Myriad乳腺癌基因检测报告模板-BRCA2阳性2016

CONFIDENTIAL

*52375985*

52375985

Genetic Result - Integrated BRACAnalysis ?

BRCA2

c.xxxxxxxxxxxx Heterozygous

High Cancer Risk

This patient has Hereditary Breast and Ovarian Cancer syndrome (HBOC).

DETAILS ABOUT:BRCA2 c.xxxxxx: NM_000059.3; (aka: xxxxx)

Functional Significance:Deleterious - Abnormal Protein Production and/or Function

The heterozygous germline BRCA2 mutation c.xxxxx is predicted to result in the premature truncation of the BRCA2 protein at amino acid position xxxx (p.xxxxx).

Clinical Significance:High Cancer Risk

This mutation is associated with increased cancer risk and should be regarded as clinically significant.

Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants), and most variants do not increase an individual's risk of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most likely do not cause increased cancer risk. Present evidence does not suggest that non-clinically significant variant findings be used to modify patient medical management beyond what is indicated by the personal and family history and any other clinically significant findings.

Variant Classification: Myriad's myVision TM Variant Classification Program performs ongoing evaluations of variant classifications. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classification. When new

evidence about a variant is identified and determined to result in clinical significance and management change, that information will automatically be made available to the healthcare provider through an amended report.

Indication for Testing: It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a hereditary predisposition for cancer.

Associated Cancer Risks and Clinical Management: If a clinically significant mutation is identified, please see the management tool associated with this report for a summary of cancer risk and professional society medical management guidelines that may be

useful in developing a plan for this patient. Testing of other family members may assist in the interpretation of this patient's test result.

Analysis Description: The Technical Specifications summary (https://https://www.wendangku.net/doc/fb12623199.html,/documents-and-forms/technical-specifications/) describes the analysis, method,performance, nomenclature, and interpretive criteria of this test. Current testing

technologies are unable to definitively determine whether a variant is germline or somatic in origin, which may significantly impact risk estimates and medical management;therefore, these results should be correlated with this patient's personal and family history. The interpretation of this test may also be impacted if the patient has a hematologic malignancy or an allogeneic bone marrow transplant.

GENES ANALYZED

Unless otherwise noted sequencing and large rearrangement analyses were performed on the following genes:BRCA1, BRCA2

CONFIDENTIAL*52375985*

52375985 Genetic Result - Integrated BRACAnalysis?

Name:DOB:Accession #:Report Date: Pt Last Name, Pt First Name Jun 14, 2016

07001268-BLD

THE CLASSIFICATION AND INTERPRETATION OF ALL VARIANTS IDENTIFIED IN THIS ASSAY REFLECTS THE CURRENT STATE OF MYRIAD'S SCIENTIFIC UNDERSTANDING AT THE TIME THIS REPORT WAS ISSUED. VARIANT CLASSIFICATION AND INTERPRETATION MAY CHANGE FOR A VARIETY OF REASONS, INCLUDING BUT NOT LIMITED TO, IMPROVEMENTS TO CLASSIFICATION TECHNIQUES, AVAILABILITY OF ADDITIONAL SCIENTIFIC INFORMATION, AND OBSERVATION OF A VARIANT IN MORE PATIENTS.

Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result.

This Authorized Signature pertains to this laboratory report:Benjamin B. Roa, PhD

Diplomate ABMG

Laboratory Director

Johnathan M. Lancaster, MD, PhD

Diplomate FACOG, FACS

Chief Medical Officer

These test results should only be used in conjunction with the patient's clinical

history and any previous analysis of appropriate family members. The patient's

clinical history and test results should not be disclosed to a third party, unless

related to treatment or payment for treatment, without the patient's express

written authorization. It is strongly recommended that these results be

communicated to the patient in a setting that includes appropriate counseling.

This test was developed and its performance characteristics determined by

Myriad Genetic Laboratories. It has not been cleared or approved by the U.S.

Food and Drug Administration (FDA). The FDA has determined that clearance

or approval for laboratory-developed tests is not required.

CONFIDENTIAL

*52375985*

52375985

Management Tool - Integrated BRACAnalysis ?

GENETIC TEST RESULTS SUMMARY INFORMATION

THIS GENETIC TEST RESULT IS ASSOCIATED WITH THE FOLLOWING CANCER RISKS:

HIGH RISK:Female Breast, Ovarian, Pancreatic

ELEVATED RISK:Melanoma

MUTATION

GENE

BRCA2

c.xxxxxxxxxxxx Heterozygous

OVERVIEW

Hereditary Breast and Ovarian Cancer syndrome (HBOC):

?

