A-B  [TOP]
Allele
An alternative form of a gene at a particular locus on a
chromosome. Most genes have two alleles, one on each copy of the chromosome.
Amino Acid
Any of a class of 20 molecules that combine to form
proteins in living things.
Atypical ductal hyperplasia
Increased numbers of ductal epithelial cells which show some but not all the features of in
situ carcinoma; associated with a significant risk of developing subsequent carcinoma in either
breast.
Autosomal
Pertaining to all of the chromosomes other than the sex
chromosomes "X" and "Y."
Autosomal Dominant
A pattern of inheritance caused by a mutation on
one allele of an autosomal gene. Only one parent need be affected, and this parent has a one in two
chance of passing the disease-causing allele to his or her offspring. Genetic predisposition to
breast/ovarian cancer via BRCA1 and BRCA2 (see below) is inherited in the autosomal dominant
fashion.
Autosomal Recessive
A pattern of inheritance in which mutations
occur in both alleles of an autosomal gene. Thus, both parents must possess mutated copies of the
gene for their offspring to inherit an autosomal recessive condition.
B BASE: One of the four primary subunits of DNA.
Biopsy
Removal of a sample of tissue or cells from the body by
excision or aspiration for microscopic examination to assist in diagnosis of a disease.
BRCA1
Breast cancer gene 1. It is identified as a gene on the
long arm of chromosome 17 which is mutated or lost in 2-4% of women with breast cancer.
BRCA2
Breast cancer gene 2 has been identified on chromosome 13.
Breast conserving surgery
Surgery where the breast cancer is
excised together with a margin of normal breast tissue. The whole breast is not removed.
Breast reconstruction
The creation or insertion of a breast
shape or mound using surgical techniques, after a total mastectomy.
Breast self-exam (BSE)
A method for women to check their own
breasts for changes in appearance or feel.
C-D  [TOP]
Cancer
A general name for over 100 diseases in which abnormal
cells grow out of control.
Carcinogen
Substance that can cause cancer.
Carcinoma
A malignant tumor arising from epithelial cells, which
are cells lining the external or internal surfaces of the body. Carcinomas spread by local
infiltration and may also spread to distant sites such as lung, liver, lymph nodes and bone. See
also metastasis
Carcinoma in situ
A malignant tumor which has not yet become
invasive but is confined to the layer of cells from which it arose. A form of pre-invasive cancer.
Chemotherapy
Treatment with drugs to destroy cancer cells.
Chemotherapy is often used in addition to surgery or radiation to treat cancer when metastasis is
proven or suspected, when the cancer has come back (recurred), or when there is a strong likelihood
that the cancer could recur.
Chromosome
A body in the cell nucleus carrying genes. See gene.
CT or CAT scan
Detailed pictures of areas of the body created
by a computer linked to an x-ray machine.
Cyst
A fluid-filled sac or cavity.
Depression
A pervasive and sustained lowering of mood, often associated with tearfulness, guilt or
irritability. Other features include loss of interest in activities, lowered energy levels, impaired
concentration and disturbance of sleep and appetite.
Diagnosis
Identifying a disease by its signs, symptoms, imaging
procedures, and laboratory findings. The earlier a diagnosis of cancer is made, the better the
chance for long-term survival.
DNA
Abbreviation for deoxyribonucleic acid. DNA holds genetic information on
cell growth, division, and function.
Duct
A pathway in the breast through which milk passes from lobes to the
nipple.
Ductal carcinoma in situ (DCIS)
Cancer cells that start in the
milk passages (ducts) and have not penetrated the duct walls into the surrounding tissue. This is a
highly curable form of breast cancer that is treated with surgery or surgery plus radiation therapy.
Also called intraductal carcinoma.
E-F  [TOP]
Endoscopy
A procedure in which the doctor looks inside the body
through a lighted tube called an endoscope.
Estrogen
A female sex hormone produced primarily by the ovaries,
and in smaller amounts by the adrenal cortex. In women, levels of estrogen fluctuate on nature's
carefully orchestrated schedule, regulating the development of secondary sex characteristics,
including breasts; regulating the monthly cycle of menstruation; and preparing the body for
fertilization and reproduction. In breast cancer, estrogen may promote the growth of cancer cells.
Familial breast cancer
Breast cancer that is due to
an inherited disposition. The two best described syndromes of familial breast
cancer are due to mutations the BRCA1 and BRCA2 genes (where there may also be a predisposition to ovarian
cancer). Familial breast cancers are thought to
comprise less than 10% of all breast cancers.
Free flap reconstruction
Soft tissue reconstruction where the
tissue (such as the latissimus dorsi or a TRAM flap) is separated from its donor site and a new
blood supply established using microsurgical techniques.
G-H  [TOP]
Gene
A unit of inheritance; A segment of DNA that contains
information on hereditary characteristics such as hair color, eye color, and height as well as
susceptibility to certain diseases. Women who have BRCA1 or BRCA2 gene mutations (defects) have an
inherited (genetic) tendency to develop breast cancer. Each of the body's approximately 30,000 to 100,000 genes
contains the code for a specific product, typically, a protein such as an enzyme.
Gene Markers
Landmarks for a target gene, either detectable
traits that are inherited along with the gene or distinctive segments of DNA.
Gene Mapping
Determining the relative positions of genes on a
chromosome and the distance between them.
Genetic Linkage Maps
DNA maps that assign relative
chromosomal locations to genetic landmarks-either genes for known traits or distinctive sequences of
DNA-on the basis of how frequently they are inherited together.
