Cancer Risk
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Hereditary breast and ovarian cancer (HBOC) syndrome can increase the chances of developing breast cancer and ovarian cancer. HBOC is caused by a DNA difference in the BRCA1 or BRCA2 gene and leads to a higher chance of developing certain cancers. The two most common cancers linked to HBOC are breast cancer and ovarian cancer.
Variants
BRCA1
- NM_007294.3(BRCA1):c.5277+1delG
- NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly)
- NM_007294.3(BRCA1):c.4964_4979delCTGGCCTGACCCCAGA (p.Ser1655Terfs)
- NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter)
- NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter)
- NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter)
- NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter)
- NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe)
- NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs)
- NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs)
- NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs)
- NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs)
- NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs)
- NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs)
- NM_007294.3(BRCA1):c.5277+1G>A
- NM_007294.3(BRCA1):c.5277+1G>T
- NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs)
- NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs)
BRCA2
- NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His)
- NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter)
- NM_000059.3(BRCA2):c.3265C>T (p.Gln1089Ter)
- NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter)
- NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys)
- NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs)
- NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs)
- NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs)
- NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs)
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Lynch syndrome increases the chances of developing colon cancer and uterine cancer. People with Lynch syndrome have a higher chance of developing certain cancers. The two most common cancers linked to Lynch syndrome are colon cancer and uterine cancer.
Variants
MLH1
- NM_000249.3(MLH1):c.1897-2A>G
MSH2
- NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)
- NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro)
MSH6
- NM_000179.2(MSH6):c.1634_1637del (p.Lys545fs)
- NM_000179.2(MSH6):c.892C>T (p.Arg298Ter)
- NM_000179.2(MSH6):c.1637_1638delAG (p.Glu546Glyfs)
- NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp)
PMS2
- NM_000535.6(PMS2):c.903G>A (p.Lys301=)
- NM_000535.6(PMS2):c.903G>T (p.Lys301Asn)
- NM_000535.5(PMS2):c.861_864delACAG (p.Arg287Serfs)
- NM_000535.6(PMS2):c.1840A>T (p.Lys614Ter)
- NM_000535.6(PMS2):c.856delG (p.Asp286fs)
Carrier Status
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Cystic fibrosis (CF) carriers do not have CF but their children might. CF is an inherited condition that leads to a buildup of thick, sticky mucus that damages the lungs, pancreas, and other organs. (3) This causes difficulty breathing and other potentially serious problems. If both biological parents are carriers of CF, then each of their children has a 1 in 4 chance of developing CF. Knowing whether they are a carrier of CF is especially important for people who are planning on having children.
Variants
CFTR
- NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)
- NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del)
- NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp)
- NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter)
- NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter)
- NM_000492.3(CFTR):c.3718-2477C>T
- NM_000492.3(CFTR):c.2988+1G>A
- NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)
- NM_000492.3(CFTR):c.254G>A (p.Gly85Glu)
- NM_000492.3(CFTR):c.1585-1G>A
- NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter)
- NM_000492.3(CFTR):c.579+1G>T
- NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro)
- NM_000492.3(CFTR):c.489+1G>T
- NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs)
- NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr)
- NM_000492.3(CFTR):c.2657+5G>A
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Sickle cell anemia carriers do not have sickle cell anemia but their children might. Sickle cell anemia is an inherited disease that affects red blood cells, which carry oxygen throughout the body. The disease causes red blood cells to change shape and no longer work well. That can lead to severe pain, vision problems, organ damage, stroke, and a shorter lifespan. If both biological parents are carriers of sickle cell anemia, then each of their children has a 1 in 4 chance of developing the condition. Knowing whether they are a carrier of sickle cell anemia is especially important for people who are planning on having children.
Variants
HBB
- NM_000518.5(HBB):c.20A>T (p.Glu7Val)
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Tay-Sachs carriers do not have Tay Sachs disease but their children might. Tay-Sachs disease is an inherited condition that leads to the deterioration of cells in the brain and spinal cord, typically leading to muscle weakness and death in early childhood. If both biological parents are carriers of Tay Sachs disease, then each of their children has a 1 in 4 chance of developing the disease. Knowing whether they are a carrier of Tay Sachs disease is especially important for people who are planning on having children.
Variants
HEXA
- NM_000520.5(HEXA):c.1421+1G>C
- NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs)
- NM_000520.5(HEXA):c.1073+1G>A
- NM_000520.5(HEXA):c.1073+1G>T
Heart and Blood Health
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Cardiomyopathy can cause serious heart problems, such as irregular heartbeat or heart failure. Cardiomyopathy is a heart disease that damages the heart muscle. This can cause problems ranging from shortness of breath to, in some cases, heart failure.
Variants
MYBPC3
- NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
- NM_000256.3(MYBPC3):c.3330+2T>C
- NM_000256.3(MYBPC3):c.3330+2T>G
- NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
- NM_000256.3(MYBPC3):c.1928-2A>G
- NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
MYH7
- NM_000257.3(MYH7):c.2722C>G (p.Leu908Val)
- NM_000257.3(MYH7):c.5135G>A (p.Arg1712Gln)
- NM_000257.3(MYH7):c.2717A>G (p.Asp906Gly)
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Familial hypercholesterolemia can lead to very high cholesterol and an increased chance of developing heart problems. FH is linked to very high levels of the bad form of cholesterol, known as LDL. If these high levels of LDL cholesterol are untreated, FH can increase the chances of having a heart attack and other serious heart problems.
Variants
APOB
- NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln)
- NM_000384.2(APOB):c.10580G>T (p.Arg3527Leu)
LDLR
- NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr)
- NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn)
- NM_000527.4(LDLR):c.1444G>T (p.Asp482Tyr)
- NM_000527.4(LDLR):c.2140+1G>A
- NM_000527.4(LDLR):c.2140+1G>T
- NM_000527.4(LDLR):c.1358+2T>A
- NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu)
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Hereditary hemochromatosis can lead to having too much iron in the blood. People with hereditary hemochromatosis can sometimes develop iron overload disorder, which happens when too much iron builds up in the body. Left untreated, elevated iron levels can lead to permanent organ damage.
Variants
HFE
- NM_000410.3(HFE):c.187C>G (p.His63Asp)
- NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)
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Hereditary thrombophilia can increase the chances of developing potentially dangerous blood clots. People with hereditary thrombophilia have a higher chance of developing blood clots inside veins when they shouldn’t. This can lead to health problems and, in some cases, be life-threatening.
Variants
F2
- NM_000506.4(F2):c.*97G>A
F5
- NM_000130.4(F5):c.1601G>A (p.Arg534Gln)