A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

Perera, Sheron; Ramyar, Lily; Mitri, Angela; Pollett, Aaron; Gallinger, Steven; Speevak, Marsha D.; Aronson, Melyssa; Bapat, Bharati

doi:10.1038/jhg.2009.119

Cited by 7 publications

(7 citation statements)

References 20 publications

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“…This condition is caused by an inherited germ-line mutation in one allele of MMR genes msh2 and mlh1 , leading to MMR deficiency. This condition causes MSI which in turn leads to DNA mutations [51–53]. …”

Section: Pathologies Related To Mmr System Failure In Humansmentioning

confidence: 99%

“…Lynch syndrome, also called non-polyposis colorectal cancer and the most common form of inherited colorectal cancer, is a good example of a malignant disease associated to MSI. It develops in 60% of the patients with MMR gene mutations, commonly before 50 years of age [51, 55]. Muir-Torre, as well as Lynch syndrome, is a condition caused by decreased DNA-MMR activity.…”

Section: Pathologies Related To Mmr System Failure In Humansmentioning

confidence: 99%

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DNA Mismatch Repair System: Repercussions in Cellular Homeostasis and Relationship with Aging

Conde-Pérezprina

León-Galván

Königsberg

2012

Oxidative Medicine and Cellular Longevity

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The mechanisms that concern DNA repair have been studied in the last years due to their consequences in cellular homeostasis. The diverse and damaging stimuli that affect DNA integrity, such as changes in the genetic sequence and modifications in gene expression, can disrupt the steady state of the cell and have serious repercussions to pathways that regulate apoptosis, senescence, and cancer. These altered pathways not only modify cellular and organism longevity, but quality of life (“health-span”). The DNA mismatch repair system (MMR) is highly conserved between species; its role is paramount in the preservation of DNA integrity, placing it as a necessary focal point in the study of pathways that prolong lifespan, aging, and disease. Here, we review different insights concerning the malfunction or absence of the DNA-MMR and its impact on cellular homeostasis. In particular, we will focus on DNA-MMR mechanisms regulated by known repair proteins MSH2, MSH6, PMS2, and MHL1, among others.

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Section: Pathologies Related To Mmr System Failure In Humansmentioning

confidence: 99%

Section: Pathologies Related To Mmr System Failure In Humansmentioning

confidence: 99%

DNA Mismatch Repair System: Repercussions in Cellular Homeostasis and Relationship with Aging

Conde-Pérezprina

León-Galván

Königsberg

2012

Oxidative Medicine and Cellular Longevity

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“…These mutations ultimately lead to microsatellite instability and a predisposition for developing various malignancies [2,9]. Less commonly, around 35% of tumors arise in an autosomal recessive form as a result of a biallelic defect of the MYH gene which encodes base excision repair [10].…”

Section: Discussionmentioning

confidence: 99%

A rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp

Shanks

Laun

Holstein

et al. 2020

Case Reports in Plastic Surgery and Hand Surgery

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“…As MMR deficiency is not detected in 35% of LS/MTS cases, this entity has been divided into at least two types. The first and most common type of LS/MTS is a variant of hereditary non‐polyposis colorectal cancer that is characterized by defects in MMR genes and early‐onset tumours; the other types do not show deficiency in MMR and are related to a biallelic inactivation of MUTYH as an autosomal recessive inheritance pattern or other inherited DNA repair defects …”

Section: Sebaceous Tumours Associated With Lynch Syndrome or Hereditamentioning

confidence: 98%

Update on the pathology, genetics and somatic landscape of sebaceous tumours

et al. 2020

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Cutaneous sebaceous neoplasms show a predilection for the head and neck area of adults and include tumours with benign behaviour, sebaceous adenoma and sebaceoma, and sebaceous carcinoma with potential for an aggressive disease course at the malignant end of the spectrum. The majority of tumours are solitary and sporadic, but a subset of tumours may be associated with Lynch syndrome, also known as hereditary non‐polyposis colon cancer (HNPCC) and previously referred to as Muir‐Torre syndrome (now known to be part of Lynch syndrome). This review provides an overview of the clinical and histological features of cutaneous sebaceous neoplasia with an emphasis on differentiating features and differential diagnosis. It also offers insights into the recently described molecular pathways involved in the development of sebaceous tumours and their association with Lynch syndrome.

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A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome

Cited by 7 publications

References 20 publications

DNA Mismatch Repair System: Repercussions in Cellular Homeostasis and Relationship with Aging

DNA Mismatch Repair System: Repercussions in Cellular Homeostasis and Relationship with Aging

A rare concurrence of Muir-Torre-associated sebaceous carcinoma in the setting of a lipedematous scalp

Update on the pathology, genetics and somatic landscape of sebaceous tumours

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