Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende
Erweiterte Suche
Anmelden
nach oben
Breast Cancer Research and Treatment
Erschienen in: Breast Cancer Research and Treatment 3/2016

12.10.2016 | Review

Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care

verfasst von: Rossella Graffeo, Luca Livraghi, Olivia Pagani, Aron Goldhirsch, Ann H. Partridge, Judy E. Garber

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2016

Einloggen, um Zugang zu erhalten

Abstract

Purpose

Genetic evaluation is increasingly becoming an integral part of the management of women with newly diagnosed breast and ovarian cancer (OC), and of individuals at high risk for these diseases. Genetic counseling and testing have been incorporated into oncological care to help and complete management and treatment strategies. Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1).

Methods

The latter patient groups represent important ongoing research opportunities to enable informed counseling about appropriate clinical management.

Conclusion

We summarize the current guidelines for the management of high and moderate-penetrance mutations for breast and OC susceptibility. Continuous updating of guidelines for proper clinical management of these individuals is ongoing because of rapid advances in technology and knowledge in this field. Thus, we exhort the use of multigene panels for the assessment of cancer risk beyond the classic predisposition syndromes as a new standard of care in cancer genetics. We further support an increase of genetic counselors in Europe and use of their expertise to support genetic testing in specialist multidisciplinary teams.
Literatur
1.
Claus EB et al (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77(11):2318–2324PubMedCrossRef
2.
Foulkes WD (2008) Inherited susceptibility to common cancers. N Engl J Med 359(20):2143–2153PubMedCrossRef
3.
Stratton MR, Rahman N (2008) The emerging landscape of breast cancer susceptibility. Nat Genet 40(1):17–22PubMedCrossRef
4.
Ford D et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62(3):676–689PubMedPubMedCentralCrossRef
5.
Walsh T et al (2011) Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 108(44):18032–18037PubMedPubMedCentralCrossRef
6.
Janavicius R (2010) Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J 1(3):397–412PubMedPubMedCentralCrossRef
7.
Roa BB et al (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14(2):185–187PubMedCrossRef
8.
Lakhani SR et al (2002) The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 20(9):2310–2318PubMedCrossRef
9.
Mavaddat N et al (2012) Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev 21(1):134–147PubMedCrossRef
10.
Mavaddat N et al (2013) Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 105(11):812–822PubMedCrossRef
11.
Medeiros F et al (2006) The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol 30(2):230–236PubMedCrossRef
12.
Finch A et al (2006) Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers. Gynecol Oncol 100(1):58–64PubMedCrossRef
13.
Evans DG et al (2010) Risk of breast cancer in male BRCA2 carriers. J Med Genet 47(10):710–711PubMedCrossRef
14.
15.
Carnevale J, Ashworth A (2015) Assessing the significance of BRCA1 and BRCA2 mutations in pancreatic cancer. J Clin Oncol 33(28):3080–3081PubMedCrossRef
16.
Petersen GM, Hruban RH (2003) Familial pancreatic cancer: where are we in 2003? J Natl Cancer Inst 95(3):180–181PubMedCrossRef
17.
Hearle N et al (2003) Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. Invest Ophthalmol Vis Sci 44(2):458–462PubMedCrossRef
18.
19.
20.
Le-Petross HT et al (2011) Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer 117(17):3900–3907PubMedCrossRef
21.
Piper M et al (2013) Total skin-sparing mastectomy: a systematic review of oncologic outcomes and postoperative complications. Ann Plast Surg 70(4):435–437PubMedCrossRef
22.
Hartmann LC, Lindor NM (2016) The role of risk-reducing surgery in hereditary breast and ovarian cancer. N Engl J Med 374(5):454–468PubMedCrossRef
23.
