Mapped which inherited cancer variants recur in which Israeli communities, and showed that outside the Ashkenazi founder panel there is no shortcut: you have to sequence.
Eitan Friedman's oncogenetics work at Sheba Medical Center's Meirav clinic is the systematic survey of what inherited cancer risk looks like across Israel's communities. With Laitman and colleagues he genotyped high-risk Ashkenazi, Balkan, North African, Yemenite and Asian (Iraqi and Iranian) Jews and found community-specific recurring variants: BRCA1 Tyr978X in 23 of 892 people of Iraqi and Iranian origin, BRCA1 c.981delAT in 7 of 264 of North African origin, BRCA1 A1708E in 8 of 282 of Balkan origin. The same group's study of 250 ethnically diverse high-risk Israeli families, screened after the common Jewish founders were excluded, found 19 different pathogenic BRCA1/2 variants and concluded that there are no predominant recurring variants across these populations, which is the argument for sequencing rather than a founder panel outside the Ashkenazi population. His recent work covers hormone therapy after oophorectomy, prostate screening in male carriers and breast surveillance in young carriers.
| Title | Journal | Year |
|---|---|---|
| Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel | Breast Cancer Research and Treatment | 2011 |
| Recurring founder mutations in BRCA1 and BRCA2 in ethnically diverse Jewish populations | Breast Cancer Research and Treatment | 2012 |
Shares Founder variant, Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2, Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD) and the tags clinician-scientist, genetics.
Shares Founder variant, Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing and the tags clinician-scientist, genetics.
Shares Tel Aviv University, Sheba Medical Center and the tag clinician-scientist.
Shares Tel Aviv University, Sheba Medical Center and the tag clinician-scientist.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Ovarian cancer.
Shares the tags clinician-scientist, genetics.
Shares the tags clinician-scientist, genetics.
Shares Inherited risk is mostly unidentified, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Ovarian cancer.