Predisposition of papillary thyroid carcinoma in a family dignosed as hereditary breast and ovarian cancer syndrome
Öz
Abstract
Hereditary breast and ovarian cancer syndrome is characterized by the familial type of breast and/or ovarian cancers diagnosed at early onset. In these families, predisposition to prostate and pancreas cancers can be seen. Here a family who had hereditary breast and ovarian cancer syndrome was presented and we also discussed the possible mechanisms in the predisposition of papillar type thyroid cancer which is common in this family. No BRCA 1 and BRCA 2 mutation had been observed in certain loci in this family. Due to the literature findings, our family is the sole example which has clinically hereditary breast and ovarian cancer syndrome diagnosis with thyroid papillary carcinoma predisposition.Here, there may be a common mechanism affected in these different tumors. So, further studies are necessary to find out affected pathways in patients having hereditary type breast and ovarian cancer who has also predispositionto papillary thyroid carcinoma.
Keywords: Hereditary breast and ovarian cancer syndrome, papillary thyroid carcinoma, BRCA 1, BRCA 2, hereditary cancers
Özet
Herediter meme over kanser sendromu, erken dönemde tanı alan ailesel tip meme ve/veya over kanseri ile karakterizedir. Ailelerde prostat ve pankreas kanserine yatkınlık görülebilir. Yazımızda herediter meme- over kanser sendromu tanısı almış bir aile sunulmakta vebu ailede sık gözlenen papiller tip tiroid kanserini oluşturabilecek nedenler tartışılmaktadır. Ailede BRCA 1 ve BRCA 2 genlerinin belli bölgelerinde mutasyon gösterilmemiştir. Ancak klinik olarak meme over kanser sendromu tanısı alan aile literatüre göre papiller tiroid kanserine yatkınlıkla tanımlanan tek örnektir. Burada tanımlanan farklı tümör tiplerinde etkilenen ortak bir mekanizma olduğu düşünülebilir. Sonuç olarak, papiller tiroid kansere yatkınlığı olan herediter meme- over kanser sendromu tanısı almış nadir ailelerde etkilenen yolakları bulmak için daha fazla araştırmaya gerek vardır.
Anahtar sözcükler: Herediter meme ve over kanseri sendromu, papiller tiroid kanseri, BRCA 1, BRCA 2, herediter kanserler
Anahtar Kelimeler
Kaynakça
- Shulman LP. Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol Clin North Am 2010; 37: 109-33.
- Martin SA, Hewish M, Lord CJ, Ashworth A. Genomic instability and the selection of treatments for cancer. J Pathol 2010; 220: 281-9.
- Hemminki K, Eng C, Chen B. Familial risks for nonmedullary thyroid cancer. J Clin Endocrinol Metab 2005; 90: 5747-53.
- Güran S, Safali M. A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer. Cancer Genet Cytogenet 2005; 156: 86-8.
- Güran S, Ozet A, Dede M, Gille JJ, Yenen MC. Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. Cancer Genet Cytogenet 2005; 160: 164-8.
- Saxena R, Kohli S, Guleria K, Verma IC. Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome. Hum Genet 2010; 127: 480.
- Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, Godwin AK. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol 2009; 3: 97-137.
- Goldberg JI, Borgen PI. Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 2006; 6: 1205-14.
- Bahçe M. Genetics in ovarian tumors. Turkiye Klinikleri J Surg Med Sci 2007; 3: 5-9.
- Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009; 46: 793-802.
- Landi S. Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. Mutat Res 2009; 681: 299-307.
- Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR. A census of human cancer genes. Nat Rev Cancer 2004; 4: 177-83.
- Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 2010; 120: 777-82.
- Yağcı G, Dede M, Guran S, Yenen MC, Durukan AH, Safali M. A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding. Int J Colorectal Dis 2007; 22: 725-6.
- Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004; 23: 6445-70.
- Oğur G: Genes, chromosomes and cancer. Turkiye Klinikleri J Pediatr Sci 2005; 1: 73-92.
Öz
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Anahtar Kelimeler
Kaynakça
- Shulman LP. Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol Clin North Am 2010; 37: 109-33.
- Martin SA, Hewish M, Lord CJ, Ashworth A. Genomic instability and the selection of treatments for cancer. J Pathol 2010; 220: 281-9.
- Hemminki K, Eng C, Chen B. Familial risks for nonmedullary thyroid cancer. J Clin Endocrinol Metab 2005; 90: 5747-53.
- Güran S, Safali M. A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer. Cancer Genet Cytogenet 2005; 156: 86-8.
