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Part Two. Welcome back. Familial Cancer Genetics. Cancer Genetics. 5-10% of all cancer clearly linked to an inherited gene alteration If cancer seen at younger ages (before 50) possible that inherited genes increased susceptibility

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Part two

Part Two

Welcome back


Familial cancer genetics

Familial Cancer Genetics


Cancer genetics

Cancer Genetics

  • 5-10% of all cancer clearly linked to an inherited gene alteration

  • If cancer seen at younger ages (before 50) possible that inherited genes increased susceptibility

  • Some genetic conditions increase someone’s risk of getting several different types of cancer at young age (eg. Li-Fraumeni syndrome, MEN 1)

  • Some gene alterations lead to uncontrolled cell growth:

    • tumour suppressor genes

    • oncogenes

    • DNA repair genes


Breast cancer

Breast Cancer

  • BRCA 1 & BRCA 2 testing may be available for people at high risk, but others genes known to be involved

  • If gene alteration found, woman at up to 80% lifetime risk of developing breast cancer

  • Carry risk of other cancers; ovary (BRCA 1 = 44%, BRCA 2 = 27%), and a slightly increased risk prostate, pancreas and some other cancers

  • Dominantly inherited through families (ie. only one copy of the altered gene needed for it to have effect)


Part two

AUTOSOMAL DOMINANT INHERITANCE

Parents

Gametes

At conception

Unaffected

Affected


Part two

Hereditarygene alteration

1 Somatic mutation

Somatic mutation

Cancer

Normal Tissue


Part two

Hereditarygene alteration

Somatic mutation

2 Somatic mutations

Cancer

Cancer


What would indicate that a woman is at higher risk of developing breast ovarian cancer

What would indicate that a woman is at higher risk of developing breast/ovarian cancer?

Relative with breast cancer before the age of 40

Relative with bilateral breast cancer

Relative with male breast cancer

2+ relatives on the same side of the family affected by breast cancer (especially if affected at younger ages)

2+ relatives with ovarian cancer


Breast cancer referral

Breast Cancer Referral


Case 1

  • Low risk – manage in primary care

  • Older age of onset

  • Different sides of the family

Case 1

Breast cancer

65

70

76

46

Kay

49

51

53

55

Reassure and explain population risk. Advise on symptom awareness and to report any changes in family history


Ovarian cancer

Ovarian Cancer


Case 2

  • Refer – high risk

  • Young age onset

  • Equal transmission through men

  • Multiple tumours in one individual

  • Breast and ovarian cancer

Case 2

42

48 breast cancer

56 ovarian cancer

Breast cancer

Ovarian cancer

32

Janet


Colorectal cancer

Colorectal Cancer

Familial Adenomatous Polyposis (FAP)

Hereditary Non-Polyposis Colorectal Cancer

(HNPCC).

Other cancers associated with

HNPCC – endometrial, stomach,

ovarian

Supporting Genetics Education for Health

www.geneticseducation.nhs.uk


Bowel cancer

Bowel Cancer

HNPCC related cancers include endometrial, gastric,

ovarian, pancreatic and urothelial


Case 3

Case 3

35

died in war

68

73

60’s

77

78

73

75

43

Colorectal cancer

32

Peter

Refer – moderate risk Young age of onset (under 45)


Case 4

Case 4

Colorectal

cancer

Endometrial cancer

55

69

49

42

George

80

75

48

78

Refer – High risk

Young age of onset,

Endometrial and Bowel

Two generations, Polyps

39

Polyps

30

Martin

42


Referral for family history of cancer

Referral for family history of cancer

  • Young age at onset,

  • Pattern of similar tumours on one side of the family (or multiple primaries in one individual)

  • Use national/local guidelines e.g. NICE familial breast cancer

  • Remember ethnicity e.g. – Chinese, Indian, Ashkenazi Jewish ancestry

  • If in doubt - Contact the Clinical Genetic Service


Patient information

Patient Information

  • Detailed information of affected family members required

  • Patient will receive information regarding level of risk and options

  • Will not necessarily mean a genetic test


Part two

AUTOSOMAL DOMINANT INHERITANCE

Parents

Gametes

At conception

Unaffected

Affected


Familial hypercholesterolaemia

Familial Hypercholesterolaemia

  • If fulfil Simon Broome criteria, refer to specialist lipidologist

  • Where Genetic testing is not available, cascade testing for family members by fasting lipid profile

  • Children tested below 10 years

  • Boys have lower cholesterol during puberty


Heart uk definition using simon broome register

Heart UK Definition using Simon Broome Register

Definite Familial Hypercholesterolaemia:

PLUS

b) Tendon xanthomas in patient, or in 1st degree relative (parent, sibling, child), or in 2nd degree relative (grandparent, uncle, aunt)

OR

c) DNA-based evidence of an LDL receptor mutation or familial defective apo B-100


Heart uk definition using simon broome register1

Heart UK Definition using Simon Broome Register

Possible Familial Hypercholesterolaemia:

PLUS

  • d) Family history of myocardial infarction: below age of 50 in 2nd degree relative or below age 60 in 1st degree relative

    Or

  • e) Family history of raised cholesterols:

    • >7.5 mmol/l in adult 1st or 2nd degree relative or

    • > 6.7 mmol/l in child or sibling under 16


Part two

X-LINKED INHERITANCE WHERE THE MOTHER IS A CARRIER

Father

Mother

Parents

(Unaffected)

(Carrier)

Gametes

X

Y

X

X

At conception

Son

Daughter

Daughter

Son

(Affected)

(Carrier)


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