CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort

Zurück zum Zitat Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F (1995) E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14(24):6107–6115PubMedPubMedCentral Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, Cornelisse C, van Roy F (1995) E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14(24):6107–6115PubMedPubMedCentral

Zurück zum Zitat Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47(7):436–444CrossRefPubMedPubMedCentral Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47(7):436–444CrossRefPubMedPubMedCentral

Zurück zum Zitat Sagara Y, Barry WT, Mallory MA, Vaz-Luis I, Aydogan F, Brock JE, Winer EP, Golshan M, Metzger-Filho O (2015) Surgical options and locoregional recurrence in patients diagnosed with invasive lobular carcinoma of the breast. Ann Surg Oncol 22:4280–4286CrossRefPubMedPubMedCentral Sagara Y, Barry WT, Mallory MA, Vaz-Luis I, Aydogan F, Brock JE, Winer EP, Golshan M, Metzger-Filho O (2015) Surgical options and locoregional recurrence in patients diagnosed with invasive lobular carcinoma of the breast. Ann Surg Oncol 22:4280–4286CrossRefPubMedPubMedCentral

Zurück zum Zitat Rakha EA, El-Sayed ME, Powe DG, Green AR, Habashy H, Grainge MJ, Robertson JF, Blamey R, Gee J, Nicholson RI, Lee AH, Ellis IO (2008) Invasive lobular carcinoma of the breast: response to hormonal therapy and outcomes. Eur J Cancer 44(1):73–83CrossRefPubMed Rakha EA, El-Sayed ME, Powe DG, Green AR, Habashy H, Grainge MJ, Robertson JF, Blamey R, Gee J, Nicholson RI, Lee AH, Ellis IO (2008) Invasive lobular carcinoma of the breast: response to hormonal therapy and outcomes. Eur J Cancer 44(1):73–83CrossRefPubMed

Zurück zum Zitat Chikman B, Davidson T, Kais H, Jeroukhimov I, Leshno A, Sandbank J, Halevy A, Lavy R (2015) Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer? Fam Cancer 15:41–47CrossRef Chikman B, Davidson T, Kais H, Jeroukhimov I, Leshno A, Sandbank J, Halevy A, Lavy R (2015) Is there an association between invasive lobular carcinoma of the breast and a family history of gastric cancer? Fam Cancer 15:41–47CrossRef

Zurück zum Zitat Arpino G, Bardou VJ, Clark GM, Elledge RM (2004) Infiltrating lobular carcinoma of the breast: tumor characteristics and clinical outcome. Breast Cancer Res 6(3):R149–R156CrossRefPubMedPubMedCentral Arpino G, Bardou VJ, Clark GM, Elledge RM (2004) Infiltrating lobular carcinoma of the breast: tumor characteristics and clinical outcome. Breast Cancer Res 6(3):R149–R156CrossRefPubMedPubMedCentral

Zurück zum Zitat Ping Z, Siegal GP, Harada S, Eltoum IE, Youssef M, Shen T, He J, Huang Y, Chen D, Li Y, Bland KI, Chang HR, Shen D (2016) ERBB2 mutation is associated with a worse prognosis in patients with CDH1 altered invasive lobular cancer of the breast. Oncotarget 7(49):80655–80663PubMedPubMedCentral Ping Z, Siegal GP, Harada S, Eltoum IE, Youssef M, Shen T, He J, Huang Y, Chen D, Li Y, Bland KI, Chang HR, Shen D (2016) ERBB2 mutation is associated with a worse prognosis in patients with CDH1 altered invasive lobular cancer of the breast. Oncotarget 7(49):80655–80663PubMedPubMedCentral

Zurück zum Zitat Euhus D (2014) Genetic testing today. Ann Surg Oncol 21(10):3209–3215CrossRefPubMed Euhus D (2014) Genetic testing today. Ann Surg Oncol 21(10):3209–3215CrossRefPubMed

Zurück zum Zitat Desmedt C, Zoppoli G, Gundem G, Pruneri G, Larsimont D, Fornili M, Fumagalli D, Brown D, Rothe F, Vincent D, Kheddoumi N, Rouas G, Majjaj S, Brohee S, Van Loo P, Maisonneuve P, Salgado R, Van Brussel T, Lambrechts D, Bose R, Metzger O, Galant C, Bertucci F, Piccart-Gebhart M, Viale G, Biganzoli E, Campbell PJ, Sotiriou C (2016) Genomic characterization of primary invasive lobular breast cancer. J Clin Oncol 34(16):1872–1881CrossRefPubMed Desmedt C, Zoppoli G, Gundem G, Pruneri G, Larsimont D, Fornili M, Fumagalli D, Brown D, Rothe F, Vincent D, Kheddoumi N, Rouas G, Majjaj S, Brohee S, Van Loo P, Maisonneuve P, Salgado R, Van Brussel T, Lambrechts D, Bose R, Metzger O, Galant C, Bertucci F, Piccart-Gebhart M, Viale G, Biganzoli E, Campbell PJ, Sotiriou C (2016) Genomic characterization of primary invasive lobular breast cancer. J Clin Oncol 34(16):1872–1881CrossRefPubMed

