کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2109752 1083886 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers
ترجمه فارسی عنوان
خطر برای سرطان در حال پیشرفت در حامل های جهش هتروزیگوت ATM، BLM و FANCC فلسطین اشغالی
کلمات کلیدی
خطرات سرطان؛ BLM؛ ATM؛ FANCC؛ اتوزومال مغلوب؛ سندروم سرطانی ارثی؛ جهش های بنیانگذار
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی

Cancer risks in heterozygous mutation carriers of the ATM, BLM, and FANCC genes are controversial. To shed light on this issue, cancer rates were evaluated by cross referencing asymptomatic Israeli heterozygous mutation carriers in the ATM, BLM, and FANCC genes with cancer diagnoses registered at the Israeli National Cancer Registry (INCR). Comparison of observed to expected Standardized Incidence Rates (SIR) was performed. Overall, 474 individuals participated in the study: 378 females; 25 Arab and 31 Jewish ATM carriers, 152 BLM carriers, and 170 FANCC carriers (all Ashkenazim). Age range at genotyping was 19–53 years (mean + SD 30.6 + 5 years). In addition, 96 males were included; 5, 34, and 57 ATM, BLM, and FANCC mutation carriers, respectively. Over 5–16 years from genotyping (4721 person/years), 15 new cancers were diagnosed in mutation carriers: 5 breast, 4 cervical, 3 melanomas, and one each bone sarcoma, pancreatic, and colorectal cancer. No single cancer diagnosis was more prevalent then expected in all groups combined or per gene analyzed. Specifically breast cancer SIR was 0.02–0.77. We conclude that Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Genetics - Volume 209, Issue 3, March 2016, Pages 70–74
نویسندگان
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