Jocelyn Chapman, MD Division of Gynecologic Oncology. Julie S. Mak, MS, MSc Genetic Counselor Hereditary Cancer Clinic

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1 Jocelyn Chapman, MD Division of Gynecologic Oncology Julie S. Mak, MS, MSc Genetic Counselor Hereditary Cancer Clinic

2 Genetics underlies all cancers Somatic or tumor genetics Germline or inherited genetics Personal impact of genetics in gynecologic cancer UC SF

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4 Some genes contain instructions that can prevent cancer Tumor suppressor genes, oncogenes Mutation = spelling mistake in a gene that interferes with the gene s normal instruction Current terminology is pathogenic variant there are many normal variations of genes. A pathogenic variant is associated with disease

5 Tumor mutations: Understanding the specific genes involved in each cancer can improve treatment Stanford Healthcare

6 Inherited mutations: Do not cause cancer but do increase susceptibility to cancer Understanding specific mutations can improve prevention and treatment Stanford Healthcare

7 All cancers are the result of the accumulation of somatic (tumor) mutations Accumulated during a person s lifetime Present in an isolated group of cells Tests: 500, FoundationOne, Guardant Some people have germline (inherited) mutations Inherited from a parent & present from conception Present in every cell of the body UC SF

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9 CASE STUDY Chapman JS, Asthana S, Cade L, Chang MT, Wang Z, Zaloudek C, Ueda S, Collisson EA, Taylor BS. Clinical sequencing contributes to a BRCA University of California associated cancer re diagnosis that guides an effective therapeutic course. J Natl Compr Canc Netw Jul;13(7):

10 Chapman JS, Asthana S, Cade L, Chang MT, Wang Z, Zaloudek C, Ueda S, Collisson EA, Taylor BS. Clinical sequencing contributes to a BRCA University of California associated cancer re diagnosis that guides an effective therapeutic course. J Natl Compr Canc Netw Jul;13(7):

11 Chapman JS, Asthana S, Cade L, Chang MT, Wang Z, Zaloudek C, Ueda S, Collisson EA, Taylor BS. Clinical sequencing contributes to a BRCA associated cancer re diagnosis that guides an effective therapeutic course. J Natl Compr Canc Netw Jul;13(7):

12 and a dramatic cancer regression.

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15 Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP) Available at:

16 ABL1 AKT1 AKT2 AKT3 ALK APC AR ARAF ARFRP1 ARID1A ARID2 ASXL1 ATM ATR ATRX AURKA AURKB AXL BAP1 BARD1 BCL2 BCL2L2 BCL6 BCOR BCORL1 BLM BRAF BRCA1 BRCA2 BRCA2 BRIP1 BTK CARD11 CBFB CBL CCND1 CCND2 CCND3 CCND3 CCNE1 CD79A CD79B CDC73 CDH1 CDK12 CDK4 CDK6 CDK8 CDKN1B CDKN2A CDKN2B CDKN2C CEBPA CHEK1 CHEK2 CIC CREBBP CRKL CRLF2 CSF1R CTCF CTNNA1 CTNNB1 DAXX DDR2 DNMT3A DNMT3A DOT1L EGFR EMSY EP300 EPHA3 EPHA5 EPHB1 ERBB2 ERBB3 ERBB4 ERG ESR1 EZH2 FAM123B FAM46C FANCA FANCC FANCD2 FANCE FANCF FANCG FANCL FBXW7 FGF10 FGF14 FGF19 FGF23 FGF3 FGF4 FGF6 FGFR1 FGFR2 FGFR3 FGFR4 FLT1 FLT3 FLT4 FOXL2 GATA1 GATA2 GATA3 GID4 GNA11 GNA13 GNAQ GNAS GPR124 GRIN2A GSK3B HGF HRAS IDH1 IDH2 IGF1R IKBKE IKZF1 IL7R INHBA IRF4 IRS2 JAK1 JAK2 JAK3 JUN KAT6A KDM5A KDM5C KDM6A KDR KEAP1 KIT KRAS KRAS LRP1B MAP2K1 MAP2K2 MAP2K4 MAP3K1 MCL1 MDM2 MDM4 MED12 MEF2B MEN1 MET MITF MLH1 MLL MLL2 MPL MRE11A MSH2 MSH6 MTOR MUTYH MYC MYC MYCL1 MYCN MYD88 NF1 NF2 NFKBIA NKX2 1 NOTCH1 NOTCH2 NPM1 NRAS NTRK1 NTRK2 NTRK3 NUP93 PAK3 PALB2 PAX5 PBRM1 PDGFRA PDGFRB PDK1 PIK3CA PIK3CG PIK3R1 PIK3R2 PPP2R1A PRDM1 PRKAR1A PRKDC PTCH1 PTEN PTPN11 RAD50 RAF1 RARA RB1 RET RICTOR RNF43 RPTOR RUNX1 SETD2 SF3B1 SMAD2 SMAD4 SMARCA4 SMARCB1 SMO SOCS1 SOX10 SOX2 SOX2 SPEN SPOP SRC STAG2 STAT4 STK11 SUFU TET2 TGFBR2 TNFAIP3 TNFRSF14 TP53 TP53 TSC1 TSC2 TSHR VHL WISP3 WT1 XPO1 ZNF217 ZNF703 University ofcenter California The Collisson & Taylor Labs Helen Diller Comprehensive Cancer Research

