10名診斷患有卵巢癌和乳腺癌的婦女有四名有已知致癌基因的一個(gè)突變種，這項(xiàng)新的研究論文發(fā)表在PLoS One雜志上,。
耶魯大學(xué)研究人員早些時(shí)候發(fā)現(xiàn)KRAS基因變異是預(yù)測(cè)婦女發(fā)展患有致命性卵巢癌風(fēng)險(xiǎn)的遺傳標(biāo)記基因,，但有關(guān)KRAS基因變異的診斷價(jià)值曾有過相互矛盾的研究。
論文主要作者,、放射治療學(xué)副教授Joanne B. Weidhaas說：這項(xiàng)研究結(jié)果更加證明這種基因測(cè)試可以幫助診斷婦女患卵巢癌的風(fēng)險(xiǎn),。
另外，美國俄亥俄州立大學(xué)的科學(xué)家領(lǐng)導(dǎo)研究小組分析了患有卵巢癌和乳腺癌婦女并不存在任何其他已知的癌癥標(biāo)記物的變異。并且研究發(fā)現(xiàn)39％的婦女具有KRAS基因變異,。（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.