Canto MI et al (2013) International cancer of the pancreas screening (caps) consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62(3):339–347PubMedCrossRef
24.
Canto MI et al (2012) Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology 142(4):796–804 quiz e14–5 PubMedPubMedCentralCrossRef
25.
Cuzick J et al (2007) Long-term results of tamoxifen prophylaxis for breast cancer—96-month follow-up of the randomized IBIS-I trial. J Natl Cancer Inst 99(4):272–282PubMedCrossRef
26.
Fisher B et al (2005) Tamoxifen for the prevention of breast cancer: current status of the national surgical adjuvant breast and bowel project P-1 study. J Natl Cancer Inst 97(22):1652–1662PubMedCrossRef
27.
Vogel VG et al (2006) Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP study of tamoxifen and raloxifene (STAR) P-2 trial. JAMA 295(23):2727–2741PubMedCrossRef
28.
Phillips KA et al (2013) Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol 31(25):3091–3099PubMedPubMedCentralCrossRef
29.
Decensi A et al (2007) Randomized dose-ranging trial of tamoxifen at low doses in hormone replacement therapy users. J Clin Oncol 25(27):4201–4209PubMedCrossRef
30.
Guerrieri-Gonzaga A et al (2013) Effect of low-dose tamoxifen after surgical excision of ductal intraepithelial neoplasia: results of a large retrospective monoinstitutional cohort study. Ann Oncol 24(7):1859–1866PubMedCrossRef
31.
Goss PE et al (2011) Exemestane for breast-cancer prevention in postmenopausal women. N Engl J Med 364(25):2381–2391PubMedCrossRef
32.
Iodice S et al (2010) Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer 46(12):2275–2284PubMedCrossRef
33.
Moorman PG et al (2013) Oral contraceptives and risk of ovarian cancer and breast cancer among high-risk women: a systematic review and meta-analysis. J Clin Oncol 31(33):4188–4198PubMedCrossRef
34.
Burn J et al (2011) Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378(9809):2081–2087PubMedPubMedCentralCrossRef
35.
Thorlacius S et al (1997) Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet 60(5):1079–1084PubMedPubMedCentral
36.
Friedman LS et al (1997) Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. Am J Hum Genet 60(2):313–319PubMedPubMedCentral
37.
38.
Risch HA et al (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. J Natl Cancer Inst 98(23):1694–1706PubMedCrossRef
39.
Schneider K et al (1993) Li-Fraumeni syndrome. In: Pagon RA et al (eds) GeneReviews(R). University of Washington, Seattle
40.
41.
van Lier MG et al (2010) High cancer risk in Peutz–Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 105(6):1258–1264 author reply 1265 PubMedCrossRef
42.
Hansford S et al (2015) Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol 1(1):23–32PubMedCrossRef
43.
Stoffel E et al (2009) Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 137(5):1621–1627PubMedPubMedCentralCrossRef
44.
Win AK et al (2012) Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. J Clin Oncol 30(9):958–964PubMedPubMedCentralCrossRef
45.
46.
Engel C et al (2012) Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol 30(35):4409–4415PubMedCrossRef
47.
48.
Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348(10):919–932PubMedCrossRef
49.
50.
Weischer M et al (2008) CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 26(4):542–548PubMedCrossRef
51.
Song H et al (2015) Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population. J Clin Oncol 33:2901–2907PubMedPubMedCentralCrossRef
52.
53.
Rafnar T et al (2011) Mutations in <Emphasis Type="Italic">BRIP1</Emphasis> confer high risk of ovarian cancer. Nat Genet 43(11):1104–1107
54.
Uusitalo E et al (2016) Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol 34(17):1978–1986PubMedCrossRef
55.
Pritchard CC et al (2016) Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 375:443–453PubMedCrossRef
56.
57.
Byrski T et al (2014) Pathologic complete response to neoadjuvant cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 147(2):401–405PubMedCrossRef
58.
Tutt A et al (2014) The TNT trial. 2014 San Antonio Breast Cancer Symposium. Abstract S3-01, Presented 11, 2014
59.
