Breast cancer risk is elevated for defined fraction of lesions. Except for patients with a strong family history of breast cancer, where the risk is two-fold, nonproliferative lesions have no increased risk. Proliferative lesions also have approximately a 2-fold risk. In particular, atypical hyperplasia is associated with an increased risk of developing breast cancer. Atypical lobular hyperplasia is associated with the greatest risk, approximately 5-fold and especially high relative risk of developing premenopausal breast cancer. Atypical ductal hyperplasia is associated with 2.4-fold risk. In contrast, a New England Journal of Medicine article states that for women with a strong familial history of breast cancer, the risk of future breast cancer is roughly doubled, independent of histological status. The article further states "The relative risk of breast cancer for the cohort was 1.56 (95 percent confidence interval, 1.45 to 1.68), and this increased risk persisted for at least 25 years after biopsy. The relative risk associated with atypia was 4.24 (95 percent confidence interval, 3.26 to 5.41), as compared with a relative risk of 1.88 (95 percent confidence interval, 1.66 to 2.12) for proliferative changes without atypia and of 1.27 (95 percent confidence interval, 1.15 to 1.41) for nonproliferative lesions. The strength of the family history of breast cancer, available for 4808 women, was a risk factor that was independent of histologic findings. No increased risk was found among women with no family history and nonproliferative findings. In the first 10 years after the initial biopsy, an excess of cancers occurred in the same breast, especially in women with atypia."

It is not well understood whether the lesions are precursors of breast cancer or only indication of increased risk, for most types of lesions the chance of developing breast cancer is nearly the same in the affected and unaffected breast (side) indicating only coincidence of risk factors. For atypical lobular hyperplasia there is high incidence of ipsilateral breast cancers indicating a possible direct carcinogenetic link.

Extramammary Paget's disease is usually seen in isolation and is associated with an underlying invasive malignancy about 12% of the time. It is associated with an underlying adnexal malignancy about 24% of the time. Paget's disease of the breast is almost always associated with an underlying invasive malignancy, i.e. breast cancer (e.g. mammary ductal carcinoma).

The relative risk of breast cancer based on a median follow-up of 8 years, in a case control study of US registered nurses, is 3.7.

Breast diseases can be classified either with disorders of the integument, or disorders of the reproductive system. A majority of breast diseases are noncancerous.

The duct widening is commonly believed to be a result of secretory stasis, including stagnant colostrum, which also causes periductal inflammation and fibrosis. However, because nonspecific duct widening is common it might be also coincidental finding in many processes.

Smokers seem more often affected by duct ectasia "syndrome" although the reported results are not entirely consistent. The correlation with smoking status appears weaker than for subareolar abscess. Correlation with the actual duct widening is not known.

Both duct widening and duct ectasia syndrome are frequently bilateral, hence systemic causes are likely involved.

Paget's disease of the vulva, a rare disease, may be a primary lesion or associated with adenocarcinoma originating from local organs such as the Bartholin gland, the urethra, or the rectum and thus be secondary. Patients tend to be postmenopausal.

Paget's disease of the penis may also be primary or secondary, and is even rarer than genital Paget’s disease in women. At least one case has been misdiagnosed as Bowen's disease. Isolated Paget's disease of the penis is extremely rare.

The condition is usually self-limiting, and thus not indicated for surgery.

Most patients diagnosed with Paget's disease of the nipple are over age 50, but rare cases have been diagnosed in patients in their 20s. The average age at diagnosis is 62 for women and 69 for men. The disease is rare among both women and men.

It is also known that disruption of the endocrine system by certain chemicals adversely affects the development of the reproductive system and can cause vaginal cancer. Many other reproductive diseases have also been link to exposure to synthetic and environmental chemicals. Common chemicals with known links to reproductive disorders include: lead, dioxins and dioxin-like compounds, styrene, toluene, BPA (Bisphenol A) and pesticides.

Ductal carcinoma is a type of tumor that primarily presents in the ducts of a gland.

Types include:

- Mammary

- Ductal carcinoma in situ

- Invasive ductal carcinoma

- Pancreatic ductal carcinoma

The specific causes of DCIS are still unknown. The risk factors for developing this condition are similar to those for invasive breast cancer.

