Hereditary cancer syndromes: if you look, you will find them.

摘要: H ereditary cancer syndromes are estimated to account for up 10% of all new diagnoses in children and adults [1–4]. Given the current incidence pediatric cancer, this translates greater than 1,300 United States Canada diagnosed each year with a related hereditary syndrome. However, widely quoted rate is just an estimate extrapolated from most common cancers known be associated inherited mutations has not been systematically investigated. One publication last described population prevalence familial based on 33,197 eligible respondents ages 18–64 years old 2005 California Health Interview Survey [5]. The investigators who conducted survey assigned 14.6% cohort as having moderate risk twofold increase 7.7% strong five sevenfold cancer. A similar type population-based study determine true yet performed. Moreover, one could easily speculate that much more likely due underlying genetic causes older have diminishing DNA repair capability longer environmental exposures. best ways identify predisposition syndrome obtain accurate family history. Due immediate life-threatening nature diagnosis (and its accompanying emotional toll), discussions newly patient’s must focus treatment strategies, rightly so. Following diagnosis, coordination staging CT scans, port placements, chemotherapy orders often reduces time needed clinicians very detailed collection history ultimately families would benefit clinical genetics referrals even potentially participate research. In addition history, can suggested by specific tumor or pattern multiple single individual [6–8]. For example, extremely high percentage patients bilateral Wilms will mutation WT genes (Wilms Tumor Syndrome). More 80% adrenocortical carcinomas (ACCs) TP53 germline (Li-Fraumeni Syndrome), higher choroid plexus carcinomas. Eighty percent retinoblastoma 20% unilateral RB gene. Over 70% metastatic paragangliomas pheochromocytomas may harbor SDHB (Familial Pheochromocytoma/Paraganglioma Approximately one-third rhabdoid INI1/SMARCB1 (Rhabdoid Predisposition Twelve gastrointestinal tumors (GISTs) SDH genes. Even hepatoblastoma carrying APC Adenomatous Polyposis [FAP] Cancers usually seen such colorectal thyroid also indicate list seems grow every day. issue Pediatric Blood & Cancer, Knapke et al. publish first systematic assessments embedding certified counselor within oncology follow-up clinic. Using approach, they accurately determined total 370 childhood survivors were appropriate referral screening. As her colleagues report, help their dedicated counselor, surprising 29% qualified counseling. majority these (61%) while accounted 18%. was designed results 109 testing, so we do know how many actually resulted families. Nevertheless, fact found over quarter survivor met eligibility remarkable. consisted at least 5 underestimate testing early deaths certain patients. instance, no identified