The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania

Clinical Genetics

Volumn 78, Issue 4, 2010, Pages 373-376

  Elsakov, P ^a   Kurtinaitis, J ^a   Petraitis, S ^a   Ostapenko, V ^a   Razumas, M ^b   Razumas, T ^a   Meskauskas, R ^c   Petrulis, K ^a   Luksite, A ^a   Lubinski J ^d   Gorski B ^d   Narod, S A ^e   Gronwald, J ^d  

^a VILNIUS UNIVERSITY   (Lithuania)

^b Vilnius Maternity Hospital   (Lithuania)

^c National Center of Pathology   (Lithuania)

^d POMERANIAN MEDICAL UNIVERSITY   (Poland)

^e WOMEN S COLLEGE HOSPITAL   (Canada)

Author keywords

BRCA1 founder mutation; Breast cancer; Colorectal cancer; Frequency; Ovarian cancer; Unselected patients

Indexed keywords

BRCA1 PROTEIN;

ADULT; AGED; ARTICLE; BLOOD SAMPLING; BREAST CANCER; COLON CANCER; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LITHUANIA; MAJOR CLINICAL STUDY; MALE; NEWBORN; OVARY CANCER; PRIORITY JOURNAL;

AGE OF ONSET; BREAST NEOPLASMS; COLONIC NEOPLASMS; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; LITHUANIA; MUTATION; OVARIAN NEOPLASMS; POLYMERASE CHAIN REACTION; PREVALENCE;

EID: 77956418346     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01404.x     Document Type: Article

References (21)

1. Csokay B, Tihomirova L, Stengrevics A, Sinicka O, Olah E. Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. Online. Hum Mutat 1999, 14:92.
2. Tikhomirova L, Sinicka O, Smite D, Eglitis J, Hodfson SV, Stengrevics A. High prevalence of tow BRCA1 mutations, 4154delA and 5382insC, in Latvia. Fam Cancer 2005, 4:77-84.
3. Lubiński J, Górski B, Huzarski T. BRCA1-positive breast cancers in young women from Poland. Breast Cancer Res Treat 2006, 99:71-76.
4. Gorski B, Jakubowska A, Huzarski T. A high proportion of founder BRCA1 mutations in Polish breast and ovarian cancer families. Int J Cancer 2004, 110:683-686.
5. Gronwald J, Elsakov P, Gorski B, Lubinski J. High incidence of 4153 delA BRCA1 gene mutation in Lithuanian breast- and breast-ovarian cancer families. Breast Cancer Res Treat 2005, 94:111-113.
6. Janavičius R, Pepalyte I, Kučinskas V. Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania. Breast Cancer Res Treat 2009, 117:467-469.
7. Gorski B, Menkiszak J, Gronwald J, Lubinski J, Narod SA. A protein truncating BRCA1 allele with a low penetrance of breast cancer. J Med Genet 2004, 41:12-13.
8. Warner E, Foulkes W, Goodwin P. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999, 91:1241-1247.
9. Moslehi R, Chu W, Karlan B. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. Am J Hum Genet 2000, 66:1259-1272.
10. Harboe TL, Eiberg H, Kern P. A high frequent BRCA1 founder mutation identified in the Greenlandic population. Fam Cancer 2009, 8:413-419.
11. Hansen TV, Ejlertsen B, Albrechtsen A. A common Greenlandic Inuit BRCA1 RING domain founder mutation. Breast Cancer Res Treat 2009, 115:69-76.
12. Menkiszak J, Gronvald J, Gorski B. Hereditary ovarian cancer in Poland. Int J Cancer 2003, 106:942-945.
13. Risch HA, McLaughlin JR, Cole DE. Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 2006, 98:1694-1706.
14. Tobias DH, Eng C, McCurdy LD. Founder BRCA1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients. Gynecol Oncol 78:148-151.
15. Niell BL, Rennert G, Bonner JD, Almog R, Tomsho LP, Gruber SB. BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer. J Natl Cancer Inst 2004, 96:15-21.
16. Sokolenko AP, Mitiushkina NV, Buslov KG. High frequency of BRCA1 5382insC mutation in Russian breast cancer patients. Eur J Cancer 2006, 42:1380-1384.
17. Ladopoulou A, Kroupis C, Konstantopoulou I. Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. Cancer Lett 2002, 185:61-70.
18. Oszurek O, Gorski B, Gronwald J. Founder mutations in the BRCA1 gene in west Belarusian breast-ovarian cancer families. Clin Genet 2001, 60:470-471.
19. Pohlreich P, Zikan M, Stribrna J. High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res 2005, 7:R728-R736.
20. Krajc M, Teugels E, Zgajnar J. Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. BMC Med Genet 2008, 9:83.
21. Byrski T, Huzarski T, Dent R. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2009, 115:359-363.