Ledermann J et al (2014) Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol 15(8):852–861PubMedCrossRef
60.
61.
Mateo J et al (2015) DNA-repair defects and olaparib in metastatic prostate cancer. N Engl J Med 373(18):1697–1708PubMedCrossRef
62.
Kaufman B et al (2015) Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33(3):244–250PubMedCrossRef
63.
Burgess M, Puhalla S (2014) BRCA 1/2-mutation related and sporadic breast and ovarian cancers: more alike than different. Front Oncol 4:19PubMedPubMedCentral
64.
Wiggans AJ et al (2015) Poly(ADP-ribose) polymerase (PARP) inhibitors for the treatment of ovarian cancer. Cochrane Database Syst Rev 5:CD007929
65.
Fong PC et al (2009) Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 361(2):123–134PubMedCrossRef
66.
Thompson ER et al (2016) Panel testing for familial breast cancer: calibrating the tension between research and clinical care. J Clin Oncol 34(13):1455–1459PubMedCrossRef
67.
Yurgelun MB et al (2015) Identification of a variety of mutations in cancer predisposition genes in patients with suspected lynch syndrome. Gastroenterology 149(3):604–613.e20PubMedPubMedCentralCrossRef
68.
Tung N et al (2016) Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 34(13):1460–1468PubMedCrossRef
69.
Tung N et al (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121(1):25–33PubMedCrossRef
70.
Desmond A et al (2015) Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol 1(7):943–951PubMedCrossRef
71.
Castera L et al (2014) Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22(11):1305–1313PubMedPubMedCentralCrossRef
72.
Cancer Genome Atlas Network (2012) Comprehensive molecular portraits of human breast tumours. Nature 490(7418):61–70CrossRef
73.
74.
Eng C (1993) PTEN hamartoma tumor syndrome (PHTS). In: Pagon RA et al (eds) GeneReviews(R). University of Washington, Seattle
75.
McGarrity TJ et al (1993) Peutz-Jeghers syndrome. In: Pagon RA et al (eds) GeneReviews(R). University of Washington, Seattle
76.
77.
Nichols KE et al (2001) Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarkers Prev 10(2):83–87PubMed
78.
Gonzalez KD et al (2009) Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27(8):1250–1256PubMedCrossRef
79.
McCuaig JM et al (2012) Routine TP53 testing for breast cancer under age 30: ready for prime time? Fam Cancer 11(4):607–613PubMedCrossRef
80.
Melhem-Bertrandt A et al (2012) Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Cancer 118(4):908–913PubMedCrossRef
81.
Giacomazzi J et al (2013) Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. Cancer 119(24):4341–4349PubMedCrossRef
82.
Schulz E et al (2012) Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms. J Med Genet 49(7):422–428PubMedCrossRef
83.
Fitzgerald RC et al (2010) Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 47(7):436–444PubMedPubMedCentralCrossRef
84.
Lynch HT et al (2008) Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy. Cancer 112(12):2655–2663PubMedPubMedCentralCrossRef
85.
Seevaratnam R et al (2012) A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer. Gastric Cancer 15(Suppl 1):S153–S163PubMedCrossRef
86.
Li J et al (2013) Laparoscopic prophylactic total gastrectomy with linear stapler side-to-side esophagojejunal anastomosis for hereditary diffuse gastric cancer syndrome in 2 siblings. Surg Laparosc Endosc Percutaneous Tech 23(3):e124–e126CrossRef
87.
Kaurah P et al (2010) Pregnancy after prophylactic total gastrectomy. Fam Cancer 9(3):331–334PubMedCrossRef
88.
Dreyer L, Jacyk WK, du Plessis DJ (1994) Bilateral large-cell calcifying Sertoli cell tumor of the testes with Peutz–Jeghers syndrome: a case report. Pediatr Dermatol 11(4):335–337PubMedCrossRef
89.
Giardiello FM et al (2014) Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Dis Colon Rectum 57(8):1025–1048PubMedCrossRef
90.
Syngal S et al (2015) ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110(2):223–262 quiz 263 PubMedPubMedCentralCrossRef
91.
Giardiello FM et al (2014) Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Am J Gastroenterol 109(8):1159–1179PubMedCrossRef
92.
