A-Z Glossary of Inherited Cancer Terminology
A
- Acellular Dermal Matrix (ADM): A soft tissue substitute derived from donated human skin tissue, which can be used as a soft tissue replacement in breast reconstruction to cover the implant.
- Active Treatment: This is the period of treatment after a cancer diagnosis which can include some, or all of, the following: surgery, chemotherapy, or radiotherapy.
- Adjuvant Therapy: Additional treatment after primary treatment to reduce cancer recurrence risk by killing any remaining cancer cells.
- Advanced Cancer: Cancer that has spread and is unlikely to be cured, but treatment may help manage symptoms.
- Areola: Coloured rim around the nipple.
- Aromatase Inhibitors: Hormonal therapy drugs which are often prescribed after active treatment (i.e. surgery, chemotherapy, and/or radiotherapy) are completed. These lower estrogen levels by preventing the conversion of other hormones into estrogen.
- Ashkenazi Jewish Ancestry: Jewish People whose ancestors lived in France, Germany, and Eastern Europe, including Poland, Germany and Russia, and their descendants.
- Atypical Ductal Hyperplasia: A non-cancerous abnormal growth of cells within the breast ducts.
- Axilla: The underarm area (armpit).
- Axillary Dissection/Surgery: Removal of some armpit lymph nodes to see if the breast cancer has spread beyond the breast.
- Axillary Lymph Nodes: Lymph nodes in and around the armpit.
- Axillary Web Syndrome (also known as lymphatic cording): Tight cords of tissue down the arm that can occur after breast cancer surgery and can cause shoulder pain and restricted motion.
B
- Benign Tumour: Abnormal growth of cells that are non-cancerous.
- Biopsy: Removal of tissue samples or a small number of cells for examination and to diagnose disease. This can be a sample of tissue (incisional biopsy), entire lump or suspicious area (excisional biopsy) or a sample of the tissue or fluid (needle biopsy).
- BRCA1: BReast CAncer gene 1, a gene found on chromosome 17 identified to be associated with an increased risk of breast, ovarian, prostate, pancreatic and other types of cancer if the gene has certain mutations.
- BRCA2: BReast CAncer gene 2, a gene found on chromosome 13 that normally suppresses cell growth, but with certain mutations has been identified to be associated with an increased risk of breast, ovarian, prostate and other types of cancer.
- Breast Augmentation (also known as augmentation mammoplasty): use of breast implants or fat transfer to change the size and shape of your breasts.
- Breast Cancer: Abnormal growth of cells that can form in the breast tissues of both females and males. This can occur in the ducts (tubes that carry milk to the nipple) and/or the lobules (glands that produce milk).
- Breast Cancer Screening: Regular physical examinations and breast imaging tests (such as mammogram or ultrasound). Frequency is determined by breast cancer risk for an individual.
- Breast Conserving Surgery (also known as a lumpectomy or partial mastectomy): Surgery to remove breast cancer and a small area of healthy tissue around the cancer.
- Breast Lift (also known as mastopexy): Surgery to lift the breasts by removing excess skin and reshaping the breast tissue
- Breast Oedema (also known as breast lymphodema): Swelling due to fluid build-up in breast tissue that can develop after treatment for breast cancer.
- Breast Prosthesis (also called breast form): Artificial breast to recreate natural breast shape.
- Breast Reduction: Reduction of breast size and breast lift by surgery.
- Breast Self Examination (BSE): a screening method used where an individual undertakes their own breast check in an attempt to detect early breast cancer.
- Breast Specialist/Surgeon (BS): Usually a general surgeon who is especially skilled in operating on the breast.
C
- Cancer: A group of cells that displays uncontrolled growth (division beyond normal limits), invasion (intrusion on and destruction of adjacent tissues), and sometimes metastasis (spread to other locations in the body).
- Cannula: A plastic tube inserted into a narrow opening in the body so that fluids can be introduced or removed.