Some women are however more prone than others to developing DCIS. Women considered at higher risks are those who have a family history of breast cancer, those who have had their periods at an early age or who have had a late menopause. Also, women who have never had children or had them late in life are also more likely to get this condition.

Long-term use of estrogen-progestin hormone replacement therapy (HRT) for more than five years after menopause, genetic mutations (BRCA1 or BRCA2 genes), atypical hyperplasia, as well as radiation exposure or exposure to certain chemicals may also contribute in the development of the condition. Nonetheless, the risk of developing noninvasive cancer increases with age and it is higher in women older than 45 years.

There are usually no adverse side effects to this condition. In almost all cases it subsides after menopause. A possible complication arises through the fact that cancerous tumors may be more difficult to detect in women with fibrocystic changes.

Micromastia (also called hypomastia, breast aplasia, breast hypoplasia, or mammary hypoplasia) is a medical term describing the postpubertal underdevelopment of a woman's breast tissue. Just as it is impossible to define 'normal' breast size, there is no objective definition of micromastia. Breast development is commonly asymmetric and one or both breasts may be small. This condition may be a congenital defect associated with underlying abnormalities of the pectoral muscle (as in Poland's syndrome), related to trauma (typically surgery or radiotherapy) or it may be a more subjective aesthetic description.

Self perceived micromastia involves a discrepancy between a person's body image, and her internalized images of appropriate or desirable breast size and shape. Societal ideals over breast size vary over time, but there exist many conceived ideas involving breasts and sexual attractiveness and identity across different cultures.

Micromastia can be congenital or disorder and may be unilateral or bilateral. Congenital causes include ulnar–mammary syndrome (caused by mutations in the TBX3 gene), Poland syndrome, Turner syndrome, and congenital adrenal hyperplasia. There is also a case report of familial hypoplasia of the nipples and athelia associated with mammary hypoplasia that was described in a father and his daughters. Acquired causes of micromastia include irradiation in infancy and childhood and surgical removal of prepubertal breast bud.

Examples of congenital abnormalities of the reproductive system include:

- Kallmann syndrome - Genetic disorder causing decreased functioning of the sex hormone-producing glands caused by a deficiency or both testes from the scrotum.

- Androgen insensitivity syndrome - A genetic disorder causing people who are genetically male (i.e. XY chromosome pair) to develop sexually as a female due to an inability to utilize androgen.

- Intersexuality - A person who has genitalia and/or other sexual traits which are not clearly male or female.

Among women worldwide, breast cancer is the most common cause of cancer death. Breast self-examination (BSE) is an easy but unreliable method for finding possible breast cancer. Factors that appear to be implicated in decreasing the risk of, early diagnosis of. or recurrence of breast cancer are regular breast examinations by health care professionals, regular mammograms, self-examination of breasts, healthy diet, and exercise to decrease excess body fat.

The most common causes of nipple inversion include:

- Born with condition

- Trauma which can be caused by conditions such as fat necrosis, scars or it may be a result of surgery

- Breast sagging, drooping or ptosis

- Breast cancer

- breast carcinoma

- Paget's disease

- Inflammatory Breast Cancer (IBC)

- Breast infections or inflammations

- mammary duct ectasia

- breast abscess

- mastitis

- Genetic variant of nipple shape such as

- Weaver syndrome

- congenital disorder of glycosylation type 1A & 1 L

- Kennerknecht-Sorgo-Oberhoffer syndrome

- Gynecomastia

- Holoprosencephaly, recurrent infections and monocytosis

- Tuberculosis

Around 10–20% of all women are born with this condition. Most common nipple variations that women are born with are caused by short ducts or a wide areola muscle sphincter.

Inverted nipples can also occur after sudden and major weight loss.

The presence of three factors for the prognosis has been suggested, whether there is a palpable mass of the disease, whether lymph nodes are positive and whether there is an underlying malignant cancer.

If there is none of these, the five- and 10-year survival is 85% and 80% respectively, with adjuvant chemotherapy even 95% and 90%. If there is a palpable mass, it is 32% and 31% respectively, with adjuvant chemotherapy (40% and 35%).

