10名诊断患有卵巢癌和乳腺癌的妇女有四名有已知致癌基因的一个突变种，这项新的研究论文发表在PLoS One杂志上。
耶鲁大学研究人员早些时候发现KRAS基因变异是预测妇女发展患有致命性卵巢癌风险的遗传标记基因，但有关KRAS基因变异的诊断价值曾有过相互矛盾的研究。
论文主要作者、放射治疗学副教授Joanne B. Weidhaas说：这项研究结果更加证明这种基因测试可以帮助诊断妇女患卵巢癌的风险。
另外，美国俄亥俄州立大学的科学家领导研究小组分析了患有卵巢癌和乳腺癌妇女并不存在任何其他已知的癌症标记物的变异。并且研究发现39％的妇女具有KRAS基因变异。（生物谷：Bioon.com）
doi:10.1371/journal.pone.0037891
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The KRAS-Variant Is Associated with Risk of Developing Double Primary Breast and Ovarian Cancer
Robert Pilarski1*, Divya A. Patel2, Jeffrey Weitzel3, Terri McVeigh4, Jemima J. Dorairaj4, Helen M. Heneghan4, Nicola Miller4, Joanne B. Weidhaas5, Michael J. Kerin4, Megan McKenna6, Xifeng Wu7, Michelle Hildebrandt7, Daniel Zelterman8, Sharon Sand3, Lee P. Shulman9
Purpose
A germline microRNA binding site-disrupting variant, the KRAS-variant (rs61764370), is associated with an increased risk of developing several cancers. Because this variant is most strongly associated with ovarian cancer risk in patients from hereditary breast and ovarian families (HBOC), and with the risk of premenopausal triple negative breast cancer, we evaluated the association of the KRAS-variant with women with personal histories of both breast and ovarian cancer, referred to as double primary patients.
Experimental Design
Germline DNA from double primary patients was tested for the KRAS-variant (n = 232). Confirmation of pathologic diagnoses, age of diagnoses, interval between ovarian cancer diagnosis and sample collection, additional cancer diagnoses, and family history were obtained when available. All patients were tested for deleterious BRCA mutations.
Results
The KRAS-variant was significantly enriched in uninformative (BRCA negative) double primary patients, being found in 39% of patients accrued within two years of their ovarian cancer diagnosis. Furthermore, the KRAS-variant was found in 35% of uninformative double primary patients diagnosed with ovarian cancer post-menopausally, and was significantly associated with uninformative double primary patients with a positive family history. The KRAS-variant was also significantly enriched in uninformative patients who developed more then two primary cancers, being found in 48% of women with two breast primaries plus ovarian cancer or with triple primary cancers.
Conclusions
These findings further validate the importance of the KRAS-variant in breast and ovarian cancer risk, and support the association of this variant as a genetic marker for HBOC families previously considered uninformative.