- Capsular Contracture: A complication of breast implant surgery which occurs when the scar tissue that normally forms around the implant becomes firm, tightening and squeezing the implant.
- Carcinoma: A cancer that develops in the skin or in tissues that line or cover internal organs.
- Cascade Genetic Testing: The process of extending genetic testing to individuals at risk within a family for inheriting a genetic variant previously identified in a biological relative.
- Catheter: A hollow, flexible tube through which fluids can be passed into the body or drained from it.
- Cellulitis: A common and potentially serious skin infection caused by bacteria. It can occur after lymph gland removal.
- Central Line: A plastic tube inserted into a vein in your chest used to deliver medicine, fluids, blood, or nutrition.
- Chemotherapy: Cancer treatment that uses cytotoxic drugs to kill or slow cancer cell growth.
- Chemoprevention: The use of drugs or other agents to prevent, delay, or reduce the risk of developing cancer by inhibiting the development or progression of malignant changes in cells, usually for people with a high risk of developing cancer.
- Chromosome: the microscopic threadlike part of the cell that carries hereditary information in the form of genes.
- Clear Margin: Tissue that was removed during surgery from around the cancerous cells that does not contain cancer cells, suggesting all cancer has been removed.
- Clinical Breast Examination: A breast examination performed by a healthcare professional.
- Clinical Trials: Studies involving eligible patients to test new treatment options or practices to see if there is a more effective treatment option than currently offered.
- Cold Cap: Cap worn during chemotherapy that is connected to a cooling system to minimise hair loss.
- Complementary Therapies: Additional therapies used alongside conventional medical treatments that may include counselling, massage, relaxation therapy, acupuncture, and yoga.
- Computed Tomography (CT) Scan: A medical imaging procedure that uses x-rays and digital computer technology to create two- or three-dimensional images of the body.
D
- DIEP flap: A type of reconstruction where blood vessels called deep inferior epigastric perforators (DIEP), and the skin and fat connected to them are removed from the lower abdomen and transferred to the chest to reconstruct a breast after mastectomy.
- Direct to Implant: Placing a breast implant immediately at the time of the mastectomy. Also known as single- stage or one-step breast reconstruction.
- DNA (deoxyribonucleic acid): are the molecules inside the centre (nucleus) of cells that give instructions to the body’s cells and carry genetic information and pass it from parents to children.
- Donor Site: An area of the body where the surgeon harvests skin, muscle and fat to reconstruct a breast/s. Commonly located in less exposed areas of the body such as the back, abdomen or buttocks.
- Drop and Fluff: The gradual movement and change in shape that occurs to breast implants following breast augmentation/ reconstruction.
- Ductal Carcinoma in Situ (DCIS): Non-invasive breast cancer confined to the ducts of the breast.
- Ducts: a tube or vessel of the body through which fluids pass.
E
- Early Breast Cancer: Breast cancer that has not spread beyond the breast or lymph nodes under the arm (known as axillary lymph nodes).
- Early Menopause: Menopause occurring in women under 45 years of age, often a side effect of some common treatments for breast cancer, chemoprevention and ovary removal.
- Endocrine Therapy (also known as hormone therapy): Treatment to stop or slow the growth of hormone-positive cancer.
- Estrogen: A sex hormone primarily produced by the ovaries and, after menopause, by fat cells.
- Exchange: Exchange is a breast surgery where the expanders are removed, and the implants inserted.
F
- Family History: A record of a person’s current and past medical conditions, and those of their parents, brothers, sisters, children, and other family members which can be used to show patterns of certain conditions and establish their risk factors for these.
- Familial Cancer: Cancer that occurs in families more often than would be expected by chance. These cancers often occur at an early age and may indicate the presence of a gene mutation that increases the risk of cancer.
- Fat Grafting (also known as lipofilling): Uses a persons own fat from another area of their body to fix minor differences in the shape, balance, or position of the reconstructed breast/s.