Positive lymph-nodes have been positively associated with a palpable mass and affect the prognosis to be now just 28% survival after 10 years (vs 79% without palpable mass and without affected lymph-nodes). Involvement of the lymph nodes does not directly cause any harm, but is merely an indicator of systemic spread.

Furthermore, patients with an identifiable associated underlying breast tumor have a survival rate of 38-40% at five years and a survival rate of 22-33% at 10 years. The death rate of metastatic breast carcinoma in patients with mammary Paget's disease and underlying cancer is 61.3%, with a 10-year cumulative survival rate of 33%.

Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast hypoplasia or aplasia.

It has been associated with TBX3.

Amazia refers to a condition where one or both of the mammary glands is absent (the nipple and areola remain present). This may occur either congenitally or iatrogenically (typically the result of surgical removal and/or radiation therapy). Amazia can be treated with breast implants.

Amazia differs from amastia (the complete absence of breast tissue, nipple, and areola), although the two conditions are often (erroneously) thought to be identical. The terms "amazia" and "amastia" are thus often used interchangeably, even though the two conditions are medically different.

Treatment may include the following:

- Surgery with or without radiation

- Radiotherapy

Fast neutron therapy has been used successfully to treat salivary gland tumors, and has shown to be significantly more effective than photons in studies treating unresectable salivary gland tumors.

- Chemotherapy

Mammary analogue secretory carcinoma (MASC) (also termed MASC; the "SG" subscript indicates salivary gland)) is a salivary gland neoplasm that shares a genetic mutation with certain types of breast cancer. MASC was first described by Skálová et al. in 2010. The authors of this report found a chromosome translocation in certain salivary gland tumors that was identical to the (12;15)(p13;q25) fusion gene mutation found previously in secretory carcinoma, a subtype of invasive ductal carcinoma of the breast.

In some population studies moderate alcohol consumption is associated with increase the breast cancer risk.

In contrast, research by the Danish National Institute for Public Health, comprising 13,074 women aged 20 to 91 years, found that moderate drinking had virtually no effect on breast cancer risk.

Studies that control for screening incidence show no association with moderate drinking and breast cancer, e.g.. Moderate drinkers tend to screen more which results in more diagnoses of breast cancer, including mis-diagnoses. A recent study of 23 years of breast cancer screening in the Netherlands concluded that 50% of diagnoses were over-diagnoses.

Smoking tobacco appears to increase the risk of breast cancer, with the greater the amount smoked and the earlier in life that smoking began, the higher the risk. In those who are long-term smokers, the risk is increased 35% to 50%. A lack of physical activity has been linked to about 10% of cases. Sitting regularly for prolonged periods is associated with higher mortality from breast cancer. The risk is not negated by regular exercise, though it is lowered.

There is an association between use of hormonal birth control and the development of premenopausal breast cancer, but whether oral contraceptives use may actually cause premenopausal breast cancer is a matter of debate. If there is indeed a link, the absolute effect is small. Additionally, it is not clear if the association exists with newer hormonal birth controls. In those with mutations in the breast cancer susceptibility genes "BRCA1" or "BRCA2", or who have a family history of breast cancer, use of modern oral contraceptives does not appear to affect the risk of breast cancer.

The association between breast feeding and breast cancer has not been clearly determined; some studies have found support for an association while others have not. In the 1980s, the abortion–breast cancer hypothesis posited that induced abortion increased the risk of developing breast cancer. This hypothesis was the subject of extensive scientific inquiry, which concluded that neither miscarriages nor abortions are associated with a heightened risk for breast cancer.

A number of dietary factors have been linked to the risk for breast cancer. Dietary factors which may increase risk include a high fat diet, high alcohol intake, and obesity-related high cholesterol levels. Dietary iodine deficiency may also play a role. Evidence for fiber is unclear. A 2015 review found that studies trying to link fiber intake with breast cancer produced mixed results. In 2016 a tentative association between low fiber intake during adolescence and breast cancer was observed.

Other risk factors include radiation and shift-work. A number of chemicals have also been linked, including polychlorinated biphenyls, polycyclic aromatic hydrocarbons, and organic solvents Although the radiation from mammography is a low dose, it is estimated that yearly screening from 40 to 80 years of age will cause approximately 225 cases of fatal breast cancer per million women screened.

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.