[HTML][HTML] Germline TP53 pathogenic variants and breast cancer: A narrative review

E Blondeaux, L Arecco, K Punie, R Graffeo… - Cancer treatment …, 2023 - Elsevier
Approximately 10% of breast cancers are associated with the inheritance of a pathogenic
variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer …

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline☆

C Sessa, J Balmaña, SL Bober… - Annals of …, 2023 - annalsofoncology.org
Hereditary breast and ovarian cancer syndrome (HBOC) is clinically defined by family
history criteria, and molecularly defined by identification of germline pathogenic variants …

Reproductive issues in carriers of germline pathogenic variants in the BRCA1/2 genes: an expert meeting

B Buonomo, C Massarotti, M Dellino, P Anserini… - BMC medicine, 2021 - Springer
Background Healthy individuals and patients with cancer who are carriers of germline
pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that …

[HTML][HTML] Fertility preservation in young women with breast cancer: a review

YH Hong, C Park, H Paik, KH Lee, JR Lee… - Journal of breast …, 2023 - ncbi.nlm.nih.gov
Fertility preservation is a major concern in young patients diagnosed with breast cancer and
planning to receive multimodality treatment, including gonadotoxic chemotherapy with or …

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics …

H Hanson, E Astiazaran-Symonds, LM Amendola… - Genetics in …, 2023 - Elsevier
Purpose Although the role of CHEK2 germline pathogenic variants in cancer predisposition
is well known, resources for managing CHEK2 heterozygotes in clinical practice are limited …

Long-term outcomes with pharmacological ovarian suppression during chemotherapy in premenopausal early breast cancer patients

M Lambertini, L Boni, A Michelotti… - JNCI: Journal of the …, 2022 - academic.oup.com
Background Although use of gonadotropin-releasing hormone agonist (GnRHa) during
chemotherapy is an established strategy to protect ovarian function in premenopausal …

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions

P Xie, X Hu, L Kong, Y Mao, D Cheng… - Human …, 2022 - academic.oup.com
STUDY QUESTION Is there an efficient and cost-effective detection platform for different
genetic conditions about embryos? SUMMARY ANSWER A multifunctional haplotyping …

Fertility counseling in women with hereditary cancer syndromes

E Somigliana, MP Costantini, F Filippi… - Critical Reviews in …, 2022 - Elsevier
Hereditary cancer syndromes are a heterogeneous group of genetic conditions that are
associated with an increased risk of developing cancer during lifespan. In affected women …

Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?

L Laot, C Sonigo, J Nobre, A Benachi, T Dervin… - Cancers, 2022 - mdpi.com
Simple Summary Preimplantation genetic testing (PGT) has been developed to avoid the
transmission of a critical hereditary disease, by selecting embryos for uterine transfer using a …

[HTML][HTML] Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast …

M Condorelli, M Bruzzone, M Ceppi, A Ferrari… - ESMO open, 2021 - Elsevier
Background Knowledge is growing on the safety of assisted reproductive techniques (ART)
in cancer survivors. No data exist, however, for the specific population of breast cancer …