- Güran S, Ozet A, Dede M, Gille JJ, Yenen MC. Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. Cancer Genet Cytogenet 2005; 160: 164-8.
- Saxena R, Kohli S, Guleria K, Verma IC. Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome. Hum Genet 2010; 127: 480.
- Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, Godwin AK. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol 2009; 3: 97-137.
- Goldberg JI, Borgen PI. Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 2006; 6: 1205-14.
- Bahçe M. Genetics in ovarian tumors. Turkiye Klinikleri J Surg Med Sci 2007; 3: 5-9.
- Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009; 46: 793-802.
- Landi S. Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. Mutat Res 2009; 681: 299-307.
- Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR. A census of human cancer genes. Nat Rev Cancer 2004; 4: 177-83.
- Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 2010; 120: 777-82.
- Yağcı G, Dede M, Guran S, Yenen MC, Durukan AH, Safali M. A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding. Int J Colorectal Dis 2007; 22: 725-6.
- Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004; 23: 6445-70.
- Oğur G: Genes, chromosomes and cancer. Turkiye Klinikleri J Pediatr Sci 2005; 1: 73-92.
Öz
ÖZET
Herediter meme over kanser sendromu, erken dönemde tanı alan ailesel tip meme ve/ veya over kanseri ile karakterizedir. Ailelerde prostat ve pankreas kanserine yatkınlık görülebilir. Yazımızda herediter meme- over kanser sendromu tanısı almış bir aile sunulmakta olup, bu ailede sık gözlenen tiroid kanserini ( papiller tip ) oluşturabilecek nedenler tartışılmaktadır. Ailede BRCA 1 ve BRCA 2 genlerinin belli bölgelerinde mutasyon gösterilmemiştir. Ancak klinik olarak meme over kanser sendromu tanısı alan aile literatüre göre papiller tiroid kanserine yatkınlıkla tanımlanan tek örnektir. Burada tanımlanan farklı tümör tiplerinde etkilenen ortak bir mekanizma olduğu düşünülebilir. Sonuç olarak, papiller tiroid kansere yatkınlığı olan herediter meme- over kanser sendromu tanısı almış nadir ailelerde etkilenen yolakları bulmak için daha fazla araştırmaya gerek vardır.
Anahtar Kelimeler
Herediter meme ve over kanseri sendromu papiller tiroid kanseri BRCA 1 BRCA 2 herediter kanserler
Kaynakça
- Shulman LP. Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol Clin North Am 2010; 37: 109-33.
- Martin SA, Hewish M, Lord CJ, Ashworth A. Genomic instability and the selection of treatments for cancer. J Pathol 2010; 220: 281-9.
- Hemminki K, Eng C, Chen B. Familial risks for nonmedullary thyroid cancer. J Clin Endocrinol Metab 2005; 90: 5747-53.
- Güran S, Safali M. A case of neurofibromatosis and breast cancer: loss of heterozygosity of NF1 in breast cancer. Cancer Genet Cytogenet 2005; 156: 86-8.
- Güran S, Ozet A, Dede M, Gille JJ, Yenen MC. Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis. Cancer Genet Cytogenet 2005; 160: 164-8.
- Saxena R, Kohli S, Guleria K, Verma IC. Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome. Hum Genet 2010; 127: 480.
- Lynch HT, Casey MJ, Snyder CL, Bewtra C, Lynch JF, Butts M, Godwin AK. Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol 2009; 3: 97-137.
- Goldberg JI, Borgen PI. Breast cancer susceptibility testing: past, present and future. Expert Rev Anticancer Ther 2006; 6: 1205-14.
- Bahçe M. Genetics in ovarian tumors. Turkiye Klinikleri J Surg Med Sci 2007; 3: 5-9.
- Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet 2009; 46: 793-802.
- Landi S. Genetic predisposition and environmental risk factors to pancreatic cancer: A review of the literature. Mutat Res 2009; 681: 299-307.
- Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR. A census of human cancer genes. Nat Rev Cancer 2004; 4: 177-83.
- Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M. Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome. Breast Cancer Res Treat 2010; 120: 777-82.
- Yağcı G, Dede M, Guran S, Yenen MC, Durukan AH, Safali M. A papillary thyroid carcinoma case associated with hereditary colon carcinoma due to familial adenomatous polyposis with no hereditary mutation finding. Int J Colorectal Dis 2007; 22: 725-6.
- Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004; 23: 6445-70.
- Oğur G: Genes, chromosomes and cancer. Turkiye Klinikleri J Pediatr Sci 2005; 1: 73-92.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Olgu Sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 21 Aralık 2012 |
| Yayımlandığı Sayı | Yıl 2012Cilt: 34 Sayı: 3 |