Q: Which doctor should I consult for ruling out LFS in a family member?
A: Consult your primary care doctor or oncologist. They will refer you to a specialist for further evaluation and genetic testing as appropriate.
Q: What is the difference between p53 and tp53?
A: TP53 is the gene which is altered (mutated) in LFS. p53 is the protein coded for by the PP53 gene which is again abnormal in these individuals and does not perform its normal function.
Q: Will my child definitely get LFS if I carry TP53 germline mutation?
A: Every child of a person with a germline TP53 mutation is at a 50% chance of inheriting the mutation and having the cancer risks associated with LFS.
Q: How can I prevent LFS occurring in my child if I carry the LFS mutation?
A: The ideal time for determination of genetic risk and discussion and prenatal testing is before pregnancy. Genetic counseling (including discussion of potential risks to the child and other reproductive options) is provided to young adults who are affected or at increased risk. Successful preimplantation genetic diagnosis (PGD) of embryo has been reported in individuals with LFS.
Q: How is a pregnant woman with LFS managed?
A: Pregnant women should bring any concerning symptoms of cancer to the attention of their physicians. They can continue to have clinical breast exams and/or breast imaging if needed.
Q: Should the fetus undergo in utero screening for LFS?
A: There are no special recommendations for screening a fetus identified as having a germlineTP53 mutation. Once the baby is born, it can be evaluated and followed up regularly for signs of cancer.
