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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

Mann GJ, Thorne H, Balleine RL, Butow PN, Clarke CL, Edkins E, Evans GM, Fereday S, Haan E, Gattas M, Giles GG, Goldblatt J, Hopper JL, Kirk J, Leary JA, Lindeman G, Niedermayr E, Phillips KA, Picken S, Pupo GM, Saunders C, Scott CL, Spurdle AB, Suthers G, Tucker K, Chenevix-Trench G; Kathleen Cuningham Consortium for Research in Familial Breast Cancer.

Breast Cancer Res. 2006;8(1):R12. Epub 2006 Feb 13.


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.

Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjäkoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF.

Am J Hum Genet. 2003 May;72(5):1117-30. Epub 2003 Apr 3. Erratum in: Am J Hum Genet. 2003 Sep;73(3):709.


Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer.

Schorge JO, Mahoney NM, Miller DS, Coleman RL, Muller CY, Euhus DM, Tomlinson GE.

Gynecol Oncol. 2001 Nov;83(2):383-7.


Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic.

Martin AM, Blackwood MA, Antin-Ozerkis D, Shih HA, Calzone K, Colligon TA, Seal S, Collins N, Stratton MR, Weber BL, Nathanson KL.

J Clin Oncol. 2001 Apr 15;19(8):2247-53.


BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation.

Vaidyanathan K, Lakhotia S, Ravishankar HM, Tabassum U, Mukherjee G, Somasundaram K.

J Biosci. 2009 Sep;34(3):415-22.


Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic.

Brooks GA, Stopfer JE, Erlichman J, Davidson R, Nathanson KL, Domchek SM.

Cancer Biol Ther. 2006 Sep;5(9):1098-102. Epub 2006 Sep 11.


BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

Peixoto A, Salgueiro N, Santos C, Varzim G, Rocha P, Soares MJ, Pereira D, Rodrigues H, Bento MJ, Fráguas A, Moura G, Regateiro F, Castedo S, Teixeira MR.

Fam Cancer. 2006;5(4):379-87. Epub 2006 Jul 7.


BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic.

Shih HA, Couch FJ, Nathanson KL, Blackwood MA, Rebbeck TR, Armstrong KA, Calzone K, Stopfer J, Seal S, Stratton MR, Weber BL.

J Clin Oncol. 2002 Feb 15;20(4):994-9.


Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

Verhoog LC, van den Ouweland AM, Berns E, van Veghel-Plandsoen MM, van Staveren IL, Wagner A, Bartels CC, Tilanus-Linthorst MM, Devilee P, Seynaeve C, Halley DJ, Niermeijer MF, Klijn JG, Meijers-Heijboer H.

Eur J Cancer. 2001 Nov;37(16):2082-90.


No germline mutations in the histone acetyltransferase gene EP300 in BRCA1 and BRCA2 negative families with breast cancer and gastric, pancreatic, or colorectal cancer.

Campbell IG, Choong D, Chenevix-Trench G; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer.

Breast Cancer Res. 2004;6(4):R366-71. Epub 2004 May 14.


Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

Loman N, Johannsson O, Kristoffersson U, Olsson H, Borg A.

J Natl Cancer Inst. 2001 Aug 15;93(16):1215-23.


BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

Capalbo C, Ricevuto E, Vestri A, Ristori E, Sidoni T, Buffone O, Adamo B, Cortesi E, Marchetti P, Scambia G, Tomao S, Rinaldi C, Zani M, Ferraro S, Frati L, Screpanti I, Gulino A, Giannini G.

Ann Oncol. 2006 Jun;17 Suppl 7:vii34-40.


BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

Antoniou AC, Durocher F, Smith P, Simard J, Easton DF; INHERIT BRCAs program members.

Breast Cancer Res. 2006;8(1):R3. Epub 2005 Dec 12.


BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

Bergthorsson JT, Ejlertsen B, Olsen JH, Borg A, Nielsen KV, Barkardottir RB, Klausen S, Mouridsen HT, Winther K, Fenger K, Niebuhr A, Harboe TL, Niebuhr E.

J Med Genet. 2001 Jun;38(6):361-8.


Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M, Provan PJ, Byth K; kConFab Investigators, Balleine RL.

Pathology. 2008 Jun;40(4):352-8. doi: 10.1080/00313020802035899.


Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Thirthagiri E, Lee SY, Kang P, Lee DS, Toh GT, Selamat S, Yoon SY, Taib NA, Thong MK, Yip CH, Teo SH.

Breast Cancer Res. 2008;10(4):R59. doi: 10.1186/bcr2118. Epub 2008 Jul 16.

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