Cancers, Vol. 12, Pages 1289: Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer:
Cancers, Vol. 12, Pages 1289: Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer
Cancers doi: 10.3390/cancers12051289
Authors:
Maisa Pinheiro
Fernanda Cristina Sulla Lupinacci
Karina Miranda Santiago
Sandra Aparecida Drigo
Fabio Albuquerque Marchi
Carlos Eduardo Fonseca-Alves
Sonia Cristina da Silva Andrade
Mads Malik Aagaard
Tatiane Ramos Basso
Mariana Bisarro dos Reis
Rolando André Rios Villacis
Martin Roffé
Glaucia Noeli Maroso Hajj
Igor Jurisica
Luiz Paulo Kowalski
Maria Isabel Achatz
Silvia Regina Rogatto
Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnosed, and the lifetime risk for these cancers is increased in patients with a positive family history of both TC and BC. Although this phenotype is partially explained by TP53 or PTEN mutations, a significant number of patients are negative for these alterations. We judiciously recruited patients diagnosed with BC and/or TC having a family history of these tumors and assessed their whole-exome sequencing. After variant prioritization, we selected MUS81 c.1292G>A (p.R431H) for further investigation. This variant was genotyped in a healthy population and sporadic BC/TC tissues and investigated at the protein level and cellular models. MUS81 c.1292G>A was the most frequent variant (25%) and the strongest candidate due to its function of double-strand break repair. This variant was confirmed in four relatives from two families. MUS81 p.R431H protein exhibited lower expression levels in tumors from patients positive for the germline variant, compared with wild-type BC, and normal breast and thyroid tissues. Using cell line models, we showed that c.1292G>A induced protein instability and affected DNA damage response. We suggest that MUS81 is a novel candidate involved in familial BC/TC based on its low frequency in healthy individuals and proven effect in protein stability.
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
Πληροφορίες
Ετικέτες
Τετάρτη 20 Μαΐου 2020
Cancers, Vol. 12, Pages 1289: Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer
Αναρτήθηκε από
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
στις
11:56 μ.μ.
Ετικέτες
00302841026182,
00306932607174,
alsfakia@gmail.com,
Anapafseos 5 Agios Nikolaos 72100 Crete Greece,
Medicine by Alexandros G. Sfakianakis,
Telephone consultation 11855 int 1193
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Αρχειοθήκη ιστολογίου
-
►
2023
(276)
- ► Φεβρουαρίου (133)
- ► Ιανουαρίου (143)
-
►
2022
(1976)
- ► Δεκεμβρίου (116)
- ► Σεπτεμβρίου (158)
- ► Φεβρουαρίου (165)
- ► Ιανουαρίου (161)
-
►
2021
(3661)
- ► Δεκεμβρίου (161)
- ► Σεπτεμβρίου (274)
- ► Φεβρουαρίου (64)
- ► Ιανουαρίου (368)
-
▼
2020
(4554)
- ► Δεκεμβρίου (400)
- ► Σεπτεμβρίου (381)
-
▼
Μαΐου
(271)
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis,Anapafseos 5...
- Ephemeris Medicine by Alexandros G. Sfakianakis,An...
- Ephemeris Medicine by Alexandros G. Sfakianakis,An...
- Ephemeris Medicine by Alexandros G. Sfakianakis
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis,
- An apparent new syndrome of extreme short stature,...
- Exome sequencing identifies new somatic alteration...
- Nitric oxide inhalation as an interventional rescu...
- In healthy subjects, green kiwifruit increases sto...
- SAGE Publications Ltd: Antiviral Chemistry an...
- Staphylococcus aureus Prostatic Abscess in the Set...
- Late-onset postsurgical hypoparathyroidism followi...
- Malignant transformation of oral leukoplakia: a fo...
- Effect of orally administered magnesium on postope...
- Dietary fatty acids and the time elapsed from thei...
- tooth loss is independently associated with caroti...
- Inhibition of neutrophil inflammatory mediator exp...
- SAGE Publications Ltd: Journal of Internation...
- Pursuing symmetry in reconstruction of the upper l...
- Histopathology of fluoroscopy‐induced radiation ul...