This patient has been found to have a mutation in the BRCA2 gene. Individuals with mutations in BRCA2 have a condition called Hereditary Breast and Ovarian Cancer syndrome (HBOC). ?Women with HBOC have a risk for breast cancer that is greatly increased over the 12.5% lifetime risk for women in the general population of the United States. ?Women with HBOC also have high risks for ovarian, fallopian tube, and primary peritoneal cancer.

?Men with HBOC due to mutations in BRCA2 have a high risk for breast cancer and an elevated risk for prostate cancer. The increase in

prostate cancer risk is most significant at younger ages. ?Male and female patients with HBOC due to a mutation in BRCA2 also have a high risk for pancreatic cancer and an elevated risk for

melanoma. ?Although there are high cancer risks for patients with HBOC, there are interventions that have been shown to be effective at reducing many of these risks. Guidelines from the National Comprehensive Cancer Network (NCCN) for the medical management of patients with HBOC are listed below. It is recommended that patients with BRCA2 mutations and a diagnosis of HBOC be managed by a multidisciplinary team with experience in the prevention and treatment of the cancers associated with HBOC.

WHAT ARE THE PATIENT'S GENE-RELATED CANCER RISKS?

If more than one gene mutation increases a specific cancer risk (e.g., breast), only the highest cancer risk is shown. If this patient has more than one gene mutation, risks may be different, as this analysis does not account for possible interactions between gene mutations.

FEMALE BREAST

To age 5023%-28% 1.9%BRCA2

To age 7043%-84%7.3%BRCA2

12%2%BRCA2

Second primary within 5 years of first breast cancer

diagnosis

OVARIAN

To age 500.4%-4%0.2%BRCA2

To age 7016.5%-27%0.7%BRCA2

6.8%<1.0%BRCA2

Ovarian cancer within 10 years of a breast cancer

diagnosis

PANCREATIC

1%BRCA2

To age 807%, or higher if there is a family

history of pancreatic cancer.

MELANOMA

To age 80Elevated risk 1.6%BRCA2 WHAT MANAGEMENT FOR CANCER RISKS SHOULD BE CONSIDERED?

This overview of clinical management guidelines is based on this patient's genetic test results. Unless otherwise stated, medical management guidelines are limited to those issued by the National Comprehensive Cancer Network (NCCN). The reference provided should always be consulted for more details. If management for a specific cancer (e.g. breast) is available due to multiple mutations, only the most aggressive management is shown. Only guidelines for the patient's long-term care related to cancer prevention are included.

No information is provided related to treatment of a previous or existing cancer or polyps. These recommendations may require modification based on the patient's personal medical history, surgeries and other treatments. Patients with a personal history of cancer, benign tumors or pre-cancerous findings may be candidates for long term surveillance and risk reduction strategies beyond what is necessary for the treatment of their initial diagnosis. Any discussion of medical management options is for general information purposes only and does not constitute a recommendation. While genetic testing and medical society guidelines provide important and useful information, medical management decisions should be made in consultation between each patient and his or her healthcare provider.

FEMALE BREAST

Breast awareness - Women should be familiar with

18 years NA BRCA2 their breasts and promptly report changes to their

healthcare provider. Periodic, consistent breast self-

examination (BSE) may facilitate breast awareness.1

Clinical breast examination125 years Every 6 to 12 months BRCA2

Annually BRCA2 Breast MRI and/or Mammography1Age 25 for MRI (preferred) or

mammography. Age 30 for both

MRI and mammography.

Individualize to a younger age if a

relative has been diagnosed

younger than age 30.

Individualized NA BRCA2 Consider investigational screening studies within

clinical trials.1

Consider risk-reducing mastectomy.1Individualized NA BRCA2

Individualized NA BRCA2 Consider options for breast cancer risk reduction

agents (i.e. tamoxifen).1

OVARIAN

Bilateral salpingo-oophorectomy135 to 40 years, upon completion

NA BRCA2

of childbearing, or 40 to 45 for

women who have already

maximized their breast cancer

risk prevention

30 to 35 years Individualized BRCA2 Consider transvaginal ultrasound and CA-125

measurement. Consider investigational screening

studies within clinical trials.1

Individualized NA BRCA2 Consider options for ovarian cancer chemoprevention

(i.e. oral contraceptives).1

PANCREATIC

Consider available options for pancreatic cancer

Individualized NA BRCA2 screening, including the possibility of endoscopic

ultrasonography (EUS) and MRI/magnetic resonance

cholangiopancreatography (MRCP). It is recommended

that patients who are candidates for pancreatic cancer

screening be managed by a multidisciplinary team with

experience in the screening for pancreatic cancer,

preferably within research protocols.2

MELANOMA

Consider whole-body skin and eye examinations.1Individualized NA BRCA2

1.

