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GTR Home > Tests > Rapid Hereditary Breast Cancer Test

Indication

This is a clinical test intended for Help: Diagnosis, Therapeutic management

Clinical summary

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Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. \n\nIn its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.\n\nA small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.\n\nIn some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. [from MedlinePlus Genetics]

Conditions tested

Target population

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Establish a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making. Determine therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene alterations (eg, BRCA1, BRCA2) in selected tumor types. Evaluation for patients with breast cancer who have a personal history suggestive of a hereditary breast or gynecological cancer syndrome. Identifying genetic variants associated with increased risk for breast cancer, allowing for predictive testing and appropriate screening of at-risk family members.

Citations

  • American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. - PubMed ID: 17392385
  • BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. - PubMed ID: 20301425
  • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. - PubMed ID: 25741868
  • Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. - PubMed ID: 30875085
  • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019. - PubMed ID: 31487681
  • Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. - PubMed ID: 33406487
  • Howlader N, Noone AM, Krapcho M. SEER Cancer Statistics Review, 1975-2018, National Cancer Institute. Updated April 2021. Accessed May 11, 2023. Available at https://seer.cancer.gov/csr/1975_2018/
  • Idos G, Valle L. Lynch syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated February 2, 2021. Accessed May 11, 2023 Available at www.ncbi.nlm.nih.gov/books/NBK1211/

Clinical validity

Help

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations

Guidance for management

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Guidance for selecting a drug therapy and/or dose

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Predictive risk information for patient and/or family members

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Clinical resources

Practice guidelines

  • NICE, 2023
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

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