Ordering
  • Test code: 01201
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
Billing
 

Invitae Breast and Gyn Cancers Panel

Test description

The Invitae Breast and Gyn Cancers Panel analyzes genes associated with hereditary breast, ovarian, and uterine cancers. These genes were selected based on the available evidence to date to provide Invitae’s broadest test for women’s breast and gynecologic cancers.

The primary panel includes 23 genes that are associated with hereditary breast, ovarian, and uterine cancers. In addition to the primary panel, clinicians can also choose to include 14 genes that have preliminary evidence of an association with these cancer types. At this time, the association of these genes with these cancers remains uncertain, however some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Order test

Primary panel (23 genes)

ATM BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 DICER1 EPCAM MLH1 MSH2 MSH6 NBN NF1 PALB2 PMS2 PTEN RAD50 RAD51C RAD51D SMARCA4 STK11 TP53

Add-on Preliminary-evidence Genes for Breast and Gyn Cancer (13 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ABRAXAS1 AKT1 CDC73 FANCC FANCM MRE11 MUTYH PIK3CA POLD1 RINT1 SDHB SDHD XRCC2

Alternative tests to consider

These genes can also be ordered as part a broader, cross-cancer, multi-gene panel. Depending on the individual’s clinical and family history, this broader panel may be appropriate. This broader panel can be ordered at no additional charge.

  • Cowden and Cowden-like syndrome
  • DICER1 syndrome
  • hereditary breast and ovarian cancer syndrome (HBOC)
  • hereditary diffuse gastric cancer (HDGC)
  • Li-Fraumeni syndrome (LFS)
  • Lynch syndrome – also known as hereditary non-polyposis colorectal cancer (HNPCC)
  • neurofibromatosis type 1 (NF1)
  • Peutz-Jeghers syndrome (PJS)

This test analyzes genes that are associated with hereditary breast, ovarian, and uterine cancers. Gynecologic cancers include those of the ovary and uterus. The general population risks for breast, ovarian, and uterine cancer are 12%, 1.3%, and 2.7%, respectively. Like breast cancer, most cases of gynecologic cancers are sporadic and not inherited; however, approximately 5%-10% of breast and gynecologic cancers are due to an inherited predisposition.

Pathogenic mutations in BRCA1 or BRCA2 account for the majority of hereditary breast and ovarian cancer cases in individuals with a strong family history or an early-onset diagnosis.
Lynch syndrome is the most common inherited cause of uterine cancer and is also a common genetic cause of ovarian and colon cancer.

The other genes on this panel are associated with different hereditary cancer syndromes that predispose individuals to breast and/or gynecologic cancers. Their inclusion is expected to increase the clinical sensitivity of this test.

Individuals with a pathogenic variant in one of these genes have a significantly increased risk of developing cancer, many of which may be difficult both to detect and to treat. Identifying those at high risk enables implementation of additional screening, surveillance, and interventions. These efforts may result in risk-reduction and early diagnosis, increasing the chances of successful treatment and survival.

Individuals with a pathogenic variant in one of these genes have an increased risk of malignancy compared to the average person, but not everyone with such a variant will actually develop cancer. Further, the same variant may manifest with different symptoms, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may be beneficial.

For gene-associated cancer risks, download our Cancer risk poster.

Most of the genes on this panel have autosomal dominant inheritance. Several also have autosomal recessive inheritance, or result in clinically distinct autosomal recessive conditions, as outlined below:

  • BRCA2, BRIP1, FANCC, PALB2, and RAD51C are associated with Fanconi anemia.
  • ATM and MRE11 are associated with ataxia-telangiectasia and ataxia-telangiectasia-like disorder (ATLD), respectively.
  • MLH1, MSH2, PMS2, and MSH6 are associated with constitutional mismatch repair deficiency (CMMR-D).
  • NBN and RAD50 are associated with Nijmegen breakage syndrome and Nijmegen breakage syndrome-like disorder (NBSLD), respectively.