Daly M et al. NCCN Clinical Practice Guidelines in Oncology?: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V 1.2016. Feb 18. Available at https://www.wendangku.net/doc/fb12623199.html,.

Canto MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. 2.

PMID: 23135763.

Notes for Personalized Management:

INFORMATION ON HOW CANCER RISKS AND MANAGEMENT ARE DETERMINED

The Management Tool provides cancer risk levels and management recommendations based on analysis of the genetic results (see Genetic Result). Additional details and references for cancer risks and management recommendations can be found on https://www.wendangku.net/doc/fb12623199.html,/gene-table.

? A comprehensive risk assessment may include other aspects of the patient's personal/family medical history, as well as lifestyle, environment and other factors.

?No management recommendations are provided related to treatment of a previous or existing cancer or polyps. The recommendations provided may require modification based on the patient's personal medical history, surgeries and other treatments. Patients with a personal history of cancer, benign tumors or pre-cancerous findings may be candidates for long term surveillance and risk reduction strategies beyond what is necessary for the treatment of their initial diagnosis.

?Patients who have a clinical diagnosis of a genetic cancer syndrome (e.g., Lynch syndrome) may have different management recommendations than provided. Management should be personalized based on all known clinical diagnoses.

?The Genetic Test Result Summary includes: female breast, male breast, colorectal, endometrial, gastric, ovarian, pancreatic and prostate cancers, and melanoma. In this summary a gene associated cancer risk is described as "High Risk" for a cancer type if all of the following conditions are met: the absolute risk of cancer is approximately 5% or higher, the increase in risk over the general population is approximately 3-fold or higher, and there is significant data from multiple studies supporting the cancer risk estimate. A gene is described as "Elevated Risk"

for a cancer type if there is sufficient data to support an increase in cancer risk over the general population risk, but not all criteria for "High Risk" are met.

INFORMATION FOR FAMILY MEMBERS

Family members should talk to their healthcare providers about hereditary cancer testing to help define their own risk and assist in the interpretation of this patient's genetic test result.

?This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

?Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers, and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance for carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention. More resources for family testing are available at https://www.wendangku.net/doc/fb12623199.html,. ?In rare instances, an individual may inherit mutations in both copies of the BRCA2 gene, leading to the condition Fanconi Anemia, Complementation Group D1 (FANCD1). This condition is rare and includes physical abnormalities, growth retardation, progressive bone marrow failure and a high risk for cancer. The children of this patient are at risk of inheriting FANCD1 only if the other parent is also a carrier of a BRCA2 mutation. Screening the spouse/partner of this patient for BRCA2 mutations may be appropriate.

To age 50 1.9%

23%-28%

To age 707.3%

43%-84%

Second primary within 5 years of first breast cancer diagnosis

2% 12%

To age 500.2%

0.4%-4%

To age 700.7%

16.5%-27%

Ovarian cancer within 10 years of a breast cancer diagnosis

<1.0% 6.8%

OVARIAN

FOR MALE RELATIVES

To age 70<0.1%

6.8%

MALE BREAST

To age 708.2%

20%

PROSTATE

FOR FEMALE AND MALE RELATIVES

To age 801%

7%, or higher if there is a family

history of pancreatic cancer.

PANCREATIC

To age 80 1.6%

Elevated risk

MELANOMA

Please contact Myriad Medical Services at 1-800-469-7423 X 3850 to discuss any questions regarding this result.

END OF MANAGEMENT TOOL

CONFIDENTIAL

PATIENT COPY

*52375985*

52375985

Genetic Result - Integrated BRACAnalysis ?

BRCA2

c.xxxxxxxxxxxx Heterozygous

High Cancer Risk

This patient has Hereditary Breast and Ovarian Cancer syndrome (HBOC).

DETAILS ABOUT:BRCA2 c.xxxxxx: NM_000059.3; (aka: xxxxx)

Functional Significance:Deleterious - Abnormal Protein Production and/or Function

The heterozygous germline BRCA2 mutation c.xxxxx is predicted to result in the premature truncation of the BRCA2 protein at amino acid position xxxx (p.xxxxx).

Clinical Significance:High Cancer Risk

This mutation is associated with increased cancer risk and should be regarded as clinically significant.

Details About Non-Clinically Significant Variants: All individuals carry DNA changes (i.e., variants), and most variants do not increase an individual's risk of cancer or other diseases. When identified, variants of uncertain significance (VUS) are reported. Likely benign variants (Favor Polymorphisms) and benign variants (Polymorphisms) are not reported and available data indicate that these variants most likely do not cause increased cancer risk. Present evidence does not suggest that non-clinically significant variant findings be used to modify patient medical management beyond what is indicated by the personal and family history and any other clinically significant findings.