Vasen HF et al (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62(6):812–823PubMedPubMedCentralCrossRef
93.
South CD et al (2008) The frequency of Muir–Torre syndrome among Lynch syndrome families. J Natl Cancer Inst 100(4):277–281PubMedCrossRef
94.
Balmana J et al (2013) Familial risk-colorectal cancer: ESMO clinical practice guidelines. Ann Oncol 24(Suppl 6):vi73–vi80PubMedCrossRef
95.
Stoffel EM et al (2015) 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(2):209–217PubMedCrossRef
96.
97.
Starink TM et al (1986) The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 29(3):222–233PubMedCrossRef
98.
99.
Ngeow J et al (2014) Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. J Clin Oncol 32(17):1818–1824PubMedPubMedCentralCrossRef
100.
Choi HS et al (2000) Clinical characteristics of Peutz-Jeghers syndrome in Korean polyposis patients. Int J Colorectal Dis 15(1):35–38PubMedCrossRef
101.
102.
van Lier MG et al (2011) High cancer risk and increased mortality in patients with Peutz–Jeghers syndrome. Gut 60(2):141–147PubMedCrossRef
103.
Srivatsa PJ, Keeney GL, Podratz KC (1994) Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz–Jeghers syndrome. Gynecol Oncol 53(2):256–264PubMedCrossRef
104.
van Lier MG et al (2011) High cumulative risk of intussusception in patients with Peutz–Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol 106(5):940–945PubMedCrossRef
105.
Wilson DM et al (1986) Testicular tumors with Peutz–Jeghers syndrome. Cancer 57(11):2238–2240PubMedCrossRef
106.
Beggs AD et al (2010) Peutz–Jeghers syndrome: a systematic review and recommendations for management. Gut 59(7):975–986PubMedCrossRef
107.
Umar A et al (2004) Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268PubMedPubMedCentralCrossRef
108.
Pinol V et al (2005) Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293(16):1986–1994PubMedCrossRef
109.
110.
111.
112.
Renwick A et al (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873–875PubMedCrossRef
113.
Blanco A et al (2012) Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res Treat 132(1):307–315PubMedCrossRef
114.
Tischkowitz MD et al (2009) Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology 137(3):1183–1186PubMedPubMedCentralCrossRef
115.
Cybulski C et al (2011) Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 29(28):3747–3752PubMedCrossRef
116.
Cybulski C et al (2007) Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? Eur J Hum Genet 15(2):237–241PubMedCrossRef
117.
Pommier Y et al (2005) Targeting chk2 kinase: molecular interaction maps and therapeutic rationale. Curr Pharm Des 11(22):2855–2872PubMedCrossRef
118.
Weischer M et al (2012) CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 30(35):4308–4316PubMedPubMedCentralCrossRef
119.
Xiang HP et al (2011) Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. Eur J Cancer 47(17):2546–2551PubMedCrossRef
120.
Meijers-Heijboer H et al (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31(1):55–59PubMedCrossRef
121.
122.
123.
Naslund-Koch C, Nordestgaard BG, Bojesen SE (2016) Increased risk for other cancers in addition to breast cancer for CHEK2*1100delC heterozygotes estimated from the copenhagen general population study. J Clin Oncol 34(11):1208–1216PubMedCrossRef
124.
Shiloh Y (2003) ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 3(3):155–168PubMedCrossRef
125.
Paglia LL et al (2010) ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy. Breast Cancer Res Treat 119(2):443–452PubMedCrossRef
126.
Swift M et al (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39(5):573–583PubMedPubMedCentral
127.
Roberts NJ et al (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41–46PubMedCrossRef
128.
Bernstein JL et al (2010) Radiation exposure, the ATM gene, and contralateral breast cancer in the women’s environmental cancer and radiation epidemiology study. J Natl Cancer Inst 102(7):475–483PubMedPubMedCentralCrossRef
129.
130.
131.
Uusitalo E et al (2015) Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 135(3):904–906PubMedCrossRef
132.
