Severe reaction to radiotherapy provoked by hypomorphic germline mutations in <i>ATM</i> (ataxia–telangiectasia mutated gene)

Asadollahi, Reza; Britschgi, Christian; Joset, Pascal; Oneda, Beatrice; Schindler, Detlev; Meier, Urs R.; Rauch, Anita

doi:10.1002/mgg3.1409

Cited by 8 publications

(7 citation statements)

References 67 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The exact cause of telangiectasia remains unknown; however, researchers propose that the development of these manifestations includes weakening of the blood vessel structure and function, stemming from genetic, environmental, or an interplay of these influences [ 103 ]. It is widely accepted that there is a consensus in acknowledging AT patients exhibit variability in the cutaneous manifestation of the disease [ 111 ]. The degree of telangiectasias can vary influenced by aforementioned factors; patients may present with extensive telangiectasias, while others may not manifest them at all [ 112 ].…”

Section: Ataxia–telangiectasiamentioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

View full text Add to dashboard Cite

Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder’s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.

show abstract

Section: Ataxia–telangiectasiamentioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

View full text Add to dashboard Cite

show abstract

“…On the contrary, women who carry rare ATM missense variants classified as likely deleterious, are at increased risk for CBC in a dose-dependent manner compared with ATM PV who did not receive RT [ 3 , 37 ]. Case reports of radiation toxicity in heterozygous ATM PV carriers are described, otherwise, the correlation is not clear [ 39 ].…”

Section: Atmmentioning

confidence: 99%

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D

et al. 2022

View full text Add to dashboard Cite

“…• Test results and impact on cancer risk in the context of family and medical history • Review of new clinical management options, if applicable • How to inform family members of the results, including resources for any at risk family members • How to get at-risk family members referred to specialists in their area for counseling and testing, as appropriate [6], [94], [95], [96] • Local and national support groups and resources • For women of reproductive age with a positive result, discuss options for prenatal diagnosis, including pre-implantation genetic diagnosis or assisted reproduction options • As appropriate, discuss the non-cancer-related diseases and risks that might have been identified and refer to a genetic counselor or other appropriate expert for management…”

Section: Posttest Genetic Counselingmentioning

confidence: 99%

Breast Health

Frankland

Brown

2021

Each Woman’s Menopause: An Evidence Based Resource

View full text Add to dashboard Cite

Breast cancer is the most common non-cutaneous, malignant disease among women worldwide, accounting for 24% of new cancer cases in 2018. Approximately 645,000 premenopausal and 1.4 million postmenopausal breast cancer cases were diagnosed worldwide in 2018 [1]. Globally, breast cancer cases will increase to over 2 million new cases/year by 2030 [2]. Nearly half of this burden is observed in highresource countries, many of which have established screening programs. There is a 11-13% chance a woman will be diagnosed with breast cancer in her lifetime. Breast cancer is a heterogenous disease with many associated risk factors, including environment, reproductive history, genetics, and trends in western-based lifestyle. Breast cancer originates in the ducts (85%), lobules (15%), or the epithelium. When the cancer is limited to the duct or lobule, it is classified as in situ disease. Once it invades the surrounding tissues, it is referred to as invasive disease.

show abstract

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 8 publications

References 67 publications

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D

Breast Health

Contact Info

Product

Resources

About