Variant Classification: Myriad's myVision TM Variant Classification Program performs ongoing evaluations of variant classifications. In certain cases, healthcare providers may be contacted for more clinical information or to arrange family testing to aid in variant classification. When new

evidence about a variant is identified and determined to result in clinical significance and management change, that information will automatically be made available to the healthcare provider through an amended report.

Indication for Testing: It is our understanding that this individual was identified for testing due to a personal or family history suggestive of a hereditary predisposition for cancer.

Associated Cancer Risks and Clinical Management: If a clinically significant mutation is identified, please see the management tool associated with this report for a summary of cancer risk and professional society medical management guidelines that may be

useful in developing a plan for this patient. Testing of other family members may assist in the interpretation of this patient's test result.

Analysis Description: The Technical Specifications summary (https://https://www.wendangku.net/doc/fb12623199.html,/documents-and-forms/technical-specifications/) describes the analysis, method,performance, nomenclature, and interpretive criteria of this test. Current testing

technologies are unable to definitively determine whether a variant is germline or somatic in origin, which may significantly impact risk estimates and medical management;therefore, these results should be correlated with this patient's personal and family history. The interpretation of this test may also be impacted if the patient has a hematologic malignancy or an allogeneic bone marrow transplant.

GENES ANALYZED

Unless otherwise noted sequencing and large rearrangement analyses were performed on the following genes:BRCA1, BRCA2

报告基因检测

荧光素酶报告基因 原理：转录因子是一种具有特殊结构、行使调控基因表达功能的蛋白质分子，也称为反式作用因子。某些转录因子仅与其靶启动子中的特异序列结合，这些特异性的序列被称为顺式作用元件，转录因子的DNA结合域和顺式作用元件实现共价结合，从而对基因的表达起抑制或增强的作用。荧光素酶报告基因实验（luciferase assay）是检测这类转录因子和其靶启动子中的特异顺序结合的重要手段。 其原理简述如下： （1）构建一个将靶启动子的特定片段插入到荧光素酶表达序列前方的报告基因质粒，如pGL3-basic等。 （2）将要检测的转录因子表达质粒与报告基因质粒共转染293细胞或其它相关的细胞系。如果此转录因子能够激活靶启动子，则荧光素酶基因就会表达，荧光素酶的表达量与转录因子的作用强度成正比。 （3）加入特定的荧光素酶底物，荧光素酶与底物反应，产生荧光，通过检测荧光的强度可以测定荧光素酶的活性，从而判断转录因子是否能与此靶启动子片段有作用。 步骤： (1) 铺细胞于24 孔板中，{选用48孔板（如果比较难做的系统可以选用24孔板甚至12孔板，细胞量越多表达的酶相应越多），铺板密度约为30%（如果比较着急做实验，密度可以提高）。}每孔细胞数为20 万细胞左右，待细胞融汇度达到70% （适合磷酸钙转染）、85% （适合脂质体转染）时进行转染。一般选用细胞密度为50-70%时进行转染（因为转染后要让质粒表达一定的时间，一般是18-24小时，故而这个细胞密度到加药时密度会差不多到100%）。转染体系的配置：目标蛋白的质粒（pBind-），luc质粒，fermentas转染试剂，（质粒：转染试剂=1：1-3（μg：μL）这个比例根据细胞、质粒转染难易程度而定，必要时需要自己摸条件）。——此步骤与与普通的细胞转染实验的要求相同。 脂质体法 （1）在细胞密度达到80%左右，于转染前1小时用基本培养基（常用无血清培养基Opti-MEM）为细胞换液。【对转染后易死的细胞可用不含双抗但含有10%FBS的DMEM或1640培养基】（2）根据细胞培养皿的大小，按下表配制转染试剂体系。将适量欲转染的质粒DNA与适量体积的Opti-MEM混匀。同时，将适量的脂质体【采用下表中所给量的一半】也和适量的Opti-MEM混合。室温静置5分钟【时间过长会降低脂质体活性】。 （3）将（2）中两溶液转移到同一EP管中，吹打使其混匀。静置20分钟。 （4）将质粒DNA和脂质体混合液加入到细胞培养皿中，置于CO2培养箱中37℃培养（5% CO2，37 ℃）4－6小时后更换正常培养基（含双抗和10%FBS）。 脂质体法各试剂用量 DNA(ug) opti培养基（μl）