Sharif S et al (2007) Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 44(8):481–484PubMedPubMedCentralCrossRef
133.
De Leeneer K et al (2012) Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing. Breast Cancer Res Treat 133(1):393–398PubMedCrossRef
134.
Sopik V, Akbari MR, Narod SA (2015) Genetic testing for RAD51C mutations: in the clinic and community. Clin Genet 88(4):303–312PubMedCrossRef
135.
Levitus M et al (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group. J Nat Genet 37(9):934–935PubMedCrossRef
136.
Easton DF et al (2016) No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet 53:298–309PubMedCrossRefPubMedCentral
137.
Ramus SJ et al (2015) Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J Natl Cancer Inst 107(11):djv214PubMedPubMedCentral
138.
Liang J et al (2013) APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and metaanalysis. Am J Epidemiol 177:1169–1179PubMedCrossRef
139.
Ma X et al (2014) Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Gut 63:326–336PubMedCrossRef
140.
Armstrong J et al (2015) Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the about study. JAMA Oncol 1(9):1251–1260PubMedCrossRef
141.
Wideroff L et al (2005) Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet 42(10):749–755PubMedPubMedCentralCrossRef
142.
Thompson ER et al (2012) Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet 8(9):e1002894PubMedPubMedCentralCrossRef
143.
144.
Sermon K, Van Steirteghem A, Liebaers I (2004) Preimplantation genetic diagnosis. Lancet 363(9421):1633–1641PubMedCrossRef
145.
Dewanwala A et al (2011) Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Fam Cancer 10(3):549–556PubMedPubMedCentralCrossRef
146.
National Society of Genetic Counselors’ Definition Task F et al (2006) A new definition of genetic counseling: national society of genetic counselors’ task force report. J Genet Couns 15(2):77–83CrossRef
147.
Skirton H et al (2015) The role of the genetic counsellor: a systematic review of research evidence. Eur J Hum Genet 23(4):452–458PubMedCrossRef
148.
Pestoff R, Ingvoldstad C, Skirton H (2016) Genetic counsellors in Sweden: their role and added value in the clinical setting. Eur J Hum Genet 24(3):350–355PubMedCrossRef
149.
Cordier C et al (2016) Genetic professionals’ views on genetic counsellors: a French survey. J Community Genet 7(1):51–55PubMedCrossRef
Metadaten
Titel
Time to incorporate germline multigene panel testing into breast and ovarian cancer patient care
verfasst von
Rossella Graffeo
Luca Livraghi
Olivia Pagani
Aron Goldhirsch
Ann H. Partridge
Judy E. Garber
Publikationsdatum
12.10.2016
Verlag
Springer US
Erschienen in
Breast Cancer Research and Treatment / Ausgabe 3/2016
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI
https://doi.org/10.1007/s10549-016-4003-9

Weitere Artikel der Ausgabe 3/2016

Breast Cancer Research and Treatment 3/2016 Zur Ausgabe

Epidemiology

Use of complementary and alternative medicine and breast cancer survival in the Health, Eating, Activity, and Lifestyle Study

Preclinical study

Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family

Epidemiology

Breast-conserving therapy versus mastectomy in T1-2N2 stage breast cancer: a population-based study on 10-year overall, relative, and distant metastasis-free survival in 3071 patients

Acknowledgments

Acknowledgement of reviewers 2015

Clinical Trial

Changes in chemotherapy usage and outcome of early breast cancer patients in the last decade

Review

Platinum salts in advanced breast cancer: a systematic review and meta-analysis of randomized clinical trials

Neu im Fachgebiet Onkologie

25.04.2024 | Nierenkarzinom | Nachrichten

Adjuvante Immuntherapie verlängert Leben bei RCC

25.04.2024 | NSCLC | Nachrichten

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

24.04.2024 | DGIM 2024 | Nachrichten

Bei Senioren mit Prostatakarzinom auf Anämie achten!

23.04.2024 | Medikamente in Schwangerschaft und Stillzeit | Nachrichten

ICI-Therapie in der Schwangerschaft wird gut toleriert
weitere anzeigen

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen