BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non‐carriers: results from a rapid autopsy programme

Aim To catalogue and compare the pattern of metastatic disease in germline BRCA1/2 pathogenic mutation carriers and non‐carriers with breast, ovarian and prostate cancer from a rapid autopsy programme. Methods and results The number of metastases in the major body systems and the proportion of parti...

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Bibliographic Details
Published in:Histopathology 2023-07, Vol.83 (1), p.91-103
Main Authors: Thorne, Heather, Devereux, Lisa, Li, Jason, Alsop, Kathryn, Christie, Liz, Geelen, Courtney T, Burdett, Nikki, Pishas, Kathleen I, Woodford, Noel, Leditschke, Jodie, Izzath, Mohamed H M A, Strachan, Kate, Young, Gregory, Jaravaza, Rufaro D, Madadin, Mohammed S, Archer, Melanie, Glengarry, Joanna, Iles, Linda, Rathnaweera, Ajith, Hampson, Clare, Almazrooei, Khamis, Burke, Michael, Bandara, Pradeep, Ranson, David, Saeedi, Essa, McNally, Orla, Mileshkin, Linda, Hamilton, Anne, Ananda, Sumitra, Au‐Yeung, George, Antill, Yoland, Sandhu, Shahneen, Savas, Peter, Francis, Prudence A, Luen, Stephen, Loi, Sherene, Jennens, Ross, Scott, Clare, Moodie, Kate, Cummings, Margaret, Reid, Andrew, Reed, Amy McCart, Bowtell, David, Lakhani, Sunil R, Fox, Stephen
Format: Article
Language:English
Subjects:
anatomy
Autopsies
Autopsy
BRCA1 protein
BRCA2 protein
Breast cancer
dissection
genes
hereditary cancer syndrome
Metastases
Metastasis
Mutation
neoplasm
Ovarian cancer
Ovarian carcinoma
Ovaries
Prostate cancer
tumour suppressor
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Summary:Aim To catalogue and compare the pattern of metastatic disease in germline BRCA1/2 pathogenic mutation carriers and non‐carriers with breast, ovarian and prostate cancer from a rapid autopsy programme. Methods and results The number of metastases in the major body systems and the proportion of participants with metastases were documented in 50 participants (19 germline mutation carriers). Analysis was conducted on the participants’ pattern of disease for the different cancers and mutation subgroups. The four commonly affected organ systems were the digestive (liver only) (82%), respiratory (76%), gastrointestinal (65%) and reticuloendothelial (42%). There were significant differences in the pattern of metastatic breast cancer in BRCA1/2 germline carriers compared with non‐carriers. Breast cancer carriers had significantly fewer organ systems involved (median n = 3, range = 1–3) compared with non‐carriers (median n = 9, range = 1–7) (P = 0.03). BRCA1/2 carriers with ovarian carcinomas had significantly more organ systems with metastatic carcinoma (median n = 10, range = 3–8) than non‐carriers (median n = 5, range = 3–5) (P 
ISSN:0309-0167
1365-2559
DOI:10.1111/his.14906