Colorectal and endometrial cancer risk and age at diagnosis in BLMAsh mutation carriers

Hagit Schayek, Yael Laitman, Lior H. Katz, Elon Pras, Liat Ries-Levavi, Frida Barak, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Background: Biallelic BLM gene mutation carriers are at an increased risk for cancer, including colorectal cancer (CRC). Whether heterozygous BLM gene mutations confer an increased cancer risk remains controversial. Objectives: To evaluate CRC and endometrial cancer risk in BLM heterozygous mutation carriers. Methods: Ashkenazi Jews at high risk for colon or endometrial cancer, and endometrial cancer cases unselected for family history, were genotyped for the BLMAsh predominant mutation. Results: Overall, 243 high-risk individuals were included: 97 men with CRC (55.12 ± 12.3 years of age at diagnosis), 109 women with CRC (56.5 ± 13.7 years), 32 women with endometrial cancer (58.25 ± 13.4 years) and 5 women with both CRC and endometrial cancer. In addition, 120 unselected Ashkenazi women with endometrial cancer (64.2 ± 11.58 years) were genotyped. The BLMAsh mutation was present in 4/243 (1.65%) of high-risk patients; 2/208 with CRC (0.97%) 2/35 with endometrial cancer (5.4%), and 1/120 unselected endometrial cancer patients (0.84%). Notably, in high-risk cases, BLMAsh mutation carriers were diagnosed at a younger age (for CRC 47.5 ± 7.8 years, P = 0.32; endometrial cancer 49.5 ± 7.7 years, P = 0.36) compared with non-carriers. Conclusions: Ashkenazi Jews at high risk for CRC and endometrial cancer, and women with endometrial cancer have a higher rate of BLMAsh heterozygous mutation compared with the general population. BLMAsh heterozygous mutation carriers are diagnosed with CRC and endometrial cancer at a younger age compared to non-carriers. These observations should be validated and the possible clinical implications assessed.

Original languageEnglish
Pages (from-to)365-367
Number of pages3
JournalIsrael Medical Association Journal
Issue number6
StatePublished - 1 Jun 2017
Externally publishedYes


  • Ashkenazi Jews
  • Bloom syndrome
  • Colon cancer
  • Endometrial cancer
  • Inherited cancer predisposition

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Colorectal and endometrial cancer risk and age at diagnosis in BLMAsh mutation carriers'. Together they form a unique fingerprint.

Cite this