Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
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BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
Abstract
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
참고문헌 (20)
- Sung H, "Global cancer statistics 2020 : GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries", CA Cancer J Clin, 71, pp.209~249 (2021)
- PDQ Cancer Genetics Editorial Board, "Genetics of colorectal cancer (PDQ): health professional version" (2002), National Cancer Institute
- Yoshida K, "Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage", Cancer Sci, 95, pp.866~871 (2004)
- Phelan CM, "Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers : results from a follow-up study", Br J Cancer, 110, pp.530~534 (2014)
- Suchy J, "BRCA1 mutations and colorectal cancer in Poland", Fam Cancer, 9, pp.541~544 (2010)
- Oh M, "BRCA1 and BRCA2 gene mutations and colorectal cancer risk : systematic review and meta-analysis", J Natl Cancer Inst, 110, pp.1178~1189 (2018)
- Niell BL, "BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer", J Natl Cancer Inst, 96, pp.15~21 (2004)
- Mace AG, "American Joint Committee on Cancer and College of American Pathologists regression grade : a new prognostic factor in rectal cancer", Dis Colon Rectum, 58, pp.32~44 (2015)
- Antoniou A, "Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history : a combined analysis of 22 studies", Am J Hum Genet, 72, pp.1117~1130 (2003)
- Thompson D, "Cancer Incidence in BRCA1 mutation carriers", J Natl Cancer Inst, 94, pp.1358~1365 (2002)
- Cancer Genome Atlas Network, "Comprehensive molecular characterization of human colon and rectal cancer", Nature, 487, pp.330~337 (2012)
- Feng Z, "BRCA genes as candidates for colorectal cancer genetic testing panel : systematic review and meta-analysis", BMC Cancer, 23, pp.807~ (2023)
- Kadouri L, "Cancer risks in carriers of the BRCA1", 2 Ashkenazi founder mutations, 2007, pp.44, 467~471
- Mohamad HB, "Counseling for male BRCA mutation carriers : a review", Breast, 17, pp.441~450 (2008)
- Soyano AE, "BRCA mutation and its association with colorectal cancer", Clin Colorectal Cancer, 17, pp.e647~e650 (2018)
- Crocetto F, "BRCA germline mutations in prostate cancer : the future is tailored", Diagnostics (Basel), 11, pp.908~ (2021)
- Nicolosi P, "Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines", JAMA Oncol, 5, pp.523~528 (2019)
- Daly MB, "Genetic", familial high-risk assessment : breast, ovarian, and pancreatic, version 2. 2021, NCCN Clinical Practice Guidelines in Oncology, 2021, pp.19, 77~102
- Stoffel EM, "Hereditary colorectal cancer syndromes : American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer : European Society for Medical Oncology Clinical Practice Guidelines", J Clin Oncol, 33, pp.209~217 (2015)
- Mylavarapu S, "Role of BRCA mutations in the modulation of response to platinum therapy", Front Oncol, 8, pp.16~ (2018)