- Fill: The solution used and injected into the expander port to slowly inflate the expander, done over a period of weeks to stretch out the muscle and allow a new "pocket" for the implant.
- Flap: A type of breast reconstruction using the body’s own tissue (skin, muscle and fat).
- Founder Mutation: A gene mutation that is found with high frequency in certain ethnicities or descendants of people from specific geographic areas.
G
- Gene: The basic unit of inheritance, passed from parents to offspring containing the information needed to specify physical and biological traits and a person’s risk of developing certain hereditary or genetic diseases.
- Gene Mutation: Part of the DNA code is damaged or changed so it alters the genetic message carried by that gene. This can change the behaviour of the cells in your body, including how they grow and develop, which can increase your risk of cancer.
- General population risk: Persons who are not known to have any medical conditions, family history of cancer or specific exposures that would increase the risk of developing certain type/s of cancer.
- Gene Sequencing: A combination of laboratory procedures used on a segment(s) of DNA to identify the nucleotide sequence to determine if there has been a change to the expected pattern.
- Genetic Counselling: A communication process between a specially trained healthcare provider and a person interested in understanding his or her genetic risk of developing a specific hereditary or genetic disease. The person’s family and personal medical history may be discussed, and counselling may lead to genetic testing.
- Genetic Counsellor: Professionals with specialised graduate degrees and experience in medical genetics and counselling who interpret genetic information, analyse inheritance patterns and risks of recurrence, and review testing options with families.
- Genetic Testing: The analysis of DNA to see if a person has certain gene changes that may indicate an increased risk for developing a specific disease or disorder.
- Germ Cells: Cells that produce eggs in females and sperm in males. Germ cell cancers can occur in the ovaries or testicles.
- Germline Mutations: This refers to a mutation that is inherited or passed on to children through the germline (eggs or sperm).
- Germline Testing: Testing on cells that do not have cancer (such as blood or skin cells) to determine if a person has a gene mutation known to increase the risk of developing cancers and other health problems. This can be passed down from parents.
- Genomic Assay: Test providing information on cancer recurrence risk and benefit of chemotherapy.
- Gluteal Artery Perforator Flap (GAP Flap): Inferior superior and inferior gluteal flap is a surgical procedure that uses the soft tissue of the gluteal region to create a breast/s.
- Grade: A score that describes how quickly the tumour is likely to grow.
- Gynaecologic Cancer: Cancer of the female reproductive tract, including the ovaries, cervix, endometrium, fallopian tubes, uterus, and vagina.
- Gynaecologist: A doctor specialising in the branch of medicine that deals with the diseases and routine physical care of the reproductive system of women.
- Gynaecologic Oncologist: An obstetrician/gynaecologist who specialises in the diagnosis and treatment of women with cancer of the reproductive organs, such as the ovaries, endometrium, uterus, cervix, vagina and vulva.
H
- Hematoma: Blood pooling beneath the skin creating a swelling.
- Hereditary: The inheritance of genetic information from a parent to their child through the genes carried in sperm and egg cells.
- Hereditary Breast and Ovarian Cancer Syndrome (HBOC): an inherited tendency to develop breast, ovarian and other cancers. Inherited conditions are passed to a person through blood relatives.
- Hormone Receptors: Proteins on the cell surface that bind to specific hormones.
- Hormone Replacement Therapy (HRT): A treatment where a person receives hormones, either to supplement a lack of naturally occurring hormones, or to substitute other hormones for naturally occurring hormones.
- Hormone Treatment: A treatment that blocks the body's natural hormones, which can help cancer grow.
- Hysterectomy: Surgical removal of the uterus. It may also involve removal of the cervix, ovaries, fallopian tubes and other surrounding structures.
I
- Immunotherapy: A treatment that helps the body’s immune system fight cancer, infections, and other diseases.
- Increased risk: A higher likelihood (compared to the general population) of developing a certain cancer/s due to personal and/or family history of medical conditions, exposures, and/or cancers.
