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Cancer syndromes are genetic predispositions to develop cancer. Genetic predisposition increases a person's chance to develop cancer during their lifetime, and at earlier stages in life. Most common types of cancer that can be genetically transmitted include breast, colorectar, gynecologic and endocrine cancers.[1] However, cancer syndrome cases only account for 5 to 10% of all cancer cases.[2]
This genetic predisposition is transmitted in a mendelian autosomal dominant manner. Autosomal dominant is one of several ways that a trait or disorder can be passed down in families. If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. One of the parents may often have the disease. [3]
Some familial cancer syndromes show autosomal dominant inheritance, which means that an affected person has a 50% chance of passing on the genetic mutation to each of his or her children. Other familial cancer syndromes show autosomal recessive inheritance, which means that both parents are usually not affected, but are carriers of a mutation for the condition. In autosomal recessive inheritance, each child born to parents who are carriers has a 25% chance of having the condition. When a person is diagnosed with a familial cancer syndrome, relatives should be examined for signs of the syndrome. Sometimes a person identified as having a familial cancer syndrome is the first person in the family to be affected. That person is able to pass the condition on to his or her children, but the parents and siblings are not affected. Depending on the syndrome, genetics professionals can determine who in the family is at risk.[2]
Cancer syndromes often show development of independent bilateral tumors, early onset of cancers and a high risk of one or several cancers.
Hereditary cancer tends to occur at an abnormally early stage in life Hereditary gene changes can be passed on to new generations Inheriting individuals of the same gene are at higher risk of certain cancers. Individuals aware of genetic predisposition can screen their cancers at earlier stages [4]
Sporadic cancer tends to occur at a later stage in life Happens sporadically due to chance or environmental factors Risk of cancer is conditioned to external factors Lack of preventive behaviors can sometimes lead individuals to ignore possible cancer syndromes at early stages [4]
According to several authorities in the subject, there are a few features an individual with genetic cancer predisposition can be on then lookout for: Two or more relatives on the same side of the family have had the same type of cancer Cancer is diagnosed at an earlier stage in life than usual More than one primary cancer is diagnosed in the individual (does not include recurring cancers) Cluster of cancers related to a known cancer syndrome develop [5]
Coming up with a cancer family tree for proper diagnosis of a given individual and future additions is recommended by experts. These cancer family trees should include thorough information that includes all family members from each side of the family as well as each cancer patient's specifics on the type of cancer they suffered from. It is also recommended conditions other than cancer are described and detailed as well for these could be somehow related to certain cancers. Cancer first-degree relatives like a parent, child, or sibling are comparatively more significant than a second degree relatives like grandparents, grandchildren, uncles, aunts, nieces, or nephews, and so on when determining possible cancer inheritance.[6] Generally speaking, the closer the relationship between family members with cancer, the more significant the presence of cancer may be in a family. Patients also have the alternative of undertaking a genetic test; however, the effects of such a test on a person's perception of his or her overall health may become disrupted. On line genetic testing specifically is questioned because it can become a double-edged weapon for the patient.
Genetic testing has proven effective in determining certain risk factors in someone with a family risk history, under correct and professional interpretation and medical guidance. Thanks to genetic testing, individuals can prevent future conditions and decrease risks. However, some point out the dangers of freely ordered genetic testing without medical counseling. “Although commercial genetic tests offer tantalizing glimpses into your hereditary makeup, the information they provide isn't all that useful for avoiding disease — and may even cause more harm than good”. [5] This concern has to do with the fact that non assessed testing leaves the patient without explanations about what the test really uncovers. An uneducated interpretation of a genetic test can cause more anxiety and fear in the patient than relief. Non supervised genetic testing can lead to acquiring a dangerous false sense of reassurance. “People who test negative for a particular disease risk might feel a false sense of reassurance. They might be less motivated to take steps to prevent the disease, even though there's no guarantee they won't get it.”[5]
Cancer in general presents one or more of the following symptoms depending on the type of cancer present in the patient: [6] Persistent cough, blood-tinged saliva, bronchitis, sinusitis, continuous diarrhea, blood in the stool, hemorrhoids, unexplained anemia, breast lump or breast discharge, testicles lumps, urinating changes, blood in the urine, hoarseness, changes in a wart or a mole, unusual vagina bleeding, persistent pain
Some of the most common hereditary cancer syndromes include: Hereditary breast-ovarian cancer syndrome (HBOC), Hereditary nonpolyposis colorectal cancer (HNPCC), Cowden Syndrome, Peutz–Jeghers syndrome
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