patients with suspected brain metastases is a very good modality to aid in diagnosis. According to Weil et al., 2005, neuroimaging such as Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) prove to be very effective in the diagnosis of brain and central nervous system metastases.

Symptoms of brain metastases from breast cancer are:

- new-onset headache

- changes in mental status, cognition and behavior

- ataxia

- cranial neuropathy, which may cause diplopia and Bell's palsy

- vomiting and nausea

- deficits in sensation, motor function, and speech

Of all brain-metastatic patients, those with a controlled extra-cranial tumor, age less than 65 years and a favorable general performance (Karnofsky performance status ≥70) fare best; older patients with a Karnofsky performance status below 70 do poorly. Effective treatments for brain metastases from breast cancer exist, although symptomatic therapy alone may be chosen for those with poor performance status. Corticosteroids are crucial to the treatment of brain metastases from any source (including the breast), and are effective in reducing peri-tumoral edema and providing symptomatic relief. Chemotherapy has not been found to be effective in the treatment of brain metastases from breast cancer, due to the inability of most chemotheraputic agents to penetrate the blood–brain barrier. Whole-brain radiation may provide a median survival of 4 to 5 months, which can be further extended by months with stereotactic surgery. Several non-randomized studies have suggested that stereotactic surgery may provide a nearly equivalent outcome, compared with surgery followed by whole brain-irradiation. Surgery tends to reduce symptoms quickly and prolong life, with an improved quality of life. Multiple metastases (up to three) may be removed surgically with a risk similar to that of a single lesion, providing similar benefits. Adjuvant radiotherapy follows surgical resection; this combined approach has been shown to prolong median survival up to 12 months, depending on the factors noted above. There is evidence that surgery may be useful in select patients with recurrent brain metastases. Mean survival from diagnosis of a brain metastasis varies between studies, ranging from 2 to 16 months (depending on involvement of the CNS, the extent of the extra-cranial metastatic disease, and the treatment applied). The mean 1-year survival is estimated at 20%. Improvements in the treatment of brain metastases are clearly needed.

Standard treatment is surgery with adjuvant chemotherapy and radiotherapy. As a variation, neoadjuvant chemotherapy is very frequently used for triple-negative breast cancers. This allows for a higher rate of breast-conserving surgeries and by evaluating the response to the chemotherapy gives important clues about the individual responsiveness of the particular cancer to chemotherapy.

In addition to chemotherapy, an additive called Didox can be added to aid in the reduction of drug resistance and further treatment efforts. Didox is used to inhibit ribonucleotide reductase M2 (RRM2) which contributes to the cells resistance of the chemotherapy treatment resulting in a large number of relapse (Wilson 2016). RRM2 is upregulated within these specific Triple Negative cancer cells leading to a higher rate of drug resistance and inability to slow or stop the tumor progression which leads to more aggressive forms of triple negative breast cancer that are often fatal (Wilson 2016).

TNBCs are generally very susceptible to chemotherapy. In some cases, however, early complete response does not correlate with overall survival. This makes it particularly complicated to find the optimal chemotherapy. Adding a taxane to the chemotherapy appears to improve outcome substantially.

"BRCA1"-related triple-negative breast cancer appear to be particularly susceptible to chemotherapy including platinum-based agents and taxanes.

Although mutations in single genes were not individually predictive, TNBC tumors bearing mutations in genes involved in the androgen receptor (AR) and FOXA1 pathways were much more sensitive to chemotherapy. Mutations in the AR/FOXA1 pathway provide a novel marker for identifying chemosensitive TNBC patients who may benefit from current standard-of-care chemotherapy regimens. Mutations that lowered the levels of functional BRCA1 or BRCA2 RNA were associated with significantly better survival outcomes. This BRCA deficience signature define a new, highly chemosensitive subtype of TNBC. BRCA-deficient TNBC tumors have a higher rate of clonal mutation burden, defined as more clonal tumors with a higher number of mutations per clone, and are also associated with a higher level of immune activation, which may explain their greater chemosensitivity.

Antibodies may be used to determine the expression of protein markers on the surface of cancer cells. Often the expression of these antigens is similar to the tissue that the cancer grew from, so immunohistochemical testing sometimes helps to identify the source of the cancer. Individual tests often do not provide definitive answers, but sometimes patterns may be observed, suggesting a particular site of origin (e.g. lung, colon, etc.). Immunohistochemical testing suggests a single source of cancer origin in about one in four cases of CUP. However, there is a lack of definitive research data showing that treatment guided by information from immunohistochemical testing improves outcomes or long-term prognosis.

In order to establish whether the lump is a cyst or not, several imaging tests may be performed. Mammography is usually the first imaging test to be ordered when unusual breast changes have been detected during a physical examination. A diagnostic mammography consists in a series of x-rays that provide clear images of specific areas of the breast.