This panel may be considered for individuals with:

  • breast, ovarian and/or uterine cancer, particularly if early-onset (<50 years of age)
  • multiple primary cancers when at least one is ovarian, uterine, or fallopian tube cancer
  • a family history of one of these hereditary cancers or other associated cancer types

There are also some common general features that are suggestive of a hereditary cancer syndrome family. These include:

  • cancer diagnosed at an unusually young age
  • different types of cancer that have occurred independently in the same person
  • cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)
  • several close blood relatives that have the same type of cancer
  • unusual cases of a specific cancer type (e.g., male breast cancer)

  1. Baker, JL, et al. Breast cancer in a RAD51D mutation carrier: case report and review of the literature. Clin. Breast Cancer. 2015; 15(1):e71-5. doi: 10.1016/j.clbc.2014.08.005. PMID: 25445424
  2. De, Brakeleer, S, et al. Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum. Mutat. 2010; 31(3):E1175-85. doi: 10.1002/humu.21200. PMID: 20077502
  3. Tan, MH, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin. Cancer Res. 2012; 18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283. PMID: 22252256
  4. van, der, Post, RS, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J. Med. Genet. 2015; 52(6):361-74. doi: 10.1136/jmedgenet-2015-103094. PMID: 25979631
  5. Antoniou, AC, et al. Breast-cancer risk in families with mutations in PALB2. N. Engl. J. Med. 2014; 371(6):497-506. doi: 10.1056/NEJMoa1400382. PMID: 25099575
  6. Heikkinen, K, et al. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis. 2006; 27(8):1593-9. doi: 10.1093/carcin/bgi360. PMID: 16474176
  7. Walsh, T, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc. Natl. Acad. Sci. U.S.A. 2011; 108(44):18032-7. doi: 10.1073/pnas.1115052108. PMID: 22006311
  8. Meindl, A, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat. Genet. 2010; 42(5):410-4. PMID: 20400964
  9. Ahmed, M, Rahman, N. ATM and breast cancer susceptibility. Oncogene. 2006; 25(43):5906-11. doi: 10.1038/sj.onc.1209873. PMID: 16998505
  10. Madanikia, SA, et al. Increased risk of breast cancer in women with NF1. Am. J. Med. Genet. A. 2012; 158A(12):3056-60. PMID: 23165953
  11. Damiola, F, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res. 2014; 16(3):R58. doi: 10.1186/bcr3669. PMID: 24894818
  12. van, Lier, MG, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am. J. Gastroenterol. 2010; 105(6):1258-64; author reply 1265. PMID: 20051941
  13. Cybulski, C, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J. Clin. Oncol. 2011; 29(28):3747-52. doi: 10.1200/JCO.2010.34.0778. PMID: 21876083
  14. Rafnar, T, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat. Genet. 2011; 43(11):1104-7. PMID: 21964575
  15. Witkowski, L, et al. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat. Genet. 2014; 46(5):438-43. doi: 10.1038/ng.2931. PMID: 24658002
  16. Seminog, OO, Goldacre, MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br. J. Cancer. 2013; 108(1):193-8. PMID: 23257896
  17. Pharoah, PD, et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001; 121(6):1348-53. doi: 10.1053/gast.2001.29611. PMID: 11729114
  18. Loveday, C, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat. Genet. 2011; 43(9):879-82. PMID: 21822267
  19. Seal, S, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 2006; 38(11):1239-41. PMID: 17033622
  20. Park, DJ, et al. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov. 2014; 4(7):804-15. doi: 10.1158/2159-8290.CD-14-0212. PMID: 25050558
  21. Thompson, D, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl. Cancer Inst. 2005; 97(11):813-22. doi: 10.1093/jnci/dji141. PMID: 15928302
  22. Kaurah, P, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007; 297(21):2360-72. doi: 10.1001/jama.297.21.2360. PMID: 17545690
  23. Hansford, S, et al. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015; 1(1):23-32. doi: 10.1001/jamaoncol.2014.168. PMID: 26182300
