TEST:

TruSight Hereditary Cancer Panel

The identification of germline PVs significantly influences surgical decisions and systemic therapies. Genetic testing for patients with BC optimizes care, particularly in selecting candidates for PARPi in both early and advanced BC, improving management and prevention strategies.

Despite their frequent occurrence, lp-CHEK2 variants confer a negligible risk of breast cancer and show no association with other tumour types. Disease-causing CHEK2 variants, however, have implications for the clinical management of breast cancer patients according to current guidelines.

NGS TruSight Hereditary Cancer Panel analysis resulted in the FANCA:c.3931_3932delAG variant being classified as pathogenic according to bioinformatics analysis. The present study reports a pathogenic variant in FANCA that was found in a Mexican family with FA, in which one of the siblings exhibited a suggestive mucosa-assisted lymphoid tissue lymphoma, which is an atypical presentation of neoplasia associated with FA.

"This study demonstrates the accuracy of ancestry inference from clinical panel data offering a promising approach for understanding cancer health disparities in admixed populations."

We demonstrate the utility of an NGS standardization spike-in control to accurately detect large CNVs and exon level duplications greater than 2 exons. This approach reduces the minimum sequencing coverage required to appropriately measure these types of alterations, thus reducing the overall cost of sequencing. Additional work to increase sensitivity and lower IS input level will be discussed.

116 patients with a confirmatory primary diagnosis of TNBC (N= 75) and HGSOC (N= 41) were included. A higher Native American ancestry (NAM) proportion was observed in the hereditary group across the cohort (58% vs 45.2%). Among TNBC patients, hereditary cases exhibited a higher NAM ancestry mean (0.50 (SD, 0.14)).

We report a comprehensive systematic review in literature of ILC with papillary features, with molecular characterization of our case ongoing. Awareness of this variant is critical to avoid misdiagnosis with papillary carcinomas and to ensure appropriate management for patients. Useful diagnostic clues include the presence of discohesive, monotonous carcinomatous cells associated with fibrovascular cores and/or adjacent foci of classic ILC/LCIS, which should prompt staining for E-cadherin/beta-catenin/p120.

This study demonstrates the utility of using a targeted gene panel for genetic ancestry estimation in clinical settings. Our approach revealed significant associations between genetic ancestry and the prevalence of specific germline variants in Colombian women with TNBC and HGSOC, highlighting the potential of this methodology to uncover novel insights in admixed populations.

Thisl data suggests that a simpler sequencing solution with appropriate bioinformatics could allow clinical laboratories with limited technical and capital resources to perform germline and possibly somatic testing in-house; use of this technology may also serve to reduce costs for labs currently performing these tests. While some labs or clinics can outsource their NGS diagnostics if such commercial options are available, these options may not be possible where transport of specimens is logistically difficult or if access to technology is limited. A simpler process for NGS testing could improve access to guideline-based care in both remote and economically disadvantaged areas, resulting in better treatment outcomes as well as increased global healthcare equity.

Our data suggests that this application could allow smaller clinical laboratories which are currently outsourcing their NGS diagnostics to perform genetic testing in-house. Use of a simpler process for NGS testing could improve access to guideline-based care in remote and economically disadvantaged areas, resulting in better treatment outcomes as well as increased global healthcare equity. Further testing of this technology is warranted to further assess its impact on patient care.

BACKGROUND: In early-stage triple negative breast cancer (TNBC), the addition of carboplatin(CBDCA) to neoadjuvant chemotherapy (CT) increases pathologic complete response (pCR)and relapsed-free survival... The addition of CBDCA to standard CT was significantly associated with pCRand RFS but not OS, consistent with the phase III data. The benefit in terms of RFS wasindependent of the presence and the type of pathogenic germline alterations.