17 B Alt erat ion frequency (% of tumors) * * Gynecologic Thoracic Urogenital Head+neck Gastrointestinal Breast Hematologic Skin Sarcomas Brain Amplification Mutation Homozygous deletion Multiple alterations The Collisson & Taylor Labs Helen Diller Comprehensive Cancer Research Center

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21 What is inherited cancer risk? Genetic testing for inherited risk Caring for high-risk populations

22 75% 10-15% 75% Sporadic (average risk) 10-15% Familial (moderate risk) 5-10% Hereditary (high risk) 5-10% Ovarian cancer 20% Endometrial (uterine) cancer 5% Uterine sarcoma unknown Cervical cancer minimal inherited factors UC SF

23 (NOT SO) rare BUT have great impact Risk of cancer can be high e.g. 40% ovarian cancer risk with BRCA1 mutation Multiple primary cancers are common Opportunity for PREVENTION

24 Genetic Counseling: Risk assessment and follow-up Risk Classification Intervention Average Standard prevention and screening Family Hx Moderate ( Familial ) Personalized prevention and screening High/Genetic Genetic evaluation with personalized prevention and screening UC SF

25 Some people have a mutation in the gene Actually some people have a pathogenic variant in the gene UC SF

26 Inherited mutation: Early age at onset Multiple primaries Incomplete penetrance Dominant inheritance Stanford Healthcare

27 UC SF

28 Early age of diagnosis Family history of the same or related types of cancer eg. breast and ovarian; colon and endometrial Multiple primary cancers Rare cancers eg. Male breast, fallopian tube Ancestry eg. Ashkenazi Jewish and BRCA1 and BRCA2 Risk models exist for some major syndromes eg. BRCAPRO UC SF

29 Testing done on healthy tissue - usually blood or saliva For healthy people, as well as those with cancer An inherited mutation is not a diagnosis of cancer Information can be used for early detection, prevention, and treatment of cancer Information can affect relatives

30 There are many types of genetic tests Tests vary in quality and scope Even among tests of high quality Different tests for different needs Results can be complex

31 BRCA1 (50%) Other genes 17% BRCA2 (33%) Sporadic Hereditary Am J Hum Genet 1998; 62: The numbers are shifting quickly, as we see results from genetic testing panels! UC SF

32 Proportions of patients with primary ovarian, fallopian tube, or peritoneal cancers with germline loss-of-function mutations in BRCA1 (red); BRCA2 (blue); BARD1, BRIP1, CHEK2, MRE11, NBN, PALB2, RAD50, or RAD51C (green); MSH6 (purple); or p53 (yellow) by National Academy of Sciences Walsh T et al. PNAS 2011;108: UC SF

33 offers multi-gene tests in most cases With increasing information, increasing complexity Variants of unknown significance (VUSs) Genes linked to moderate risk Genes linked to unknown risk

34 Uninformative Tests no mutation with a strong family history variant of unknown significance Rare sequence changes where there is insufficient or conflicting information cannot be classified as pathogenic or benign There could still be increased risk of cancer in these families! Even when a mutation is found, information about that gene may be preliminary Risks may appear low, making recommendations unclear UC SF

35 Korea Mexico Dx 42 Died 82 Dx 55 d Key Dx yrs 37 Ruth Breast CA -Ovarian CA UC SF

36 breast cancer (up to 80%) Second primary (up to 50%) male breast cancer (5-10%) ovarian cancer (up to 50% BRCA1; up to 25% BRCA2) Other cancers: prostate, pancreas, melanoma, etc. ASCO

37 Colon Ca, 45 Colon Ca, 52 Endometrial Ca, Caused by mutations in mismatch repair genes: MLH1, MSH2, MSH6, PMS2, EPCAM Cancer risks: Colon, endometrial, ovarian, urinary tract, other UC SF ASCO

38 Increased screening Breast MRI, colonoscopy Risk-reducing medications Tamoxifen, Oral Contraceptives Risk-reducing surgeries Mastectomy reduces breast cancer by 90% Hysterectomy prevents endometrial cancer Salpingo-oophorectomy reduces ovarian cancer by 90%; can also reduce breast cancer risk!

39 Hereditary cancer is rare Identifying inherited risk can improve early detection, prevention, and treatment of cancer Early-onset cancer, multiple primaries, family history, and ancestry can suggest inherited risk Genetic testing with multi-gene tests provides the most information. Tests vary widely in quality and scope. Genetic counseling will help patients and providers manage complex genetic information UC SF

40 Founded in 1996 Team of genetic counselors, physicians, researchers Database of thousands of individuals with strong family histories or germline mutations Provide cancer risk assessment, genetic testing, assistance in coordinating follow-up, including support resources and involvement in clinical trials New dedicated clinic and research program for families with inherited mutations UC SF

41 Gene Reviews National Comprehensive Cancer Network (NCCN) Cancer Genetics and Prevention Program Center for BRCA Research Brca.ucsf.edu Kintalk UC SF

42 Surgeon General s Family Health History Initiative: UC SF

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