Zurück zum Zitat van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O’Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 52(6):361–374CrossRefPubMedPubMedCentral van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O’Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC (2015) Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet 52(6):361–374CrossRefPubMedPubMedCentral

Zurück zum Zitat Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG (2015) Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1(1):23–32CrossRefPubMed Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG (2015) Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1(1):23–32CrossRefPubMed

Zurück zum Zitat Huynh JM, Laukaitis CM (2016) Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. Mol Genet Genom Med 4(2):232–236CrossRef Huynh JM, Laukaitis CM (2016) Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. Mol Genet Genom Med 4(2):232–236CrossRef

Zurück zum Zitat Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, Bignon YJ (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117(14):3112–3117CrossRefPubMed Xie ZM, Li LS, Laquet C, Penault-Llorca F, Uhrhammer N, Xie XM, Bignon YJ (2011) Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. Cancer 117(14):3112–3117CrossRefPubMed

Zurück zum Zitat Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A (2017) Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int J Cancer 140(1):95–102CrossRefPubMed Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A (2017) Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int J Cancer 140(1):95–102CrossRefPubMed

Zurück zum Zitat Risinger JI, Berchuck A, Kohler MF, Boyd J (1994) Mutations of the E-cadherin gene in human gynecologic cancers. Nat Genet 7(1):98–102CrossRefPubMed Risinger JI, Berchuck A, Kohler MF, Boyd J (1994) Mutations of the E-cadherin gene in human gynecologic cancers. Nat Genet 7(1):98–102CrossRefPubMed

Zurück zum Zitat Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gomez-Garcia EB (2015) BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol 26(10):2057–2065CrossRefPubMedPubMedCentral Eccles DM, Mitchell G, Monteiro AN, Schmutzler R, Couch FJ, Spurdle AB, Gomez-Garcia EB (2015) BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol 26(10):2057–2065CrossRefPubMedPubMedCentral

Zurück zum Zitat Fujita H, Lennerz JK, Chung DC, Patel D, Deshpande V, Yoon SS, Lauwers GY (2012) Endoscopic surveillance of patients with hereditary diffuse gastric cancer: biopsy recommendations after topographic distribution of cancer foci in a series of 10 CDH1-mutated gastrectomies. Am J Surg Pathol 36(11):1709–1717CrossRefPubMed Fujita H, Lennerz JK, Chung DC, Patel D, Deshpande V, Yoon SS, Lauwers GY (2012) Endoscopic surveillance of patients with hereditary diffuse gastric cancer: biopsy recommendations after topographic distribution of cancer foci in a series of 10 CDH1-mutated gastrectomies. Am J Surg Pathol 36(11):1709–1717CrossRefPubMed

Zurück zum Zitat Hebbard PC, Macmillan A, Huntsman D, Kaurah P, Carneiro F, Wen X, Kwan A, Boone D, Bursey F, Green J, Fernandez B, Fontaine D, Wirtzfeld DA (2009) Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol 16(7):1890–1895CrossRefPubMed Hebbard PC, Macmillan A, Huntsman D, Kaurah P, Carneiro F, Wen X, Kwan A, Boone D, Bursey F, Green J, Fernandez B, Fontaine D, Wirtzfeld DA (2009) Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol 16(7):1890–1895CrossRefPubMed

Zurück zum Zitat Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Nogues C, Fourme E, Colas C, Coulet F, Warcoin M, Grandjouan S, Sezeur A, Laurent-Puig P, Moliere D, Tlemsani C, Di Maria M, Byrde V, Delaloge S, Blayau M, Caron O (2013) CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet 50(7):486–489CrossRefPubMed Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Nogues C, Fourme E, Colas C, Coulet F, Warcoin M, Grandjouan S, Sezeur A, Laurent-Puig P, Moliere D, Tlemsani C, Di Maria M, Byrde V, Delaloge S, Blayau M, Caron O (2013) CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study. J Med Genet 50(7):486–489CrossRefPubMed

Zurück zum Zitat Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536(7616):285–291CrossRefPubMedPubMedCentral Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Exome Aggregation Consortium (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536(7616):285–291CrossRefPubMedPubMedCentral