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Genetics: Breast and Ovarian Cancer

Hereditary Breast Ovarian Cancer Syndrome (BRCA1/BRCA2)
What is hereditary breast ovarian cancer (HBOC) syndrome? HBOC syndrome is characterized by the following features in a family: An early age of onset of breast cancer (often before age 50) Family history of both breast and ovarian cancer Increased chance of bilateral cancers (cancer that develops in both breasts, or both ovaries, independently) or an individual with both breast and ovarian cancer An autosomal dominant pattern of inheritance (transmission through either the mother or father’s side of the...
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome The risk for breast cancer and many other forms of cancer is increased with Li-Fraumeni syndrome (LFS), a genetic autosomal dominant cancer syndrome. A diagnosis of LFS is made when all of the following characteristics are present in a family: Sarcoma at less than 45 years of age and A first-degree relative, such as parent, sibling, or child, with cancer at less than 45 years of age and A first- or second-degree relative (aunt, uncle, or grandparent) with cancer at less than 45 year...
Ovarian Cancer as Part of Lynch Syndrome
Ovarian Cancer as Part of Lynch Syndrome A woman is at increased risk for ovarian cancer if she has Lynch syndrome, also called hereditary nonpolyposis colon cancer (HNPCC). Lynch syndrome is an autosomal dominant genetic cancer syndrome. Having this syndrome means a woman has a 4 to 12 percent risk for ovarian cancer by about 42 years of age. About 30 percent of women diagnosed with ovarian cancer are diagnosed before age 40. A clinical diagnosis of Lynch syndrome is made when the following characteris...
Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome The risk for breast and ovarian cancer is increased with Peutz-Jeghers syndrome (PJS), a rare early-onset autosomal dominant disorder, associated with specific physical characteristics in addition to increased cancer risks. The features associated with Peutz-Jeghers syndrome may include the following: Melanocytic macules (dark blue or brown moles) These moles may be located around and/or in the mouth (including the lips), and around the eyes, nostrils, and anus. Dark moles may als...