乳腺癌和肺癌基因检测项目计划书

乳腺癌和肺癌基因检测项目计划书 项目背景乳腺癌是女性最常见的癌种，占女性恶性肿瘤的 1/3，其发病率约为30/10万，即每年10万女性中有30位会患乳腺癌。男性也可患乳腺癌，但比例很低，男女比例约为1:100。遗传性乳腺癌占全部乳腺癌的10%左右，而在遗传性乳腺癌患者中，有50%左右是由于BRCA 1、BRCA2基因突变所引起，30%是由ATM、BARD 1、BRIP 1、CDH 1、CHEK 2、MSH 6、MRE11 A、MUTYH、NBN、NF 1、PALB 2、PTEN、RAD 50、RAD51 C、STK 11、TP53这16个基因突变所致。BRCA 1、BRCA2基因主要功能是参与细胞DNA修复、蛋白降解、调节基因转录、调节细胞周期等，当它们发生突变后，细胞不能进

行正常的生理活动而发生恶性增殖，最终导致乳腺癌的发生。BRCA 1、BRCA2基因突变的携带者一生患乳腺癌的几率可能高于80%。因此，对有家族史的个体（也包括男性）进行基因检测有助于乳腺癌的早发现，早干预，早治疗。 肺癌是肺部常见的恶性肿瘤，对人类健康和生命威胁最大的恶性肿瘤之一。在男性肿瘤中，肺癌发病率和死亡率均占所有恶性肿瘤的第一位，在女性肿瘤中，肺癌的发病率和死亡率屈居乳腺癌占第二位。 目前研究已发现有数个基因与肺癌结肠癌的发生密切相关，而其中部分基因的突变又与靶向药物治疗的效果密切相关。如携带EGFR基因敏感突变的肺癌患者，接受吉非替尼（易瑞沙）治疗疗效显著高于化疗药物，但这类敏感人群在欧美仅约10%，在中国也只有不到40%。又如，KRAS基因是肿瘤生长信号通路中的一个关键基因，如果结肠癌患者是KRAS野生型，接受西妥昔单抗治疗后，将近70%左右的患者会有明显获益，但如果患者携带KRAS耐药突变，则获益情况远不如传统化疗。因此，美国《NCCN指南》明确指出：患者在接受靶向药物治疗前应进行相关基因的检测，据此确定是否适合用药。因此，对潜在风险人群进行基因检测不仅有助于肺癌结肠癌的早发现早干预，对患者的靶向药物治疗也有重要的指导作用。二

乳腺癌21基因检测,告别乳腺癌从这里出发

乳腺癌21基因检测 乳腺癌21基因检测是对21个与乳腺癌细胞增殖、侵袭、Her-2、激素等相关的基因进行定量并进行复发评分，为乳腺癌治疗的选择、预后判断提供依据。此外，21基因检测技术能够对肿瘤的生物学特性提供更为详尽的信息，从而为个体病例提供更为精确的治疗决策与预后信息，使临床医师能够选择出真正能够从内分泌或化疗中获益的患者。 检测意义 “乳腺癌21基因检测”是检测恶性肿瘤组织中一组特异基因的表达，对预测预后、复发、转移乃至指导治疗提供信息，最终目的是为患者的个体化治疗提供帮助。21基因检测结果以积分的形式表示，积分用于对肿瘤可能发生的生物学行为进行预测，提供个体化的治疗效果预测和1 0年复发风险的预测。 哪些人需要做“乳腺癌21基因检测”? l或l l期、雌激素受体阳性、淋巴结转移阴性及将要采用他莫昔芬治疗的新确诊乳腺癌患者。 绝经后，淋巴结阳性、雌激素受体阳性的浸润性乳腺癌患者，也可通过21基因检测评估是否需要化疗。 应在何时进行“乳腺癌21基因检测”？ “乳腺癌21基因检测”应在患者接受手术（乳房肿瘤切除手术或乳房切除手术）之后，并在做出下一步治疗决定之前进行。 “乳腺癌21基因检测”属于一种非侵入性检测，患者无需再接受任何额外的穿刺程序，利用原来手术（乳房肿瘤切除手术、乳房切除手术或核心穿刺活组织裣查）过程中取出的组织进行检测即可。 乳腺癌21基因OncotypeDx检测的临床应用 乳腺癌21基因OncotypeDx检测能够为早期乳腺癌患者提供预测疾病复发概率的量化指标，它在判断患者对于化疗效果方面较传统方法具有明显优势。对于乳腺癌治疗，化疗是防止或者延缓患者术后肿瘤远期的复发。从临床研究中发现，被基因检测确定为高RS的患者化疗效果明显，而被确定为低RS的患者在化疗中的受益则十分微小。如果低RS乳腺癌患者，则术后采用化疗不但属于过度治疗，且会给患者带来不良反应，还会增加医疗费用。 1、国外研究者对NSABP B-20试验的651例肿瘤标本进行了检测。B-20试验是对雌激素受体阳性、淋巴结阴性的乳腺癌患者给予他莫昔芬联合化疗或他莫昔芬单纯治疗。研究表明，在低评分组，患者并未从化疗中受益；在高评分组，患者对化疗的获益程度极显著；在中等评分组，化疗仅为患者带来轻度的获益。由于B-20试验只纳入了淋巴结阴性的乳腺癌患者，因此研究者又对西南肿瘤研究组（SWOG）-8814试验的肿瘤标本进行了检测，结果证实，乳腺癌21基因OncotypeDx检测法的疗效预测价值同样存在于淋巴结阳性的乳腺癌患者。

乳腺癌干细胞与基因分型

综述=文章编号>1007-9424(2010)03-0302-04 乳腺癌干细胞与基因分型 韩明利*,吴诚义* =摘要>目的总结乳腺癌干细胞与基因分型的研究进展,并分析二者之间的相关性。方法分析近年来有关乳腺癌干细胞与基因分型研究的文献报道。结果乳腺癌干细胞与基因分型的相关性研究支持了乳腺癌的肿瘤干细胞起源学说,解释了乳腺癌基因分型的复杂性及其异质性。结论乳腺癌干细胞和基因分型的相关性研究能为从细胞分子水平研究乳腺癌的形成机理和生物学特性找到新的途径,有望为乳腺癌的诊断和治疗提供新的策略与手段。 =关键词>乳腺癌;异质性;基因分型;肿瘤干细胞 =中图分类号>R737.9=文献标识码>A Br east Cancer Stem Cells a nd Genotyping H AN M i ng2li*,WU C heng2y i*.*Depa rtment of E ndocr ine Sur ger y, The F irst Af f ilia ted H ospita l of Chongqing Medica l Univer sity,Chong qing400016,China Cor r esponding Author:WU C heng2yi,E2ma il:kitty246437@https://www.wendangku.net/doc/fb12623199.html, =Abstract>Objectiv e To summar ize t he advancement of br east cancer stem cells and genotyping and analyze the correlation between the two.Methods R elevant liter at ur es about br east cancer stem cells and genot yping, which wer e published recently were collected and r eviewed.Results Cancer stem cell origin t heory was supported by researches of corr elation between br east cancer stem cells and genotyping,which also explained the complexity of intrinsic subtypes and heterogeneity of breast cancer.Conclusions A new way can be detected to study the forma2 tion mechanism and biological character istics of breast cancer at the cellular and molecular level by r esear ches of cor2 r elation between br east cancer stem cells and genotyping,which are expected to provide new str ategies and tools for diagnosis and tr eatment of br east cancer. =Key wor ds>Breast cancer;H eterogeneity;Genotyping;Cancer stem cell 乳腺癌是一类高度异质性的肿瘤,除了在病理组织形态、分化级别以及激素受体表达方面可分为不同亚型之外,根据基因表达差异也可分为不同基因亚型;此外,肿瘤干细胞理论认为,单个肿瘤内也存在不同特性细胞的亚群,这就使得乳腺癌的个体化治疗更加复杂化[1,2]。现就乳腺癌干细胞与基因分型的研究进展作一综述。 1乳腺癌干细胞 1.1乳腺癌干细胞理论的形成与内涵 目前,众多研究支持了实体肿瘤的肿瘤干细胞学说:一小部分具有自我更新能力、能产生多种祖细胞的干细胞最终分化为肿瘤内所有的细胞类型[3]。2003年Al2H ajj等[4]最先在乳腺癌中证实了乳腺癌干细胞的存在,并且表明乳腺癌干细胞具有自我更新、无限增殖和多向分化的特性;他们在8例癌性胸水和1例原发病灶中分离出了Lin-ESA+ CD44+CD24-/low表型乳腺癌细胞,此表型细胞只需200个 =作者单位>*重庆医科大学附属第一医院内分泌外科(重庆400016) =通讯作者>吴诚义,E2mail:kitty246437@https://www.wendangku.net/doc/fb12623199.html, =作者简介>韩明利(1981年-),男,河南省商丘市人,硕士,主要从事乳腺癌基础及临床方面的研究,E2mail:hanmingli00111230@ https://www.wendangku.net/doc/fb12623199.html,。就可以在非肥胖型糖尿病/重症联合免疫缺陷(NOD/SCID)鼠体内经5~6个月形成直径约1cm大小的肿瘤,而10000个其他表型的细胞也不能或极少产生肿瘤;其产生的子代肿瘤具有与原发肿瘤相似的病理组织学特征,并有1%~5%的子代肿瘤细胞表达Lin-ESA+CD44+CD24-/low且具有同样的致瘤能力;此表型细胞只占乳腺癌细胞的2%,但却是乳腺癌的起始细胞。这说明Lin-ESA+CD44+CD24-/low表型细胞亚群在乳腺癌中起着干细胞的作用,从而证实乳腺癌中存在乳腺癌干细胞。迄今,具有CD44+/CD24-表型的乳腺癌细胞已经被公认为乳腺癌干细胞[427]。2007年Ginestier等[8]发现ALDH1+表型细胞也具有乳腺癌干细胞的特征:在577例乳腺癌组织标本中,19%~30%的肿瘤组织表达ALDH1;用ALDH1+表型细胞进行成瘤实验,只用500个ALDH1+表型细胞就能形成肿瘤,而即使用了50000个ALDH1-表型细胞也不会形成肿瘤;并发现ALDH1+ CD44+CD24-Lin-表型细胞具有最高的致瘤能力。说明ALDH1+表型细胞具有很高的致瘤能力,也被认为是乳腺癌干细胞。P atrawala等[9]在ER+乳腺癌的MCF27细胞系中分离出的侧群细胞较非侧群细胞具有更强的致瘤能力,且侧群细胞亚群可传代并能生成非侧群细胞,显示其具有自我更新和多向分化的能力,提示侧群细胞也具有乳腺癌干细胞特性,但其与乳腺癌干细胞的具体关系尚不明确。

BRCA基因检测实践

BRCA基因检测实践 复旦大学附属肿瘤医院分子病理实验室研究员山灵发表了《BRCA基因检测实践》的主 题演讲，首次分享中国人群卵巢癌组织和血液中BRCA1/2突变的比较数据。 BRCA1/2基因是一类肿瘤抑制基因，参与细胞同源重组修复（HRR）过程，2014年， 美国FDA批准了奥拉帕利可用于既往三线及以上铂类化疗的BRCA突变卵巢癌患者。 因此卵巢癌患者的BRCA突变检测，能更好的评估患者预后、优化治疗方案。针对不 同人群的BRCA突变情况，已有较多报道，但研究数据的人群都是以高加索人种为主， 更是缺少体细胞与胚系基因突变的比较。因此，针对中国人群的BRCA胚系和体细胞 突变情况的研究显得尤为迫切。 山博士首先介绍了BRCA检测的临床意义，根据国内外的指南共识，BRCA被用于高危人群的筛查、乳腺癌患者的手术方式选择、以及卵巢癌的用药选择。 山博士指出BRCA基因序列较大，整个BRCA基因的编码区突变都有可能造成BRCA基因的功能异常，而且目前的数据发现BRCA突变缺乏明确的突变热点，因此BRCA检测需要通过整个编码区的测序，通过比对目前大样本的数据库分析来确认。在下一代测序（NGS）的临床应用中，Ion Torrent平台相对操作和分析比较简单，且样本用量少报告时间短，比较适合临床样本的需求。

接下来对222例乳腺癌和169例卵巢癌在NGS上的BRCA数据进行了详细的分析，并首次发布了卵巢癌中组织样本（体细胞）和血液样本（胚系）的突变情况比较，以及使用毛细管电泳测序平台上的MLPA检测大片段缺失的结果，山教授深入浅出的对不同卵巢癌亚型中突变率进行了分析。 最后介绍了对BRCA数据的结果解读流程和参考数据库，以及建立中国人群数据的重要性和难点。

21基因Oncotype Dx对乳腺癌预后研究的进展

《中国癌症杂志 》2009年第19卷第12期 CHINA ONCOLOGY 2009 Vol.19 No.12 953 21基因Oncotype Dx对乳腺癌预后研究 的进展 ［摘要］　目前最为有效的乳腺癌治疗模式是多学科综合标准化治疗。然而长期以来缺乏有效的预后预测手段来指导患者的个体化治疗，以至于相当一部分化疗获益甚少的低风险患者也不得不接受化疗。随着基因组学的发展，已有数个基因系列的检测结果被证实可以用于乳腺癌预后的预测，进而判断测患者从化疗中的获益，避免过度治疗。21基因Oncotype Dx检测正是其中之一，其有效性及准确性已在各种临床研究中得到了证实。本文就21基因Oncotype Dx对乳腺癌预后研究的进展进行综述。 ［关键词］　乳腺癌；　21基因Oncotype Dx；　预后；　预测 中图分类号：R737.9 文献标识码：A 文章编号：1007-3639(2009)12-0953-06 Progress in the research on 21-gene Oncotype Dx in breast cancer prognosis LIAO Ning,ZHANG Xu-chao (Department of Breast Cancer, Cancer Center, Guangdong General Hospital, Guangzhou Guangdong 510080，China) Correspondence to：LIAO Ning E-mail：drliao_ning@https://www.wendangku.net/doc/fb12623199.html, ［Abstract ］ Currently the most effective treatment strategy for breast cancer is standardized multi-discipline comprehensive treatment. However, there are no effective models that can accurately predict prognosis, so that no guidance of individualized treatment has yet been set up, resulting in a proportion of patients with low risk who received chemotherapy with little benefit . With the development of genomics, several gene sets have been demonstrated to be helpful in predicting of breast cancer prognosis and grading the patients’ benefit from chemotherapy, thus avoid overtreatment. 21-gene Oncotype Dx was reported as one of them and has been demonstrated to be effective and accurate in various clinical studies. This paper summarizes researches on 21-gene Oncotype Dx in breast cancer. ［Key words ］　breast cancer; 21-gene Oncotype Dx; prognosis; prediction 通讯作者：廖宁　E-mail:drliao_ning@https://www.wendangku.net/doc/fb12623199.html, 乳腺癌是威胁女性的恶性肿瘤之一，近20年来，以手术为中心，化疗、放疗、内分泌治疗为辅助的多学科综合治疗模式?到长足的发展，使乳腺癌的复发和死亡率显著降低，但仍然缺乏有效的方法能够较为准确地预测患者的复发风险并给予相应的治疗。近几年来，随着基因组学的研究深入，已发现几个能够比临床病理学指标更能准确预测肿瘤复发的多基因标记物。针对雌激素受体阳性患者的“21基因检测”（Oncotype Dx）已经被证实比临床病理学指标更能准确预测雌激素受体阳性、腋下淋巴结阴性且降低服用他莫昔芬患者的远处转移风险［1-4］。该项检测不仅可以作为一种诊断 方法，而且还可以预测上述患者接受内分泌治疗或化疗的获益情况。本文就21基因检测的内容、研制和认证的研究及其在临床实践中的运用等方面作一综述。 1　乳腺癌21基因检测的由来 1.1　21基因检测的目的　临床和病理学的疾病分期是早期乳腺癌风险预测的基础。疾病分期对于病情程度的?述虽有限制，但却是目前最为广泛的预测手段。肿瘤科医师给早期乳腺癌患者治疗时面临的首要挑战在于决定哪些患者需要接受辅助性化疗。一直以来,治疗方案的选择是以肿瘤的临床病理特征为依?,比如淋巴结的转移以及组织学分级。但淋巴结中的微小转移，以及一些重要的肿瘤特征如雌激素受体的表达和Her-2的过表达等因素的不确定性，不但

检测报告模板

无创产前亲子鉴定遗传咨询报告 一．检测结论 检测结果支持“韩梅梅”胎儿DNA样品与“李磊”提供的DNA样品之间符合孟德尔遗传定律，即DNA样品的提供双方符合生物学亲子关系。 待测样品的累计父权指数（CPI）为5.51E+82，亲权概率为>99.99％。在本报告中，胎儿DNA样品为检测对象，男方提供的为待测样品。 二．样品信息 检案号：PPT2017070581 委托人：韩梅梅 检测对象样品：血液 待测样品类型：血液 受理日期：2017年6月29日 检测日期：2017年7月11日 本报告属于实验室科研检测报告，仅对本次送检样本负责，不作为司法鉴定用途。三．检测方法 本检测方法使用高通量测序技术，对孕妇外周血中的游离DNA进行测序和

分析，筛选出胎儿特异的SNP位点（在本检测中称为信息位点）并与待测样品的测序结果进行比对，检验两个样品是否符合孟德尔遗传定律。具体方法如下： 1.在高速离心机中分离血液，获得血浆； 2.提取血浆和待测样品中的DNA； 3.采用高通量测序和液相杂交捕获技术对样品进行测序； 4.使用超级计算平台对测序结果进行分析； 5.如果胎儿浓度达到要求，出具报告；如果胎儿浓度过低，需要重新抽取 孕妇外周血。 四．检测结果 1.待测样品SNP分型清晰，无污染，符合质控标准；

图1. 待测样品SNP分型图。蓝色和红色用于标识不同的染色体。 2.从检测对象中分析筛选出379个信息位点，符合质控标准； 3.与待测样品SNP分型结果比对后，信息位点中有1个位点不符合孟德尔遗 传定律，错配率为0.2639%； 4.所有信息位点在22条常染色体上的分布情况，绿色为符合孟德尔遗传定律 的信息位点，红色为不符合孟德尔遗传定律的信息位点；

乳腺癌患者HER2基因检测——

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万方数据

万方数据

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