Ultrasounds and MRIs are commonly performed in conjunction with mammographies as they produce clear images of the breast and clearly distinguish between fluid-filled breast cysts and solid masses. The ultrasound and MRI exams can better evaluate dense tissue of the breast; hence it is often undergone by young patients, under 30 years old.

The breast biopsy is usually the test used to confirm the suspected diagnosing. After imaging tests have been performed and have revealed unusual areas or lumps in the breast, a breast biopsy will be ordered. This test consists in removing a sample of breast tissue which is then looked at under a microscope. The specialist analyzing the tissue sample will be able to conclude if the breast changes are benign or malignant or whether breast fibrocystic disease is present.

There are four main types of breast biopsies that may be performed. A fine-needle aspiration biopsy is usually ordered when the doctor is almost certain that the lump is a cyst. This test is generally performed in conjunction with an ultrasound which is helpful in guiding the needle into a small or hard to find lump. The procedure is painless and it consists in inserting a thin needle into the breast tissue while the lump is palpated.

The core-needle biopsy is normally performed under local anesthesia and in a physician's office. The needle used in this procedure is slightly larger than the one used for a fine-needle biopsy because the procedure is intended to remove a small cylinder of tissue that will be sent to the laboratory for further examination.

A newer type of breast biopsy is the stereotactic biopsy that relies on a three-dimensional x-ray to guide the needle biopsy of non-palpable mass. The biopsy is performed in a similar manner, by using a needle to remove tissue sample but locating the specific area of the breast is done by x-raying the breast by two different angles. Surgical biopsy is a procedure performed to remove the entire lump or a part of it for laboratory analyzing. It may be painful and it is done under local anesthesia.

Most people with cancer of unknown primary origin have widely disseminated and incurable disease, although a few can be cured through treatment. With treatment, typical survival with CUP ranges from 6 to 16 months. Survival rates are lower in cases with visceral metastatic disease, ranging from 6 to 9 months. Survival rates are higher when the cancer is more limited to lymph nodes, pleura, or peritoneal metastasis, which ranges from 14 to 16 months. Long-term prognosis is somewhat better if a particular source of cancer is strongly suggested by clinical evidence.

Recommended tests are a mammogram and a biopsy to confirm the diagnosis, and cytopathology may also be helpful. Paget's disease is difficult to diagnose due to its resemblance to dermatitis and eczema; even in patients after ductal carcinoma in situ surgery. Eczema tends to affect the areola first, and then the nipple, whereas Paget's spreads from the nipple.

During a physical examination, the doctor examines the unusual areas of the breast, especially the appearance of the skin on and around the nipples and feeling for any lumps or areas of thickening.

The most common test used to diagnose Paget's disease is the biopsy, removal of a tissue sample from the affected area which is then examined under the microscope by a pathologist, who distinguishes Paget cells from other cell types by staining tissues to identify specific cells (immunohistochemistry). Samples of nipple discharge may also be examined under the microscope to determine whether Paget cells are present.

Imprint or scrape cytopathology may be useful: scraping cells from the affected area, or pressing them onto a glass slide to be examined under the microscope.

On average, a woman may experience signs and symptoms for six to eight months before a diagnosis is made.

A pelvic examination may detect an adnexal mass. A CA-125 blood test is a nonspecific test that tends to be elevated in patients with tubal cancer. More specific tests are a gynecologic ultrasound examination, a CT scan, or an MRI of the pelvis.

Occasionally, an early fallopian tube cancer may be detected serendipitously during pelvic surgery.

While the histopathologic features and molecular features of ADH are that of (low-grade) DCIS, its clinical behaviour, unlike low-grade DCIS, is substantially better; thus, the more aggressive treatment for DCIS is not justified. In oncology in general, it is observed that tumour size is often strongly predictive of the clinical behaviour and, thus, a number of cancers (e.g. adenocarcinoma of the lung, papillary renal cell carcinoma) are defined, in part, on the basis of a minimum size.

ADH, if found on a surgical (excisional) biopsy of a mammographic abnormality, does not require any further treatment, only mammographic follow-up.

If ADH is found on a core (needle) biopsy (a procedure which generally does not excise a suspicious mammographic abnormality), a surgical biopsy, i.e. a breast lumpectomy, to completely excise the abnormality and exclude breast cancer is the typical recommendation.

Although metastasis is widely accepted to be the result of the tumor cells migration, there is a hypothesis saying that some metastases are the result of inflammatory processes by abnormal immune cells. The existence of metastatic cancers in the absence of primary tumors also suggests that metastasis is not always caused by malignant cells that leave primary tumors.