The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium - Concepedia

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The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

DOI Full Paper Access

77

Citations

14

References

2017

Year

Setareh Moghadasi, Huong Meeks, Maaike P.G. Vreeswijk, Linda AM Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig,

Journal of Medical Genetics

Abstract

Our results confirm that <i>BRCA1</i>*R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingo-oophorectomy should be considered based on family history.

References

	Year	Citations

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