The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers

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• 作者：Yael Laitman^a ; Lital Boker-Keinan^b ; ^c ; Michal Berkenstadt^d ; Irena Liphsitz^b ; Daphna Weissglas-Volkov^e ; Liat Ries-Levavi^d ; Ifat Sarouk^f ; Elon Pras^d ; Eitan Friedman^a ; ^e ; ^{eitan.friedman@sheba.health.gov.il" class="auth_mail" title="E-mail the corresponding author} ; ^{eitan211@netvision.net.il" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Cancer risks ; BLM ; ATM ; FANCC ; autosomal recessive ; inherited cancer syndrome ; founder mutations
• 刊名：Cancer Genetics
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：209
• 期：3
• 页码：70-74
• 全文大小：182 K

文摘

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.