GENETICS(LL)-W/CONNECT >CUSTOM<
GENETICS(LL)-W/CONNECT >CUSTOM<
6th Edition
ISBN: 9781260571561
Author: HARTWELL
Publisher: MCG CUSTOM
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Chapter 20, Problem 23P

Families with germ-line BRCA1 or BRCA2 loss-of-function mutations usually display Hereditary Breast and Ovarian Cancer (HBOC). The accompanying diagram shows a BRCA2 pedigree.

Chapter 20, Problem 23P, Families with germ-line BRCA1 or BRCA2 loss-of-function mutations usually display Hereditary Breast

a. BRCA1 and BRCA2 are tumor-suppressor genes; cells homozygous for loss-of-function mutations in either gene can become cancerous due to a loss of DNA repair machinery. Explain why the pedigree shows a dominant inheritance pattern of HBOC.
b. Can you tell from the pedigree diagram whether or not HBOC is completely penetrant?
c. Does HBOC show varying expressivity?
d. Explain your answers to parts (b) and (c) in terms of current models for the origins of cancers.
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