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Approximately 7% of breast and 13% of ovarian cancers are estimated to be due primarily to germline mutations in the BRCA1/2 genes.
Lynch syndrome is due to inherited changes (mutations) in genes that affect DNA mismatch repair, a process that fixes mistakes made when DNA is copied. These genes (MLHL, MSH2, MSH6, PMS2, and EPCAM) normally protect you from getting certain cancers, but some mutations in these genes prevent them from working properly.
Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor suppressor gene known as TP53.
A gene change in a bodys reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. Germline mutations are passed on from parents to offspring.
Frequency. Li-Fraumeni syndrome is thought to occur in 1 in 5,000 to 1 in 20,000 people worldwide.
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Germ line refers to the sex cells (eggs and sperm) that sexually reproducing organisms use to pass on their genomes from one generation to the next (parents to offspring). Egg and sperm cells are called germ cells, in contrast to the other cells of the body, which are called somatic cells.
Germline pathogenic variants are identified through a blood sample or with buccal cells from a saliva sample. Somatic variants are detected by either testing the tumor directly or liquid biopsy of a blood sample with circulating tumor cells to identify the DNA sequencing changes driving tumor growth.
Germline pathogenic variants are identified through a blood sample or with buccal cells from a saliva sample. Somatic variants are detected by either testing the tumor directly or liquid biopsy of a blood sample with circulating tumor cells to identify the DNA sequencing changes driving tumor growth.
Individuals with LFS have an approximately 50% of developing cancer by age 40, and up to a 90% percent chance by age 60, while females have nearly a 100% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer.
Germline mutation Lynch syndrome is an autosomal dominant disorder that is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes or loss of expression of MSH2 due to deletion in the EPCAM gene (previously called TACSTD1).

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