| STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Geno
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Mag
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Summary
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| (C;T)
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5.8
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STK11 gene mutation associated with Peutz-Jeghers syndrome
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| (T;T)
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0
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common in clinvar
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Very rare condition; false positives are possible. This is a genotype with recommended actions if clinically confirmed. In brief:
- Peutz-Jeghers syndrome (PJS) is associated with mucocutaneous pigmentation (for example, dark spots near the lips), gastrointestinal polyps, and significantly higher risk for certain types of cancers.
- In women, breast and/or ovarian cancer risk may be reduced with drugs (tamoxifen) or surgery (prophylatic mastectomy and oopherectomy).
- In most guidelines, it is recommended to have a baseline colonoscopy and gastro-duodenoscopy, followed by colonoscopy and gastro-duodenoscopy every 2-5 years from age 20-25 and small bowel video capsule endoscopy (VCE) or MRI/enteroclysis every 2-4 years.
- Women may wish to start annual mammography at age 30, and are recommended to begin annual mammography by age 40.
- Patients should have annual physical exams (including testicular palpitation) and hemoglobin analysis as well as annual pancreatic MRI and endoscopic ultrasonography every 1-2 years from age 30. Women should have annual pelvic exams, cervical smears, transvaginal ultrasonagraphy, and CA-125 monitoring started at age 25-30, though some guidelines recommend to begin as early as age 18.
- Genetic testing can be offered to family members of patients with PJS to clarify their genetic risk and non-carriers can be released from additional screening.
The full ClinGen Actionability report about Peutz-Jeghers syndrome (PJS) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