  24. Ratajska, M, et al. Cancer predisposing BARD1 mutations in breast-ovarian cancer families. Breast Cancer Res. Treat. 2012; 131(1):89-97. doi: 10.1007/s10549-011-1403-8. PMID: 21344236
  25. Ramos, P, et al. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat. Genet. 2014; 46(5):427-9. doi: 10.1038/ng.2928. PMID: 24658001
  26. Schneider, K, et al. Li-Fraumeni Syndrome. 1999 Jan 19. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle. PMID: 20301488
  27. Aarnio, M. Clinicopathological features and management of cancers in lynch syndrome. Patholog Res Int. 2012; 2012:350309. doi: 10.1155/2012/350309. PMID: 22619739
  28. Ford, D, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994; 343(8899):692-5. doi: 10.1136/jmg.31.6.504-d. PMID: 7907678
  29. Thompson, ER, et al. Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer. PLoS ONE. 2013; 8(1):e54772. PMID: 23372765
  30. Castéra, L, et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur. J. Hum. Genet. 2014; 22(11):1305-13. doi: 10.1038/ejhg.2014.16. PMID: 24549055
  31. Slade, I, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J. Med. Genet. 2011; 48(4):273-8. doi: 10.1136/jmg.2010.083790. PMID: 21266384
  32. Ford, D, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet. 1998; 62(3):676-89. doi: 10.1086/301749. PMID: 9497246
  33. Bonadona, V, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011; 305(22):2304-10. doi: 10.1001/jama.2011.743. PMID: 21642682
  34. Wu, Y, et al. DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. Eur J Med Genet. 2014; 57(11-12):621-5. doi: 10.1016/j.ejmg.2014.09.008. PMID: 25451712
  35. Zhang, B, et al. Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol. 2011; 12(5):477-88. PMID: 21514219
  36. Loveday, C, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat. Genet. 2012; 44(5):475-6; author reply 476. PMID: 22538716
  37. Bougeard, G, et al. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. J. Clin. Oncol. 2015; 33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. PMID: 26014290
  38. Dowty, JG, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum. Mutat. 2013; 34(3):490-7. doi: 10.1002/humu.22262. PMID: 23255516
  39. Steffen, J, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int. J. Cancer. 2006; 119(2):472-5. PMID: 16770759
  40. Engel, C, et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J. Clin. Oncol. 2012; 30(35):4409-15. doi: 10.1200/JCO.2012.43.2278. PMID: 23091106
  41. Toss, A, et al. Hereditary ovarian cancer: not only BRCA 1 and 2 genes. Biomed Res Int. 2015; 2015:341723. doi: 10.1155/2015/341723. PMID: 26075229
  42. Kempers, MJ, et al. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011; 12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. PMID: 21145788
  43. Minion, LE, et al. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2. Gynecol. Oncol. 2015; 137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. PMID: 25622547
  44. Pennington, KP, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin. Cancer Res. 2014; 20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. PMID: 24240112
  45. Barrow, E, et al. Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. Clin. Genet. 2009; 75(2):141-9. doi: 10.1111/j.1399-0004.2008.01125.x. PMID: 19215248
  46. Coulet, F, et al. Germline RAD51C mutations in ovarian cancer susceptibility. Clin. Genet. 2013; 83(4):332-6. doi: 10.1111/j.1399-0004.2012.01917.x. PMID: 22725699
  47. Bailey, S, et al. Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Pediatr Blood Cancer. 2015; 62(4):728-30. doi: 10.1002/pbc.25279. PMID: 25307865
  48. Antoniou, A, et al. 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. Am. J. Hum. Genet. 2003; 72(5):1117-30. doi: 10.1086/375033. PMID: 12677558
  49. Foulkes, WD, et al. No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J. Pathol. 2014; 233(3):209-14. doi: 10.1002/path.4362. PMID: 24752781
  50. Chompret, A, et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br. J. Cancer. 2000; 82(12):1932-7. doi: 10.1054/bjoc.2000.1167. PMID: 10864200
  51. Olivier, M, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003; 63(20):6643-50. PMID: 14583457
