Miniatura

Fitxers

djac188.pdf (958.62 KB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2022-09-28

Llicència de publicació

cc by-nc (c) Hendricks, Linda A. J. et al, 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/201721

Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1093/jnci/djac188

Resum

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods: This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results: A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately two-fold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions: Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Matèries

Factors sexuals en les malalties, Càncer

Matèries (anglès)

Sex factors in disease, Cancer

Citació

Col·leccions

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

HENDRICKS, Linda a. j., HOOGERBRUGGE, Nicoline, MENSENKAMP, Arjen r., BRUNET, Joan, LLEUGER PUJOL, Roser, HØBERG-VETTI, Hildegunn, TVEIT HAAVIND, Marianne, INNELLA, Giovanni, TURCHETTI, Daniela, ARETZ, Stefan, SPIER, Isabel, TISCHKOWITZ, Marc, JAHN, Arne, LINKS, Thera p., OLDERODE-BERENDS, Maran j. w., BLATNIK, Ana, LETER, Edward m., EVANS, D. gareth, WOODWARD, Emma r., STEINKE-LANGE, Verena, ANASTASIADOU, Violetta c., COLAS, Chrystelle, VILLY, Marie charlotte, BENUSIGLIO, Patrick r., GERASIMENKO, Anna, BARILI, Valeria, BRANCHAUD, Maud, HOUDAYER, Claude, TESI, Bianca, YAZICIOGLU, M. omer, POST, Rachel s. van der, SCHUURS HOEIJMAKERS, Janneke h.m., HEST, Liselotte p. van, ADANK, Muriel a., DUIJKERS, Floor, NIELSEN, Maartje, VERBEEK, Katja c. j., IERLAND, Yvette van, GILTAY, Jacques c., VOS, Janet r., PTEN Study Group. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. _JNCI: Journal of the National Cancer Institute_. 2022. Vol. 115, núm. 1, pàgs. 93-103. [consulta: 7 de febrer de 2026]. ISSN: 1460-2105. [Disponible a: https://hdl.handle.net/2445/201721]

Exportar metadades

JSON - METS

Compartir registre