Germline
Sperm and egg cells, which have only a single set of
chromosomes.
Germline Mutation
A gene change in the body's reproductive
cells that becomes incorporated in the DNA of every cell in the body.
Hormone receptors
Hormone receptors are proteins residing
within the cell which specifically bind to the appropriate hormone. This hormone receptor complex
subsequently stimulates the cell to undergo a physiological function such as cell division. In women
with breast cancer, these receptors are present in approximately 50% of all women and are powerful
prognostic indicators of survival and response to hormone therapy.
Hormone replacement therapy
The use of exogenous female hormones
as a substitute for natural hormones in women.
I-L  [TOP]
Immune system
The complex group of cells and organs that defends
the body against infection and disease.
Invasive cancer
Cancer that has spread beyond the area it
developed in, to involve adjacent tissues. For example, invasive breast cancers develop in milk
glands (lobules) or milk passages (ducts) and spread to the adjacent fatty breast tissue. Some
invasive cancers spread to distant areas of the body (metastasize), but others do not. Also called
infiltrating cancer.
Lumpectomy
Surgical removal of a lump from the breast.
Lymph nodes
Collections of lymphoid tissue at intervals
throughout the body. Common sites for the early spread of cancer.
M-O  [TOP]
Malignant
Cancerous.
Mammogram
A soft tissue x-ray of the breast which may be
undertaken to evaluate a clinical problem or which may be undertaken as a screening test in women
with no symptoms of breast cancer.
Mammography
That process whereby soft tissue x-rays of the
breast are obtained.
Mastectomy
Surgical removal of the breast. May be total
(all of the breast) or partial. See also total
mastectomy.
Metastasis
The process by which carcinoma cells are
disseminated from the tumor origin (primary tumor) to form a new tumor (secondary tumor) at a
distant site. Transportation of the cells is generally via lymphatics or blood vessels.
Metastatic cancer
Cancer which has spread to a site distant from the
original primary site.
Mitosis
The process of cell division. The number of mitoses
indicates the number of tumor cells in replicative mode.
Oncogene
Mutation-alteration of the DNA sequence of a gene.
Literally, a cancer causing gene. A gene, often with
a normal function in controlling growth or differentiation, which when functioning abnormally
(activated, for example, by amplification or mutation) confers on normal cells immortality or the
ability to form tumors (transformation). Oncogenes that are commonly overexpressed or amplified in
breast cancer include EGF-R, erbB-2, c-myc, c-myb and int-2/cyclin D1.
Oophorectomy
The surgical removal of the ovaries, sometimes
performed as a part of hormone therapy.
Open biopsy
A surgical procedure performed under local or
general anaesthetic in which a sample of breast tissue for histological examination is obtained in a
conventional surgical procedure, using an open incision.
P-Q  [TOP]
Palpation
Feeling the breast for any abnormalities.
Partial mastectomy
Excision of part of the breast. In practice synonymous with complete local excision. See also mastectomy.
Pathologist
A doctor with special training in diagnosing
disease from samples of tissue.
Pedigree
A diagram of a family history indicating the family
members (males as squares, females as circles) and their relationships to affected individuals;
those affected by a particular illness are denoted by "filled-in" symbols.
Penetrance
The extent to which the inheritance of a mutated gene
results in illness or other physiologic manifestation. A gene is considered to be completely
penetrant if it is always associated with illness, and incompletely penetrant if it is not.
Predictive Gene Tests
Tests to identify gene abnormalities that may
make a person susceptible to certain diseases or disorders.
Primary breast tumor
Tumor arising in the breast.
Prophylactic mastectomy
Removal of the breast when no
disease is present in order to prevent breast cancer from developing.
Prosthetic breast reconstruction
Creation of a breast shape using
an artificial prosthesis, usually consisting of a silicone envelope containing normal saline or
silicone gel.
Protein
A large, complex molecule composed of amino acids. The
sequence of the amino acids-and thus the function of the protein-is determined by the sequence of
the base pairs in the gene that encodes it. Proteins are essential to the structure, function and
regulation of the body.
Protocol
A well defined program for treatment.
R-S  [TOP]
Radiotherapy
The use of radiation, usually x-rays or gamma rays,
to kill tumour cells.
Relapse
Recurrence of disease after observed response to
treatment.
Secondary tumor
A deposit of breast cancer away from the breast
(such as in the lung, bone or lymph node).
Subcutaneous mastectomy
Surgical excision of the entire breast
parenchyma including the axillary tail of the breast, with preservation of the entire breast skin
including the nipple and areola.
T-U  [TOP]
Total mastectomy
Surgical excision of the entire breast
parenchyma including the axillary tail of the breast, together with an ellipse of overlying skin
which encloses the nipple and areola.
Tumor
An abnormal growth of tissue. It may be localized (benign)
or invade adjacent tissues (malignant) or distant tissues (metastatic).
Tumor suppressor gene
A gene which, when down-regulated,
inactivated or lost contributes to cell proliferation or ceases its
activity in blocking cell proliferation. Examples are p53 in breast cancer, RB protein in
retinoblastoma and possibly BRCA1 in breast cancer.
V-Z  [TOP]
X-rays
X-rays are electromagnetic radiations with wave lengths in
the range of 0.1 to 100 angstroms. X-rays are absorbed exponentially by the irradiated tissue.
Terms for this glossary were taken from several published glossaries including:
http://www.pmedia.com/Avon/library/glossary.html
http://www.ncgr.org/gpi/odyssey/BCAN2/bcgloss.html
http://www.cancer.org/bcn/gloss.html