  52. Le, Calvez-Kelm, F, et al. RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study. PLoS ONE. 2012; 7(12):e52374. PMID: 23300655
  53. Weischer, M, et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J. Clin. Oncol. 2008; 26(4):542-8. doi: 10.1200/JCO.2007.12.5922. PMID: 18172190
  54. Watson, P, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int. J. Cancer. 2008; 123(2):444-9. doi: 10.1002/ijc.23508. PMID: 18398828
  55. Poumpouridou, N, Kroupis, C. Hereditary breast cancer: beyond BRCA genetic analysis; PALB2 emerges. Clin. Chem. Lab. Med. 2012; 50(3):423-34. doi: 10.1515/cclm-2011-0840. PMID: 22505525
  56. Ow, GS, et al. Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures. Cell Cycle. 2014; 13(14):2262-80. doi: 10.4161/cc.29271. PMID: 24879340
  57. Giardiello, FM, et al. 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. 2014; 109(8):1159-79. doi: 10.1038/ajg.2014.186. PMID: 25070057
  58. Pelttari, LM, et al. RAD51C is a susceptibility gene for ovarian cancer. Hum. Mol. Genet. 2011; 20(16):3278-88. PMID: 21616938
  59. Hendriks, YM, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology. 2004; 127(1):17-25. PMID: 15236168
  60. Goodenberger, ML, et al. PMS2 monoallelic mutation carriers: the known unknown. Genet. Med. 2015; :None. doi: 10.1038/gim.2015.27. PMID: 25856668
  61. Ramus, SJ, et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J. Natl. Cancer Inst. 2015; 107(11):None. PMID: 26315354
  62. American Cancer Society, Lifetime Risks of Developing Various Cancers. http://www.cancer.org/cancer/cancerbasics/lifetime-probability-of-developing-or-dying-from-cancer Accessed January 2018.
  63. National Comprehensive Cancer Network®, Clinical practice guidelines in oncology. Genetic/Familial High Risk Assessment: Breast and Ovarian. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp Accessed January 2018.
  64. Ramus, SJ, et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J. Natl. Cancer Inst. 2015; 107(11):None. doi: 10.1093/jnci/djv214.
  65. National Cancer Institute, Who should consider genetic testing for cancer risk? http://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet#q4 Accessed January 2018.
  66. National Comprehensive Cancer Network®, Clinical practice guidelines in oncology. Management Guidelines for HBOC. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp Accessed September 2015.
  67. National Comprehensive Cancer Network®, Clinical practice guidelines in oncology. Breast and Ovarian Management Based on Genetic Test Results. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp. Accessed August 2018.
  68. National Comprehensive Cancer Network®, Clinical practice guidelines in oncology. Guidelines for Breast and/or Ovarian Genetic Risk Assessment. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp Accessed September 2015.
  69. National Comprehensive Cancer Network®, Clinical practice guidelines in oncology. Genetic/Familial High Risk Assessment: Colorectal. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp Accessed February 2018.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABRAXAS1 NM_139076.2
AKT1 NM_005163.2
ATM NM_000051.3
BARD1 NM_000465.3
BRCA1* NM_007294.3
BRCA2* NM_000059.3
BRIP1 NM_032043.2
CDC73 NM_024529.4
CDH1 NM_004360.3
CHEK2 NM_007194.3
DICER1 NM_177438.2
EPCAM* NM_002354.2
FANCC NM_000136.2
FANCM NM_020937.2
MLH1* NM_000249.3
MRE11 NM_005591.3
MSH2* NM_000251.2
MSH6 NM_000179.2
MUTYH NM_001128425.1
NBN NM_002485.4
NF1 NM_000267.3
PALB2 NM_024675.3
PIK3CA NM_006218.2
PMS2 NM_000535.5
POLD1 NM_002691.3
PTEN* NM_000314.4
RAD50 NM_005732.3
RAD51C NM_058216.2
RAD51D NM_002878.3
RINT1 NM_021930.4
SDHB NM_003000.2
SDHD NM_003002.3
SMARCA4 NM_001128849.1
STK11 NM_000455.4
TP53* NM_000546.5
XRCC2 NM_005431.1

BRCA1: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
BRCA2: Sequence analysis includes +/- 20 base pairs of adjacent intronic sequence.
EPCAM: Analysis is limited to deletion/duplication analysis.
MLH1: Deletion/duplication analysis covers the promoter region.
MSH2: Analysis includes the exon 1-7 inversion (Boland mutation).
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.