Lynch H T, Smyrk T, Lynch J, Lanspa S, McGinn T, Cavalieri R J
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska.
Am J Gastroenterol. 1996 Mar;91(3):455-9.
To provide DNA-based genetic counseling to family members in the direct genetic lineage of a family fulfilling phenotypical criteria for the autosomal, dominantly inherited, attenuated familial adenomatous polyp (AFAP) syndrome. This enabled highly targeted cancer risk estimation based on cancer phenotype in concert with the presence or absence of the adenomatous polyposis coli (APC) germline mutation. Management recommendations could then be fully responsive to this syndrome's natural history.
Detailed family history with pathology verification of colonic polyps and cancer was performed on an extended AFAP kindred. Endoscopic gastrointestinal examinations enabled detailed knowledge of the syndrome's upper and lower gastrointestinal tract phenotype. Molecular genetic evaluation of DNA led to the identification of the APC germline mutation which co-segregated with the phenotype.
Forty-two members of this extended AFAP family underwent DNA testing, wherein 27 were found to harbor the APC germline mutation,thereby enabling precision in their genetic counseling. Anecdotal examples of this counseling experience, with particular attention to psychological reactions, as well as concerns about such issues as insurance and employer discrimination, have been described.
When DNA-based testing is offered to AFAP family members, genetic counselors must compassionately consider patients' psychological concerns when providing detailed risk status and available surveillance and management programs.
为符合常染色体显性遗传的 attenuated 家族性腺瘤性息肉（AFAP）综合征表型标准的家族直系遗传谱系中的家庭成员提供基于 DNA 的遗传咨询。这能够根据癌症表型并结合腺瘤性息肉病 coli（APC）种系突变的有无进行高度针对性的癌症风险评估。然后，管理建议可以完全符合该综合征的自然病史。
对一个扩展的 AFAP 家族进行了详细的家族史调查，并对结肠息肉和癌症进行了病理核实。内镜胃肠道检查有助于详细了解该综合征的上消化道和下消化道表型。对 DNA 进行分子遗传学评估，从而确定与表型共分离的 APC 种系突变。
这个扩展的 AFAP 家族的 42 名成员接受了 DNA 检测，其中 27 人被发现携带 APC 种系突变，从而能够在遗传咨询中做到精准。本文描述了这种咨询经历的一些实例，特别关注了心理反应以及对保险和雇主歧视等问题的担忧。
当为 AFAP 家族成员提供基于 DNA 的检测时，遗传咨询师在提供详细的风险状况以及可用的监测和管理方案时，必须富有同情心地考虑患者的心理担忧。
