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Yanovich R.,Israel Defense Forces | Yanovich R.,Heller Institute of Medical Research | Evans R.K.,U.S. Army | Friedman E.,Susanne Levy Gertner Oncogenetics Unit | And 4 more authors.
Clinical Orthopaedics and Related Research | Year: 2013

Background: With bone resorption rates greater than formation, stress fracture pathogenesis plausibly involves bone remodeling imbalance. If this is the case, one would anticipate serum levels of bone turnover markers would be higher in patients with stress fractures than in those without. Questions/purposes: We therefore asked whether: (1) bone turnover markers differ between soldiers who will or will not have stress fractures during basic training; (2) bone turnover markers change during basic training; and (3) serial bone formation or bone resorption markers differ between subjects with and without stress fractures during basic training? Methods: We performed serial determinations of serum bone formation (bone alkaline phosphatase [BAP] and procollagen type I amino-terminal propeptide [PINP]), and resorption (tartrate-resistant acid phosphatase [TRAP5b] and cross-linked collagen telopeptide [CTx]) biomarkers, measured at 2- to 4-week intervals (during 18 weeks) in 69 male soldiers in the Israeli Defense Forces during elite basic training. Twenty-two soldiers (32%) were diagnosed with stress fractures. The mean training week at diagnosis was 8.0 ± 2.0 weeks. Results: We observed no differences in bone turnover markers between soldiers with and without stress fractures. During basic training, the mean values of all subjects for bone turnover markers (BAP, PINP, and CTx) changed in comparison to their mean levels at induction (43.9 versus 37.3 μg/L, 110.4 versus 78.0 μg/L, 1.4 versus 1.1 ng/mL, respectively). We found no changes in bone formation and resorption markers between subjects with and without stress fractures. Conclusions: These specific bone turnover markers cannot be considered as either diagnostic or predictive tools for stress fracture detection in young male military recruits. Level of Evidence: Level II prognostic study. See the Guidelines for Authors for a complete description of levels of evidence. © 2012 The Association of Bone and Joint Surgeons®.

Schayek H.,Susanne Levy Gertner Oncogenetics Unit | De Marco L.,Federal University of Minas Gerais | Starinsky-Elbaz S.,Susanne Levy Gertner Oncogenetics Unit | Rossette M.,Federal University of Minas Gerais | And 5 more authors.
Cancer Genetics | Year: 2016

In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil. © 2016 Elsevier Inc.

Yanovich R.,Heller Institute of Medical Research | Friedman E.,Susanne Levy Gertner Oncogenetics Unit | Friedman E.,Tel Aviv University | Milgrom R.,Susanne Levy Gertner Oncogenetics Unit | And 4 more authors.
Journal of Sports Science and Medicine | Year: 2012

To investigate the association of polymorphisms within candidate genes which we hypothesized may contribute to stress fracture predisposition, a case-control, cross-sectional study design was employed. Genotyping 268 Single Nucleotide Polymorphisms-SNPs within 17 genes in 385 Israeli young male and female recruits (182 with and 203 without stress fractures). Twenty-five polymorphisms within 9 genes (NR3C1, ANKH, VDR, ROR2, CALCR, IL6, COL1A2, CBG, and LRP4) showed statistically significant differences (p < 0.05) in the distribution between stress fracture cases and non stress fracture controls. Seventeen genetic variants were associated with an increased stress fracture risk, and eight variants with a decreased stress fracture risk. None of the SNP associations remained significant after correcting for multiple comparisons (false discovery rate-FDR). Our findings suggest that genes may be involved in stress fracture pathogenesis. Specifically, the CALCR and the VDR genes are intriguing candidates. The putative involvement of these genes in stress fracture predisposition requires analysis of more cases and controls and sequencing the relevant genomic regions, in order to define the specific gene mutations. © Journal of Sports Science and Medicine.

Laitman Y.,Susanne Levy Gertner Oncogenetics Unit | Vaisman Y.,Susanne Levy Gertner Oncogenetics Unit | Feldman D.,The Meirav Feldshaw Clinic for high risk women | Helpman L.,The Meirav Feldshaw Clinic for high risk women | And 10 more authors.
Clinical Genetics | Year: 2014

The frequency of BRCA1 and BRCA2 mutations is higher in Israel than in almost all other countries. One strategy to reduce the burden of hereditary breast and ovarian cancers is to offer genetic testing followed by risk-reducing surgery (mastectomy and salpingo-oophorectomy) for mutation carriers. The extent to which Israeli women who carry mutations undergo these surgeries is not well characterized. Israeli women who are BRCA1 or BRCA2 mutation carriers and followed at a single high-risk clinic were asked to complete a questionnaire detailing their clinical histories at the time of genetic results disclosure and a follow-up questionnaire was completed 18 or more months thereafter. A total of 205 mutation carriers completed the questionnaires. Of 170 women with no cancer history, 84 (49%) had a risk-reducing bilateral salpingo-oophorectomy and 22 (13%) had a risk-reducing mastectomy. Five of 35 (14.3%) women with breast cancer opted for contralateral mastectomy. Approximately one half of Israeli women with a BRCA1 or BRCA2 mutation opt for risk-reducing oophorectomy, but the rate of risk-reducing mastectomy is only 13%. © 2013 John Wiley & Sons A/S.

Laitman Y.,Susanne Levy Gertner Oncogenetics Unit | Boker-Keinan L.,Israel National Cancer Registry INCR | Boker-Keinan L.,Haifa University | Berkenstadt M.,Institute of Human Genetics | And 7 more authors.
Cancer Genetics | Year: 2016

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. © 2015 Elsevier Inc.

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