- Re‐Induktion einer Checkpoint‐Inhibitor‐Therapie b...
- Ligamentum arteriosum calcification that presented...
- Management of a metal foreign body entering the th...
- A comparative study of low-level laser effica...
- Can we safely reduce the radiation dose to the hea...
- Diagnostic Performance of Four Ultrasound Risk Str...
- Risk Stratification Using a Novel Genetic Classifi...
- Autoimmune Thyroiditis Induced by Immunization wit...
- In medicine, Valentino's syndrome is pain presenti...
- Evaluation of the effects of photobiomodulation th...
- Mechanical transnasal endoscopic dacryocystorhinos...
- Sialodochitis fibrinosa: salivary duct obstruction...
- Journal of Craniofacial Surgery - Published A...
- Survival outcomes after surgical treatment of oral...
- Comparison of the Efficiacy of Intra-Articular Inj...
- SECg Staging System: A New Approach to the Managem...
- Foods, V
- Hesperidin on Cardiovascular Disease Risk Factors:...
- Nutrients, Vol. 12, Pages 1482: Tart Cherry Increa...
- Social Sciences, Vol. 9, Pages 86: Elsa as Horse W...
- Nutr
- Medici
- Porphyromonas gingivalis, Tannerella forsythia, Tr...
- Medicina, Vol. 56, Pages 248: Pleomorphic Adenoma ...
- International Journal of Molecular Sciences,
- International Journal of Environmental Resear...
- IJMS, Vol. 21, Pages 3613: Role and Mechanisms of ...
- Cel
- Healthcare, Vol. 8, Pages 139: Automatic Detection...
- Diseases, Vol. 8, Pages 15: Plasmodium falciparum ...
- Cancers, Vol. 12, Pages 1289: Germline Mutation in...
- Cancers, Vol. 12, Pages 1291: Venous Thromboemboli...
- Biomolecules, Vol. 10, Pages 789: MARK4 Inhibited ...
- ICI, CTLA-4, PD-1 and PD-L1, have shown significan...
- Antibiot
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis,
- Medicine by Alexandros G. Sfakianakis
- Smart Cities, Vol. 3, Pages 362-384: An Inves...
- Scientia Pharmaceutica,
- Religions, Vol. 11, Pages 235: When Piety Is ...
- Sci, Vol. 2, Pages 31: Antioxidant Properties of W...
- Robotics, Vol. 9, Pages 32: A Survey on Mechanical...
- Risks, Vol. 8, Pages 45: Towards an Economic Cyber...
- Recycling, Vol. 5, Pages 10: Facility Location Pro...
- Plants,
- Proteomes, Vol. 8, Pages 9: Urinary Extracellular ...
- Pharmacy, Vol. 8, Pages 82: Pharmacists and C...
- Pharm
- Pharmac
- Pathogen
- Nutr
- Nanoma
- Mo
- Molb
- Microorganisms, Vol. 8, Pages 702: Bacillus t...
- Methods and Protocols,
- Membrane
- Metabolites, Vol. 10, Pages 187: Metabolite Change...
- Medicina, Vol. 56, Pages 228: Acute Effects o...
- Journal of Clinical Medicine,
- Medicines, Vol. 7, Pages 26: Plant Polyphenols, Mo...
- Life, Vol. 10, Pages 57: Targeting the C-Terminal ...
- JPM, Vol. 10, Pages 37: Future Trends in Nebulized...
- JFMK, Vol. 5, Pages 32: 25-Hydroxyvitamin D, Vitam...
- International Journal of Neonatal Screening,
- International Journal of Molecular Sciences,
- International Journal of Environmental Researc...
- Healthcare, Vol. 8, Pages 131: Nurses’ Experi...
- Foods, Vol. 9, Pages 611: Effects of Shiitake...
- Diversity, Vol. 12, Pages 185: Drivers of Fol...
- Diseases, Vol. 8, Pages 13: Inflammatory Bowe...
- Diagno
- Dentistry Journal, Vol. 8, Pages 48: A New Te...
- ► Φεβρουαρίου (638)
- ► Ιανουαρίου (691)
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου