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 ForeSENTIA Breast/Genecological panel tests for single nucleotide variants, insertions, deletions, copy number alterations, and rearrangements in 48 genes which are commonly found in gynecological cancers such as breast, ovarian, and others. Different risk factors can contribute to the development of gynecological cancers such as inheritance, increase in age, and environmental factors. Identifying the genetic alterations that can contribute to cancer progression can help in therapy selection and re-evaluation. There are numerous FDA/EMA-approved therapies for gynecological cancers depending on the type of cancer and the mutations identified.

 

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

 

Recommendations by professional bodies:

NCCN recommends that all patients with diagnosed endometrial cancer should be tested for MSI (NCCN, 2018)

 

The International Society of Gynecological Pathology (ISGyP) has recommended testing for MMR status/MSI in all endometrial carcinoma samples, irrespective of age (Cho et al., 2019)

 

MSI testing is recommended in ovarian, cervical, and endometrial cancer patients (Luchini et al., 2019)

 

References and more information: 

  1. 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.

NCCN Guidelines V 1.2018 Uterine Neoplasms. https://www2.trikobe.org/nccn/guideline/gynecological/english/uterine.pdf

Cho KR, Cooper K, Croce S, Djordevic B, Herrington S, Howitt B, Hui P, Ip P, Koebel M, Lax S, Quade BJ, Shaw P, Vidal A, Yemelyanova A, Clarke B, Hedrick Ellenson L, Longacre TA, Shih IM, McCluggage WG, Malpica A, Oliva E, Parkash V, Matias-Guiu X. International Society of Gynecological Pathologists (ISGyP) Endometrial Cancer Project: Guidelines From the Special Techniques and Ancillary Studies Group. Int J Gynecol Pathol. 2019 Jan;38 Suppl 1(Iss 1 Suppl 1):S114-S122. doi: 10.1097/PGP.0000000000000496. PMID: 29521846; PMCID: PMC6296838.

Luchini C, Bibeau F, Ligtenberg MJL, Singh N, Nottegar A, Bosse T, Miller R, Riaz N, Douillard JY, Andre F, Scarpa A. ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019 Aug 1;30(8):1232-1243. doi: 10.1093/annonc/mdz116. PMID: 31056702.

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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