Loss of PTEN Expression, PIK3CA Mutations, and Breast Cancer Survival in the Nurses' Health Studies.


Journal

Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
ISSN: 1538-7755
Titre abrégé: Cancer Epidemiol Biomarkers Prev
Pays: United States
ID NLM: 9200608

Informations de publication

Date de publication:
04 10 2022
Historique:
received: 11 06 2022
revised: 28 06 2022
accepted: 29 07 2022
pubmed: 2 8 2022
medline: 6 10 2022
entrez: 1 8 2022
Statut: ppublish

Résumé

The relationships between PTEN loss and/or PIK3CA mutation and breast cancer prognosis remain controversial. We aim to examine the associations in large epidemiologic cohorts. We followed women with invasive breast cancer from the Nurses' Health Studies with available data on tumor PTEN expression (n = 4,111) and PIK3CA mutation (n = 2,930). PTEN expression was evaluated by IHC and digitally scored (0%-100%). Pyrosequencing of six hotspot mutations of PIK3CA was performed. We found loss of PTEN expression (≤10%) occurred in 17% of cases, and PIK3CA mutations were detected in 11% of cases. After adjusting for clinical and lifestyle factors, PTEN loss was not associated with worse breast cancer-specific mortality among all samples [HR, 0.85; 95% confidence intervals (CI), 0.71-1.03] or among estrogen receptor (ER)-positive tumors (HR, 0.99; 95% CI, 0.79-1.24). However, among ER-negative tumors, PTEN loss was associated with lower breast cancer-specific mortality (HR, 0.68; 95% CI, 0.48-0.95). PIK3CA mutation was not strongly associated with breast cancer-specific mortality (HR, 0.89; 95% CI, 0.67-1.17). Compared with tumors without PTEN loss and without PIK3CA mutation, those with alterations (n = 540) were not at higher risk (HR, 1.07; 95% CI, 0.86-1.34). However, women with both PTEN loss and PIK3CA mutation (n = 38) were at an increased risk of breast cancer-specific mortality (HR, 1.65; 95% CI, 0.83-3.26). In this large epidemiologic study, the PTEN-mortality association was more pronounced for ER-negative tumors, and the joint PTEN loss and PIK3CA mutation may be associated with worse prognosis. Further studies with a larger sample of ER-negative tumors are needed to replicate our findings and elucidate underlying mechanisms.

Sections du résumé

BACKGROUND
The relationships between PTEN loss and/or PIK3CA mutation and breast cancer prognosis remain controversial. We aim to examine the associations in large epidemiologic cohorts.
METHODS
We followed women with invasive breast cancer from the Nurses' Health Studies with available data on tumor PTEN expression (n = 4,111) and PIK3CA mutation (n = 2,930). PTEN expression was evaluated by IHC and digitally scored (0%-100%). Pyrosequencing of six hotspot mutations of PIK3CA was performed.
RESULTS
We found loss of PTEN expression (≤10%) occurred in 17% of cases, and PIK3CA mutations were detected in 11% of cases. After adjusting for clinical and lifestyle factors, PTEN loss was not associated with worse breast cancer-specific mortality among all samples [HR, 0.85; 95% confidence intervals (CI), 0.71-1.03] or among estrogen receptor (ER)-positive tumors (HR, 0.99; 95% CI, 0.79-1.24). However, among ER-negative tumors, PTEN loss was associated with lower breast cancer-specific mortality (HR, 0.68; 95% CI, 0.48-0.95). PIK3CA mutation was not strongly associated with breast cancer-specific mortality (HR, 0.89; 95% CI, 0.67-1.17). Compared with tumors without PTEN loss and without PIK3CA mutation, those with alterations (n = 540) were not at higher risk (HR, 1.07; 95% CI, 0.86-1.34). However, women with both PTEN loss and PIK3CA mutation (n = 38) were at an increased risk of breast cancer-specific mortality (HR, 1.65; 95% CI, 0.83-3.26).
CONCLUSIONS
In this large epidemiologic study, the PTEN-mortality association was more pronounced for ER-negative tumors, and the joint PTEN loss and PIK3CA mutation may be associated with worse prognosis.
IMPACT
Further studies with a larger sample of ER-negative tumors are needed to replicate our findings and elucidate underlying mechanisms.

Identifiants

pubmed: 35914729
pii: 707366
doi: 10.1158/1055-9965.EPI-22-0672
pmc: PMC9532372
mid: NIHMS1828974
doi:

Substances chimiques

Receptors, Estrogen 0
Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137
PIK3CA protein, human EC 2.7.1.137
PTEN Phosphohydrolase EC 3.1.3.67
PTEN protein, human EC 3.1.3.67

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1926-1934

Subventions

Organisme : NCI NIH HHS
ID : R01 CA050385
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA087969
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA207369
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA176726
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA186107
Pays : United States
Organisme : NCI NIH HHS
ID : T32 CA009001
Pays : United States

Informations de copyright

©2022 American Association for Cancer Research.

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Auteurs

Tengteng Wang (T)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Yujing J Heng (YJ)

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Gabrielle M Baker (GM)

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Vanessa C Bret-Mounet (VC)

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Liza M Quintana (LM)

Department of Pathology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Lisa Frueh (L)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.

Susan E Hankinson (SE)

Department of Biostatistics and Epidemiology, University of Massachusetts School of Public Health and Health Sciences, Amherst, Massachusetts.

Michelle D Holmes (MD)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Wendy Y Chen (WY)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.

Walter C Willett (WC)

Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Department of Nutrition, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Bernard Rosner (B)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

Rulla M Tamimi (RM)

Department of Population Health Sciences, Weill Cornell Medicine, New York, New York.

A Heather Eliassen (AH)

Channing Division of Network Medicine, Department of Medicine, Brigham & Women's Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
Department of Nutrition, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

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