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Genomic characteris...
Genomic characterisation of hormone receptor-positive breast cancer arising in very young women.
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Luen, S J (author)
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Viale, G (author)
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Nik-Zainal, S (author)
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show more...
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Savas, P (author)
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Kammler, R (author)
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Dell'Orto, P (author)
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Biasi, O (author)
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Degasperi, A (author)
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Brown, L C (author)
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Láng, I (author)
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MacGrogan, G (author)
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Tondini, C (author)
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Bellet, M (author)
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Villa, F (author)
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Bernardo, A (author)
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Ciruelos, E (author)
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- Karlsson, Per, 1963 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology
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Neven, P (author)
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Climent, M (author)
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Müller, B (author)
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Joshum, W (author)
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Bonnefoi, H (author)
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Martino, S (author)
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Davidson, N E (author)
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Geyer, C (author)
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Chia, S K (author)
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Ingle, J N (author)
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Coleman, R (author)
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Solbach, C (author)
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Thürlimann, B (author)
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Colleoni, M (author)
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Coates, A S (author)
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Goldhirsch, A (author)
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Fleming, G F (author)
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Francis, P A (author)
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Speed, T P (author)
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Regan, M M (author)
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Loi, S (author)
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(creator_code:org_t)
- Elsevier BV, 2023
- 2023
- English.
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In: Annals of oncology : official journal of the European Society for Medical Oncology. - : Elsevier BV. - 1569-8041. ; 34:4, s. 397-409
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Very young premenopausal women diagnosed with hormone receptor-positive, HER2-negative (HR+HER2-) early breast cancer (EBC) have higher rates of recurrence and death for reasons that remain largely unexplained.Genomic sequencing was applied to HR+HER2- tumours from patients enrolled in the SOFT clinical trial to determine genomic drivers that are enriched in young premenopausal women. Genomic alterations were characterised using next-generation sequencing from a subset of 1,276 patients (deep targeted sequencing, N=1258; whole-exome sequencing in a young-age, case-control subsample, N=82). We defined copy number (CN) subgroups and assessed for features suggestive of homologous recombination deficiency (HRD). Genomic alteration frequencies were compared between young premenopausal women (<40 years) and older premenopausal women (≥40 years), and assessed for associations with distant recurrence-free interval (DRFI), and overall survival (OS).Younger women (<40 years, N=359) compared with older women (≥40 years, N=917) had significantly higher frequencies of mutations in GATA3 (19%vs16%) and CN-amplifications (47%vs26%), but significantly lower frequencies of mutations in PIK3CA (32%vs47%), CDH1 (3%vs9%), and MAP3K1 (7%vs12%). Additionally, significantly higher frequencies of features suggestive of HRD (27%vs21%), and a higher proportion of PIK3CA mutations with concurrent CN-amplifications (23%vs11%).Genomic features suggestive of HRD, PIK3CA mutations with CN-amplifications, and CN-amplifications associated with significantly worse DRFI and OS compared with those without these features. These poor prognostic features were enriched in younger patients: present in 72% of patients aged <35 years, 54% aged 35-39 years, and 40% ≥40 years. Poor prognostic features (N=584[46%]) vs none (N=692[54%]) had an 8-year DRFI of 84%vs94% and OS of 88%vs96%. Younger women (<40) had the poorest outcomes: 8-year DRFI 74%vs85% and OS of 80%vs93% respectively.These results provide insights into genomic alterations that are enriched in young women with HR+HER2-EBC, provide rationale for genomic subgrouping, and highlight priority molecular targets for future clinical trials.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- breast cancer
- genomics
- hormone receptor positive; prognosis
- young women
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Luen, S J
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Viale, G
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Nik-Zainal, S
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Savas, P
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Kammler, R
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Dell'Orto, P
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show more...
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Biasi, O
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Degasperi, A
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Brown, L C
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Láng, I
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MacGrogan, G
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Tondini, C
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Bellet, M
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Villa, F
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Bernardo, A
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Ciruelos, E
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Karlsson, Per, 1 ...
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Neven, P
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Climent, M
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Müller, B
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Joshum, W
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Bonnefoi, H
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Martino, S
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Davidson, N E
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Geyer, C
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Chia, S K
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Ingle, J N
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Coleman, R
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Solbach, C
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Thürlimann, B
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Colleoni, M
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Coates, A S
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Goldhirsch, A
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Fleming, G F
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Francis, P A
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Speed, T P
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Regan, M M
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Loi, S
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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Annals of oncolo ...
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Annals of Oncolo ...
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University of Gothenburg