SCIENTIFIC BACKGROUND

AKT1, ATM, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CHEK2, CTNNB1, DICER1, EGFR, ERBB2, ERBB3, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXA1, FOXL2, GATA3, KIT, KRAS, MAP3K1, MET, MLH1, MRE11A, MSH2, MSH6, MTOR, NBN, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAD51C, RAD51D, RAF1, RET, RUNX1, SMAD4, TP53

Category:

Scientific Background

The NeoThetis Breast/Gynecological panel can test for genetic alterations which are commonly found in gynecological cancers such as breast, ovarian and others. Different risk factors, such as inheritance, increasing age, and environmental factors, can contribute to the development of gynecological cancers. Identifying the genetic alterations in circulating tumor DNA (ctDNA) that can contribute to cancer progression can help in therapy selection and re-evaluation. There are numerous FDA/EMA approved therapies for gynaecological cancers depending on the type of cancer.

 

Microsatellite instability (MSI) immunotherapy biomarker is also tested in this panel. The FDA approved immunotherapy drug pembrolizumab is available for treating patients with MSI-high status. Pembrolizumab has also been approved by the EMA for endometrial cancer.

 

How many genes are tested in this panel?

48 genes

 

Recommendations by professional bodies

“ESR1 mutations should preferentially be tested in ctDNA. ERBB2 amplification and NTRK fusions only when advanced tissue biopsy not available” (Pascual et al., 2022; ESMO recommendations).

 

References and more information: 

Pascual J, Attard G, Bidard FC, Curigliano G, De Mattos-Arruda L, Diehn M, Italiano A, Lindberg J, Merker JD, Montagut C, Normanno N, Pantel K, Pentheroudakis G, Popat S, Reis-Filho JS, Tie J, Seoane J, Tarazona N, Yoshino T, Turner NC. ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2022 Aug;33(8):750-768. doi: 10.1016/j.annonc.2022.05.520. Epub 2022 Jul 6. PMID: 35809752.

GENES

AKT1, ATM, BARD1, BRAF, BRCA1, BRCA2, BRIP1, CHEK2, CTNNB1, DICER1, EGFR, ERBB2, ERBB3, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXA1, FOXL2, GATA3, KIT, KRAS, MAP3K1, MET, MLH1, MRE11A, MSH2, MSH6, MTOR, NBN, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PIK3CB, PMS2, POLE, PTEN, RAD51C, RAD51D, RAF1, RET, RUNX1, SMAD4, TP53
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