Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

Abstract Introduction Magseed is a novel localization technology in which a tiny seed is inserted to accurately mark the site of breast tumour. These can be detected intra-operatively by sentimag localization system. It aids localization of impalpable breast lesions improving margin clearance rates. Method A prospective study of first fifty Magseed localised breast tumour and axillary node excisions in Clatterbridge General Hospital. Results A total of 50 patients had 52 Magseed inserted. n = 14 was symptomatic, n = 35 was screen detected and n = 1 was an incidental finding on surveillance mammogram for a B3 lesion. 30 seeds were inserted on the right and 22 were inserted on the left (two were bilateral). 44 seeds were inserted under ultrasound guidance and the rest were targeted under stereo guidance (n = 8). Deployment of two resulted in malposition requiring wire localization. Mean age of subjects was 59.76 (range 31-81) years. Mean time to surgery after magseed insertion was 8.04 (range 1-27) days. Mean weight of the specimen was 48.57(range 10-264) gm. Mean size of the lesions was 20.32 (range 8-65) mm. Redo surgery for margin clearance was performed bringing the re-excision rate to 15.38% (n = 8). Conclusions We conclude that Magseed localization of breast tumours is a safe and reliable technique

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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1692 ◽

2021 ◽

Author(s):

Beattie R. H. Sturrock ◽

Ellen F. Macnamara ◽

Peter McGuire ◽

Shannon Kruk ◽

Ivan Yang ◽

...

Keyword(s):

Cerebellar Atrophy ◽

Complex Ii ◽

Deleterious Variant

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The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

Nature ◽

10.1038/nature10983 ◽

2012 ◽

Vol 486 (7403) ◽

pp. 346-352 ◽

Cited By ~ 2789

Author(s):

Christina Curtis ◽

◽

Sohrab P. Shah ◽

Suet-Feung Chin ◽

Gulisa Turashvili ◽

...

Keyword(s):

Breast Tumours

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Identification of potentially misleading terminology in the fifth edition WHO Classification of Tumours digestive and breast tumours blue books

Pathology ◽

10.1016/j.pathol.2021.05.080 ◽

2021 ◽

Vol 53 ◽

pp. S57

Author(s):

Z.-L. Chow ◽

V.A. White ◽

B.I. Indave ◽

D. Lokuhetty ◽

I.A. Cree

Keyword(s):

Who Classification ◽

Breast Tumours

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The molecular landscape of Asian breast cancers reveals clinically relevant population-specific differences

Nature Communications ◽

10.1038/s41467-020-20173-5 ◽

2020 ◽

Vol 11 (1) ◽

Author(s):

Jia-Wern Pan ◽

Muhammad Mamduh Ahmad Zabidi ◽

Pei-Sze Ng ◽

Mei-Yee Meng ◽

Siti Norhidayu Hasan ◽

...

Keyword(s):

Breast Cancer ◽

Somatic Mutations ◽

Checkpoint Inhibitors ◽

Breast Cancers ◽

Breast Cancer Patients ◽

Breast Tumours ◽

Different Populations ◽

Caucasian Women ◽

Molecular Landscape ◽

Immune Score

AbstractMolecular profiling of breast cancer has enabled the development of more robust molecular prognostic signatures and therapeutic options for breast cancer patients. However, non-Caucasian populations remain understudied. Here, we present the mutational, transcriptional, and copy number profiles of 560 Malaysian breast tumours and a comparative analysis of breast cancers arising in Asian and Caucasian women. Compared to breast tumours in Caucasian women, we show an increased prevalence of HER2-enriched molecular subtypes and higher prevalence of TP53 somatic mutations in ER+ Asian breast tumours. We also observe elevated immune scores in Asian breast tumours, suggesting potential clinical response to immune checkpoint inhibitors. Whilst HER2-subtype and enriched immune score are associated with improved survival, presence of TP53 somatic mutations is associated with poorer survival in ER+ tumours. Taken together, these population differences unveil opportunities to improve the understanding of this disease and lay the foundation for precision medicine in different populations.

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