- Induction therapy: (also known as first-line therapy, primary therapy, and primary treatment): Initial treatment used to reduce ovarian cancer before other treatments, such as chemotherapy.
- Intraperitoneal (IP) chemotherapy: Chemotherapy treatment delivered directly into the abdomen through a thin tube.
- Intravenous Infusion: The injection of treatment drugs or other necessary fluids into the bloodstream via a needle.
- Invasive Ductal Carcinoma (IDC): A type of breast cancer that starts in the ducts and spreads to other parts of healthy breast tissue.
- Invasive Lobular Carcinoma (ILC): A type of breast cancer that begins in the milk-producing glands (lobules) of the breast and spreads to surrounding breast tissue.
- In Vitro Fertilization (IVF): A fertility treatment where the women’s eggs are removed and fertilised with sperm in a test tube before the embryo is transferred.
L
- Latissimus Dorsi Flap: A surgical technique that uses muscle, fat and skin tunnelled under the skin and tissue of a woman’s back to the reconstructed breast and remains attached to its donor site, leaving blood supply intact.
- Lobular Carcinoma In Situ (LCIS): Non-invasive breast cancer that is confined to the lobules of the breast.
- Lobules: Breast lobules are milk-producing glands of the breast.
- Low Malignant Potential (LMP) Tumor: (also known as ovarian borderline malignant tumour): A condition in which cells that may become cancer form in the thin tissue that covers the ovary. In this condition, tumour cells rarely spread outside of the ovary.
- Lumpectomy: (also known as wide local excision): Removal of the breast tissue that contains the tumour and a margin of normal tissue around the tumour.
- Lymphadenectomy: Removal of the lymph glands from a part of the body.
- Lymphatic System: A network of vessels, nodes, and organs that remove excess fluid, absorb fatty acids, transport fat, and produce immune cells.
- Lymph Nodes: Small structures that collect and destroy bacteria and viruses.
- Lymphoedema: Swelling caused by a build-up of lymph fluid. This happens when lymph nodes do not drain properly, usually after lymph glands are removed.
- Lymph Vessels: Thin tubes that carry lymphatic fluid throughout the body.
M
- Mammogram: An imaging technique that uses a low-dose x-ray of the breast tissue to detect and diagnose breast cancer. It can be used for screening or for diagnosis.
- Margin/Surgical Margin: The edge of tissue removed during surgery. Clear or negative margin meaning no cancer cells are contained in the tissue removed while a positive margin means further surgery to remove additional cancerous tissue.
- Mastectomy: Surgery to remove the breast to treat or prevent breast cancer. Bilateral mastectomy is the removal of both breasts.
- Medical Oncologist: A doctor who specialises in diagnosing and treating cancer using chemotherapy, hormonal therapy, and biological therapy. A medical oncologist often is the main health care provider for someone who has cancer.
- Menopause: The end of menstruation.
- Magnetic Resonance Imaging (MRI): A for looking for abnormalities such as cancer using magnetic fields. Breast MRI is typically recommended as a screening tool for breast cancer in high-risk women.
- Multidisciplinary Team: A group of healthcare professionals who specialise in different areas of care, collaborate, and coordinate with patients, and regularly meet and work together to ensure their patients achieve the best possible outcome.
N
- Neoadjuvant Therapy: Therapy given before the main treatment to enhance its success, such as chemotherapy.
- Neutropenia: An abnormally low number of a particular type of white blood cell, called a neutrophil. This is often caused by chemotherapy and may result in an increased risk of infection.
- Nipple Delay: The step in a nipple-sparing mastectomy that involves severing the blood vessels and other breast tissue beneath the nipple so that it’s no longer dependent on the underlying tissue for blood supply and instead dependent on the skin around it.
- Nipple Reconstruction: Techniques to reconstruct the nipple after a mastectomy, including intradermal tattooing, variations of local tissue flaps, skin grafts, cartilage grafts, tissue-engineered structures, and nipple-sharing techniques.
- Nipple Sparing Mastectomy (NSM): A mastectomy where the nipple and/or areola are left in place while the breast tissue under them is removed.
- Non-hereditary: A characteristic or trait of a person is not passed from a parent to a child through their genes.
- Non-Nipple Sparring Mastectomy: A mastectomy where the nipple and/or areola are removed.
O
- Oncology: The branch of medicine concerned with the study, diagnosis, treatment, and prevention of cancer.
- Oophorectomy: Surgical procedure to removal the ovary/ovaries.
- Osteoporosis: A condition characterised by thinning and weakening bones, leading to pain and fractures.
- Ovarian Ablation: The stopping of estrogen production by surgically removing the ovaries or dosing ovaries with radiation.
P
- PARP Inhibitor: PARP stands for poly adenosine diphosphate-ribose polymerase, a type of enzyme that helps repair DNA damage in cells. PARP inhibitors are a targeted therapy and work by preventing cancer cells from repairing, allowing them to die.
- Pathologist: A doctor who studies fluids, tissues or organs taken from the body to determine results.
- Pharmaceutical Benefits Scheme (PBS): A government-funded program in Australia that provides financial assistance for eligible individuals to cover the cost of selected medications.
- Plastic Surgeon: A surgeon qualified to repair or reconstruct a body part. Plastic Surgeons correct physical defects and rebuild parts of the body that have been damaged by trauma or disease.
- Peripheral Neuropathy: Numbness, weakness, tingling, or pain in the hands and feet caused by damage to peripheral nerves.
- Peripherally inserted central catheter (PICC): A line inserted into a vein in the arm near the elbow and travels into a larger vein near the heart.
- Port: A very slender, flexible tube implanted under the skin in the chest wall that feeds directly into one of the major veins near the heart used to give chemotherapy drugs without having to find a suitable vein each time.
- Personalised medicine: Tailored treatments to achieve the best patient outcome for individual patients, rather than treating patients with a 'one size fits all' approach.
- Precision medicine: A tailored approach to disease prevention and treatment that considers differences in people’s genes, environments, and lifestyles, underpinned by genetic and genomic testing (sequencing).
- Preimplantation Genetic Diagnosis (PGD): is a laboratory procedure used in conjunction with in vitro fertilization (IVF) to reduce the risk of passing on inherited conditions.
- Previvor: A survivor of a predisposition (or increased risk) for a disease, such as cancer.
- Primary Cancer/ Site: The location of the original cancer. Cells from the primary cancer may break away and be carried to other parts of the body, where secondary cancers form.
- Profunda Artery Perforator Flap: A procedure that uses the skin and fat of the posterior thigh as a donor site for breast reconstruction.
- Progesterone: A sex hormone primarily produced by the ovaries that prepares the uterus for pregnancy.
- Prophylactic (or Preventive) Bilateral Mastectomy (PBM): The removal of both healthy breasts as a preventative procedure to reduce the risk of future diagnosis of breast cancer.
- Prophylactic (or Preventative) Oophorectomy: The removal of the ovaries as a preventative procedure to reduce the risk of future diagnosis of ovarian cancer.
- Prophylactic (or Preventative) Salpingo: The removal of the fallopian tubes as a preventative procedure to reduce the risk of future diagnosis of ovarian cancer.
- Prophylactic (or Preventative) Salpingo Oophorectomy (PSO):The removal of the fallopian tubes and ovaries as a preventative procedure to reduce the risk of future diagnosis of ovarian cancer.
R
- Radiation Oncologist: A doctor who specialises in treating cancer with radiotherapy.
- Radiation Tattoos: Tiny skin markings put on your breast skin. These marks help your radiation therapist aim the radiation precisely where it's needed during the planning process.
- Radiation Therapy: An operation that cuts out the cancer and a larger area of normal tissue all around the cancer.
- Radical Local Excision: An operation that cPuts out the cancer and a larger area of normal tissue all around the cancer.
- Recurrence: The return of a disease after a period of improvement.
- Recurrent Cancer: A cancer that grows from the cells of a primary cancer that have evaded treatment.
- Remission: The time when the symptoms of the cancer reduce or disappear. A partial remission is when there has been a significant improvement in the cancer. A complete remission is when there is no evidence of active disease.
- Risk Factor: Something that may increase a person’s chance of developing a disease. These can be behaviour (changeable), biological (physical characteristics), genetic (inherited) or environmental (based on where you live).
S
- Screening: An organised program (using tests, examinations or other procedures) to identify disease such as cancer, or changes which may later develop into disease such as cancer, before symptoms appear.
- Seroma: A fluid collection under a wound that may need draining after surgery.
- Sentinel Lymph Node: The first lymph node to which cancer cells are most likely to spread from a primary tumour.
- Sentinel Lymph Node Biopsy (SLNB): A procedure where the sentinel lymph nodes are identified, removed, and pathologically examined to determine whether cancer cells are present.
- Simulator: A machine that takes x-rays to help pinpoint where radiotherapy should be targeted.
- Somatic cells: Somatic means “body”, so these are the cells that make up the internal organs, skin, bones, blood and connective tissue of the body (everything except the sperm and egg cells).
- Somatic mutations: A genetic change or mutation in a cell that occurs after a person is born
- Stage: The stages of development in cancer are used to describe the spread of solid tumours. It evaluates how far the cancer has grown and spread at the time of diagnosis.
- Superior Gluteal Artery Perforator Flap (SGAP flap): A type of breast reconstruction which takes tissue (skin and fat) from the upper buttock. The gluteal muscles are preserved, and donor site scar is hidden in underwear.
- Surgical Oncologist: A doctor who specialises in the surgical treatment of cancer.
- Survivorship: The health and life of a person with cancer beyond the diagnosis and treatment phases. It includes issues related to follow-up care, late effects of treatment, second cancers, and quality of life.
- Systemic Therapy: Treatments, such as hormone therapy and chemotherapy, that travel through the bloodstream and reach all cells throughout the body.
T
- Tamoxifen: A hormone therapy drug that blocks the effects of oestrogen in cancer cells, used as a treatment for oestrogen-receptive and progesterone-receptive cancers.
- Targeted therapy: Drugs that target specific cancer cell proteins that control how cancer cells grow, divide, and spread.
- Tomosynthesis: A three-dimensional x-ray mammogram that provides high-resolution images of the breast for monitoring and early detection and diagnosis.
- Transverse Rectus Abdominous Myocutaneous Flap (TRAM Flap): A type of reconstructive breast surgery where skin, fat and muscle from the abdomen are used to recreate breast tissue.
- Transverse Myocutaneous Gracilis Flap (TMG Flap): A breast reconstruction method using part of the gracilis muscle from the inner thigh region to create a small sized breast.
- Tumour: An abnormal mass of tissue that forms when cells grow and divide more than they should or do not die when they should. Tumours can be cancerous and can spread to over parts of the body (malignant) or noncancerous (benign).
- Tumour Markers: Chemicals produced by cancer cells and released into the blood. These may suggest the presence of a tumour in the body.
- Tumour Suppressor Genes: Genes whose protein products are involved with the rate of cell division, cell death, and DNA repair processes. When these genes are mutated, cells can grow out of control, which can lead to the presence of various types of cancer.
- Tumour Testing (also known as somatic testing): Usually done after a person has been diagnosed with cancer and looks for genetic mutations in the tumour or cancer cells. These tests are not intended to give information about inherited cancer risk.
U
- Ultrasound: (also known as sonography or diagnostic medical sonography): An imaging method that uses high-frequency sound waves to produce relatively precise images of structures within your body.
V
- Variant of Unknown Significance (also known as unclassified variant or variant of uncertain significance): A variation in a genetic sequence for which the association with disease risk is unclear.
W
- Wide local excision: Surgical removal of cancer and some surrounding healthy tissue.
