Women’s Cancer Precision Panel
Female breast cancer has now surpassed lung cancer as the leading cause of global cancer incidence in 2020, being the fifth leading cause of cancer mortality worldwide. Although breast cancer ranks among the cancer types with the highest heritability, pathogenic variants in high and moderate-penetrance genes are individually rare in the general population and are found approximately in 5-10% of unselected patients with breast cancer. Such variants are more likely to be present in patients who have a strong family history of breast cancer, younger patients and patients who have triple-negative breast cancer.
Ovarian cancer ranks eighth in cancer incidence and cancer deaths among women worldwide. The strongest risk factor for ovarian cancer is a family history of breast or ovarian cancer, and approximately 25% of all ovarian cancers are caused by a heritable genetic condition. In about 65% of these cases, the genetic abnormality is a germline pathogenic variant in BRCA1/2 genes. Nevertheless, several other suppressor genes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome (MLH1, MSH2, PMS2, MLH6, and EPCAM), PALB2, BRIP1, RAD51C and RAD51D. Many clinical practices guidelines recommend that all women diagnosed with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer susceptibility genes.
Uterine corpus cancer is the sixth most commonly diagnosed cancer in women. Over 90% of uterine cancers are endometrial. Hereditary endometrial cancer makes up approximately 2% to 5% of all cases. Inherited mutations in MMR genes diagnostic for Lynch syndrome and PTEN diagnostic for Cowden syndrome are the most common inherited syndromes known to increase a woman’s lifetime risk of endometrial cancer.
The role of germline testing for breast, ovarian or endometrial cancer has increased, with growing precision treatment implications and gene-specific management recommendations for carriers of germline variants related to increased risk of cancer.
As many of the oncologists are used to group and study the different cancer types in systems or specialities, the main objective of this product is to provide them with a more manageable diagnostic tool according to their field of knowledge.
The Igenomix Women’s Cancer Precision Panel is indicated in those cases where the physician is suspecting of a hereditary cancer syndrome. It is designed to diagnose adults with a personal or family history suggestive of inherited breast, ovarian or endometrial cancer, providing important information that may impact cancer treatment as well as cancer risk assessment and management.
- Identify pathogenic cancer susceptibility variants
- Maximize surveillance and preventive strategies for at risk individuals
- Provide options and strategies for targeted treatment, therapeutic planning, and clinical trials
- Perform risk assessment and genetic counselling for family members (cascade testing)
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